EurekaMag PDF full texts Chapter 35,358

Kanzaki, A.; Nakayama, K.; Miyashita, H.; Shirata, S.; Nitta, Y.; Oubu, M.; Higashimoto, M.; Mutoh, M.; Mori, S.; Konno, S.; Ogawa, K.; Toi, M.; Takebayashi, Y. 2003: Mutation analysis of copper-transporting P-type adenosine triphosphatase in human solid carcinomas. Anticancer Research 23(2C): 1913-1916, March-April

Akashi, T.; Kikuchi, A. 2003: Mutation analysis of gamma-tubulin uniquely conserved in budding yeasts. Cell Structure and Function 28(4): 349

Pinto, D.; Louwaars, S.; Volkers, L.; De Haan, G.H.; Janssen, G.A.M.; Boezeman, E.H.; Van Erp, M.G.; Bader, A.; Trenite, D.G.A. Kasteleijn Nolst; Lindhout, D.; Koeleman, B.P.C. 2004: Mutation analysis of gene EFHC1 in JME-related IGE families of Dutch origin. Epilepsia 45(Suppl 3): 122-123

Blair, E.; Oliviera, M.; Etisham, J.; Redwood, C.; Ostman Smith, I.; Watkins, H. 2002: Mutation analysis of genes encoding subunits of AMP-activated protein kinase in inherited cardiomyopathies. Journal of Medical Genetics 39(Suppl 1): S69

Binder, E.B.; Lichtner, P.; Uhr, M.; Bettecken, T.; Strom, T.M.; Meitinger, T.; Modell, S.; Holsboer, F. 2002: Mutation analysis of genes regulating the hypothalamo-pituitary adrenal axis in patients with depressive syndrome. American Journal of Human Genetics 71(4 Suppl): 468

Terzioglu, M.; Ozen, H.; Emre, S.; Kocak, N.; Ciliv, G.; Saltik, I.; Yuce, A.; Gurakan, F. 2001: Mutation analysis of glucose-6-phosphatase gene in glycogen storage disease type 1a Turkish patients. Journal of Inherited Metabolic Disease 24(Suppl 1): 107

Song, L.; Meng, Y.T.; Zhang, B.R.; Wang, O. 2000: Mutation analysis of glucose-6-phosphate dehydrogenase gene in patients identified with G-6-PD deficiency in North China. Pediatric Research 47(4 Part 2): 245A

Kim, H.; Kim, C.; Hwang, H.; Song, S.; Lee, J.; Kim, J.; Jin, D. 2001: Mutation analysis of iduronate-2-sulfatase gene in 20 Korean families with mucopolysaccharidosis type II. American Journal of Human Genetics 69(4 Suppl): 483

Bona, A.; Csikos, M.; Sajo, R.; Horvath, A.; Karpati, S. 2004: Mutation analysis of keratin 5 and keratin 14 genes in patients with epidermolysis bullosa simplex. Journal of Investigative Dermatology 123(2)

Marcao, Ana; Pinto, E.; Amaral, O.M.; Sa Miranda, M.C.; Marcao, A.M. 1999: Mutation analysis of metachromatic leukodystrophy in Portugal. European Journal of Human Genetics 7(Suppl 1): 122-123

Seike, M.; Gemma, A.; Hosoya, Y.; Kudoh, S. 2001: Mutation analysis of mitotic checkpoint genes in lung cancer. Proceedings of the American Association for Cancer Research Annual Meeting 42: 399

Smith, S.D.; Kelley, P.M.; Askew, J. 1999: Mutation analysis of myelin oligodendrocyte glycoprotein in dyslexic siblings. American Journal of Human Genetics 65(4): A468

Browning, C.A.; Jenkins, G.J.S.; Lyons, B.P.; Parry, J.M. 2001: Mutation analysis of p53 and ras genes in liver tumours from European flounder and dab. Environmental and Molecular Mutagenesis 37(Suppl 32): 24

Browning, C.A.; Jenkins, G.J.S.; Lyons, B.P.; Feist, S.W.; Parry, J.M. 2002: Mutation analysis of p53 and ras genes in liver tumours from the European flounder and dab. Marine Environmental Research 54(3-5): 528-529

Ren, Z.P.; Mcniff, J.; Ho, V.; Gasparro, F.P. 1999: Mutation analysis of p53 gene in skin squamous cell carcinomas from PUVA treated psoriasis patients PUVA and UVB type mutations. Environmental and Molecular Mutagenesis 33(Suppl 33): 52

Ren, Z.P.; Mcniff, J.; Ho, V.; Gasparro, F.P. 1999: Mutation analysis of p53 gene in skin squamous cell-carcinomas from PUVA treated psoriasis patients. Proceedings of the American Association for Cancer Research Annual Meeting 40: 599

Samilchuk, E.; Al Suleiman, I.; Al Awadi, S. 2001: Mutation analysis of phenylketonutia in Kuwait. European Journal of Human Genetics 9(Suppl 1): P1555

Mizoguchi, M.; Louis, D.N.; Nutt, C.L. 2003: Mutation analysis of phosphoinositide 3-kinase regulatory subunits in human glioblastoma. Proceedings of the American Association for Cancer Research Annual Meeting 44: 789-790

Mei, C.; Zhang, S.; Zhang, D.; Dai, B.; Tang, B.; Sun, T.; Zhao, H.; Zhou, Y.; Li, L.; Wu, Y.; Wang, W.; Shen, X.; Song, J. 2003: Mutation analysis of polycystic kidney disease genes in ADPKD Han. Journal of the American Society of Nephrology 14(Abstracts Issue): 874A

Chen, C.H.; Tsai, M.T. 1999: Mutation analysis of prion gene in Chinese schizophrenic patients from Taiwan. American Journal of Human Genetics 65(4): A288

Fassina, A.; Peloso, N.; Ganz, F.; Menegazzo, M.; Zoletto, M.; Pegoraro, E. 2003: Mutation analysis of proliferation genes in ovarian tumours by DHPLC. Virchows Archiv 443(3): 320

Kohda, T.; Mukamoto, M.; Sugimoto, N.; Kozaki, S. 2002: Mutation analysis of receptor binding activity of Clostridiun botulinum type B neurotoxin fragment by use of site-directed mutagenesis. Naunyn-Schmiedeberg's Archives of Pharmacology 365(Suppl 2): R26

Aarons, E.J.; Koup, R.A. 1999: Mutation analysis of receptors and relationship of receptor usage to disease. Hebert, C A Contemorary Immunology; Chemokines in Disease: Biology and clinical research 281-294

Jung, S.C.; Lee, K.S.; Lee, Y.J.; Park, J.A.; Lee, J.S. 2002: Mutation analysis of sex determined genes in Korean patients with sex-reversal disorders. American Journal of Human Genetics 71(4 Suppl): 547

Chen, Y.H.; Chen, C.H. 1999: Mutation analysis of spinocerebellar ataxia type 1 gene in Taiwanese schizophrenic patients. American Journal of Human Genetics 65(4): A267

Hofmann, W.; Frege, R.; Classen, E.; Scherneck, S. 2001: Mutation analysis of the 5 untranslated region of BRCA1 gene. European Journal of Human Genetics 9(Suppl 1): P0075

Yu, W.M.; Liu, T.T.; Chang, M.; Zhang, Z.X.; Liang, H.Y.; Hisao, K.J. 2003: Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in northern Chinese with tetrahydrobiopterin deficiency. Journal of Inherited Metabolic Disease 26(Suppl 2): 36

Manitto, M.P.; Martina, E.; Brancato, R.; Dean, M.; Allikmets, R.; Fumagalli, A.; Soriani, N.; Ferrari, M.; Cremonesi, L. 2000: Mutation analysis of the ABCR gene in Italian patients with Stargardt disease. IOVS Investigative Ophthalmology and Visual Science 41(4): S143

Rossetti, S.; Chauveau, D.; Walker, D.; Torres, V.E.; Harris, P.C. 2001: Mutation analysis of the ADPKD genes by DHPLC. Journal of the American Society of Nephrology 12(Program and Abstract Issue): 545A

Rossetti, Sandro; Coto, Eliecer; Kubly, Vickie; El Youssef, Mounif; Milliner, Dawn; Torres, Vicente; Harris, Peter 2002: Mutation analysis of the ARPKD gene. Journal of the American Society of Nephrology 13(Program and Abstracts Issue): 105A

Miki, Y.; Katagiri, T.; Nakamura, Y. 1999: Mutation analysis of the BRCA1 and BRCA2 genes in Japanese breast cancer families. Utsunomiya, J, Mulvihill, J J, Weber, W Familial cancer and prevention: Molecular epidemiology: A new strategy toward cancer control 405-407

Van Der Luijt, R.; Jansen, R.P.M.; Van Zon, P.H.A.; Oostra, M.; Warlam Rodenhuis, C.C.; Ausems, M.G.E.M. 2000: Mutation analysis of the BRCA1 and BRCA2 genes in a hospital-based series of patients with risk factors for hereditary breast cancer. European Journal of Human Genetics 8(Suppl 1): 104-105

Struewing, J.P.; Rutter, J.L.; Davila, M.R.; Smith, A.M.; Greene, M.H.; Tucker, M.A. 2001: Mutation analysis of the BRCA1-interacting genes ZBRK1 and BRIP1 among BRCA1/2-negative probands from breast/ovarian cancer families. American Journal of Human Genetics 69(4 Suppl): 393

Korte, A.; Ockenga, J.; Doerk, T.; Teich, N.; Ballmann, M.; Keim, V.; Manns, M.P.; Stuhrmann, M. 1999: Mutation analysis of the CFTR and CT genes in patients with idiopathic pancreatitis. American Journal of Human Genetics 65(4): A305

Kupka, S.; Toth, T.; Aberle, S.; Blin, N.; Sziklai, I.; Zenner, H.; Pfister, M. 2001: Mutation analysis of the CX26 gene in sporadic cases with moderate to profound deafness. European Journal of Human Genetics 9(Suppl 1): P1429

Kupka, S.; Toth, T.; Aberle, S.; Blin, N.; Sziklai, I.; Zenner, H.P.; Pfister, M. 2001: Mutation analysis of the CX26 gene in sporadic cases with moderate to profound hearing impairment. American Journal of Human Genetics 69(4 Suppl): 599

Garchon, H.; Colomb, E.; Kaplan, J. 1999: Mutation analysis of the CYP1B1 gene in French patients with primitive congenital glaucoma. IOVS Investigative Ophthalmology and Visual Science 40(4): S511

Cipollini, G.; Bevilacqua, G.; Caligo, M.A. 2000: Mutation analysis of the CtIP gene in BRCA1 negative Italian early onset sporadic breast cancers An alternative mechanism involved in the carcinogenesis. Tumori 86(4 Suppl 1): 28-29

Tsai, F.; Shi, Y.; Wu, J.; Tsai, C. 2002: Mutation analysis of the EXT genes in Taiwanese patients with hereditary multiple exostoses. European Journal of Human Genetics 10(Suppl 1): 236

Tischkowitz, M.; Morgan, N.V.; Hodgson, S.V.; Eddy, C.; Ball, S.; Langabeer, S.; Vorechovsky, I.; Grimwade, D.; Mathew, C. 2001: Mutation analysis of the Fanconi Anaemia group A, C, E, F and G genes in sporadic Acute Myeloid Leukaemia. Journal of Medical Genetics 38(Suppl 1): S55

Antoniadi, T.; Pampanos, A.; Petersen, M. 1999: Mutation analysis of the GJB2 gene by DGGE in Greek patients with sensorineural deafness. American Journal of Human Genetics 65(4): A282

Zhang, F.; Biegel, J.A. 2002: Mutation analysis of the HCCS1gene in medulloblastomas. American Journal of Human Genetics 71(4 Suppl): 250

Grasso, Maurizia; Ansaldi, S.; Pilotto, A.; Magani, F.; Porcu, E.; Guarnone, R.; Salvaneschi, L.; Carbone, S.; D'agostino, F.; De Giuli, A.; Bodini, U.; Barosi, G.; Arbustini, E. 2000: Mutation analysis of the HFE gene in Italian population. European Journal of Human Genetics 8(Suppl 1): 145

Ocran, K.; Buettner, C.A.; Genschel, J.; Steiner, M.; Schneider, M.L.; Geri, H.; Schuff Werner, P.; Kerner, W.; Lochs, H.; Schmidt, H.H. 2001: Mutation analysis of the HFE gene in hereditary hemochromatosis. Gastroenterology 120(5 Suppl 1): A 306

Vos, Y.J.; Verlind, E.; Kooistra, A.; Stolte Dijkstra, I.; Kerstjens Frederikse, W.S.; Buys, C.H.C.M.; Hofstra, R.M.W. 2003: Mutation analysis of the L1CAM gene in 200 patients. American Journal of Human Genetics 73(5): 580

Haas, O.A.; Weinhaeusel, A.; Schlegl, R. 2000: Mutation analysis of the MECP2 and SH2D1A genes in male patients with juvenile myelomonocytic leukemia. Leukemia 14(5): 963

Carella, M.; Cattin, R.; Giometto, B.; Tavolato, B.; Giovannucci Uzielli, M.L.; Lievore, C.; Marin, A.; Gasparini, P.; Nicolao, P. 2001: Mutation analysis of the MECP2 gene in Italian Rett patients using Denaturing High Performance Liquid Chromatography. European Journal of Human Genetics 9(Suppl 1): P1086

D'esposito, M. 2001: Mutation analysis of the MECP2 gene in Rett syndrome females from UK and Italy. European Journal of Human Genetics 9(Suppl 1): P1447

Conforti, F.L.; Mazzei, R.; Fiumara, A.; Magariello, A.; Patitucci, A.; Gabriele, A.L.; Barone, G.; Nistico, R.; Mangone, L.; Muglia, M.; Pavone, L. 2001: Mutation analysis of the MECP2 gene in Southern Italy. American Journal of Human Genetics 69(4 Suppl): 620

Conforti, F.L.; Mazzei, R.; Magariello, A.; Patitucci, A.; Gabriele, A.L.; Muglia, M.; Quattrone, A.; Fiumara, A.; Barone, R.; Pavone, L.; Nisticò, R.; Mangone, L. 2003: Mutation analysis of the MECP2 gene in patients with Rett syndrome. American Journal of Medical Genetics. Part a 117a (2): 184-187

Messiaen, L.M.; Callens, T.; Mortier, G.; Speleman, F.; Carton, D.; Craen, M.; Leroy, J.; Abramowicz, M.; Hayez, F.; Van Regemorter, N.; Bonduelle, M.; De Paepe, A. 1999: Mutation analysis of the NF1 gene in 62 patients using an optimized protein truncation test , heteroduplex analysis and karyotyping allows to identify 93% of mutations. American Journal of Human Genetics 65(4): A480

Raca, G.; Waggoner, D.J.; Kamimura, J.; Matsumoto, N.; Schaefer, G.B.; Welch, K.O.; Martin, C.L.; Das, S. 2003: Mutation analysis of the NSD1 gene Genetic testing for Sotos syndrome. American Journal of Human Genetics 73(5): 582

Kohashi, A.; Fukuma, G.; Ishii, A.; Saito, R.; Honda, K.; Takano, Y.; Mitsudome, A.; Hirose, S. 2003: Mutation analysis of the Na+ channel and GABAA receptor genes in individuals with frequent febrile seizures or febrile seizures plus. Journal of Pharmacological Sciences 91(Suppl I): 235P

Varon, R.; Schoch, C.; Reis, A.; Hiddeman, W.; Sperling, K.; Schnittger, S. 2001: Mutation analysis of the Nijmegen Breakage Syndrome gene in acute myeloid leukemia with complex karyotypes. European Journal of Human Genetics 9(Suppl 1): P0113

Campbell, I.; Choong, D.; Thomas, N. 2001: Mutation analysis of the PITS/HELG/RAY1 gene on 7q311-Q312 in ovarian, breast, and colon cancer. Proceedings of the American Association for Cancer Research Annual Meeting 42: 532

Bussaglia, E.; Catasus, L.I.; Matias Guiu, X.; Prat, J. 1999: Mutation analysis of the PTEN gene in endometrial carcinomas. Virchows Archiv 435(3): 291

Pellicioli, M.; Komminoth, P.; Heitz, P.U.; Caduff, R. 2000: Mutation analysis of the PTEN gene in ovarian carcinomas. Pathology Research and Practice 196(6): 407

Naus, N.C.; Zuidervaart, W.; Rayman, N.; Slater, R.; van Drunen, E.; Ksander, B.; Luyten, G.P.; Klein, A. 2000: Mutation analysis of the PTEN gene in uveal melanoma cell lines. International Journal of Cancer 87(1): 151-153

Van Hul, W.; Van Wezenbeeck, L.; Speleman, F.; Vanhoenacker, F.; Morales Piga, A.; Ralston, S.; Anderson, D.; Hughes, A.; Wuyts, W. 2000: Mutation analysis of the RANK gene in sporadic and familial cases of Pagets disease of bone and osteosarcomas. European Journal of Human Genetics 8(Suppl 1): 156

Ali, M.; Markandaya, M.; Girimaji, S.C.; Shukla, A.K.; Sacchidanand, S.; Kumar, A. 2003: Mutation analysis of the TSC2 gene in 23 TSC families from India. American Journal of Human Genetics 73(5): 547

Aldave, A.J.; Yellore, V.; Udar, N.; Small, K. 2003: Mutation analysis of the VSX1 gene in patients with posterior polymorphous corneal dystrophy. American Journal of Human Genetics 73(5): 289

Cameron, J.M.; Levandovskiy, V.; Seyda, A.; Mackay, N.; Robinson, B.H. 2001: Mutation analysis of the X-linked pyruvate dehydrogenase E1alpha subunit gene. Mitochondrion 1(1): 97-98

Gault, J.M.; Logel, J.; Drebing, C.; Berger, R.; Hopkins, J.; Olincy, A.; Sullivan, B.; Short, M.; Walton, K.; Robinson, M.; Maslak, M.; Meriwether, J.; Baldermann, L.; Jacobs, S.; Freedman, R.; Leonard, S. 1999: Mutation analysis of the alpha7 nicotinic acetylcholine receptor gene and its partial duplication in schizophrenia patients. American Journal of Human Genetics 65(4): A271

Akimoto, A.; Kuroiwa, S.; Kikuchi, T.; Yoshimura, N. 2000: Mutation analysis of the bestrophin gene in wet type age-related macular degeneration. IOVS Investigative Ophthalmology and Visual Science 41(4): S198

Lagarde, A.E.; Baumann, E.; Guindi, M.M.; Stern, H.S. 2003: Mutation analysis of the beta-catenin - APC pathway and of microsatellite instability in familial and sporadic colorectal tumors. Proceedings of the American Association for Cancer Research Annual Meeting 44: 462

Fan, B.J.; Yam, G.H.F.; Cheng, A.; Leung, T.S.; Lam, D.S.C.; Pang, C.P. 2000: Mutation analysis of the betaigb3 gene in patients with corneal dystrophy. IOVS Investigative Ophthalmology and Visual Science 41(4): S267

Vieira, P.P.; Alween, A.; Marques, C.; Pereira, T.; Wirth, D.F.; Zalis, M.G. 1999: Mutation analysis of the cg2 gene in Plasmodium falciparum isolates from the Brazilian Amazon region. American Journal of Tropical Medicine and Hygiene 61(3 Suppl): 292

Waddle, K.; Yau, S.C.; Hatton, Z.; Renwick, P.; Abbs, S. 2000: Mutation analysis of the dystrophin gene by multiplex fluorescent heteroduplex analysis. European Journal of Human Genetics 8(Suppl 1): 128

Curran, J.A.; Ananth, U.; Smith, P.; Saifi, G.M.; Lupski, J.R.; Seltzer, W.K. 2002: Mutation analysis of the early growth response 2 gene in a cohort of 5,000 patients referred with neuropathy. American Journal of Human Genetics 71(4 Suppl): 385

Rossetti, S.; Strmecki, L.; Gamble, V.; Sneddon, V.; Burton, S.; Winearls, C.; Harris, P.C. 1999: Mutation analysis of the entire PKD1 gene. Journal of the American Society of Nephrology 10(Program and Abstr. Issue): 425A

Smeets, H.; Van Den Bosch, B.; Nijland, J.; Scholte, H.; Dedie, C.; Van Den Bogaard, R.; De Visser, M.; De Coo, I. 2000: Mutation analysis of the entire mitochondrial DNA using Denaturing High Performance Liquid Chromatography. American Journal of Human Genetics 67(4 Suppl 2): 249

Ozelius, L.; Liu, L.; Kock, N.; Aguiar, P.D.C.rvalho; Mueller, B.; Raymond, D.; Harris, J.; Doheny, D.; Frucht, S.; Ford, B.; Lynch, T.; Deleon, D.; Garrels, J.; Schwinger, E.; Brin, M.; Kurlan, R.; Lang, A.; Fahn, S.; Saunders 2002: Mutation analysis of the epsilon-sarcoglycan gene in ten families with myoclonus-dystonia. Neurology 58(7 Suppl 3): A392

Onaga, Y.; Ido, A.; Moriuchi, A.; Uto, H.; Hori, T.; Hirono, S.; Hayashi, K.; Tsubouchi, H. 2001: Mutation analysis of the ferrochelatase gene from a Japanese patient with erythropoietic protoporphyria with fatal liver failure. Journal of Hepatology 34(Suppl 1): 224

Batista, M.C.; Kohek, M.B.; Frazzatto, E.S.; Fragoso, M.C.; Mendonça, B.B.; Latronico, A.C. 2000: Mutation analysis of the follicle-stimulating hormone receptor gene in girls with gonadotropin-independent precocious puberty resulting from autonomous cystic ovaries. Fertility and Sterility 73(2): 280-283

Dettling, M.; Opgen Rhein, C.; Sander, T.; Weber, M.; Steinlein, O.K. 2003: Mutation analysis of the gene encoding the ryanodine receptor gene isoform 3 in recurrent neuroleptic malignant syndrome. Pharmacopsychiatry 36(5): 220

Keller, G.; Vogelsang, H.; Neutzling, A.; Ott, K.; Mueller, J.; Hoefler, H. 2001: Mutation analysis of the hMSH6 gene with respect to genetic susceptibility for gastric cancer. Journal of Cancer Research and Clinical Oncology 127(Suppl 1): S20

Phornphutkul, C.; Introne, W.; D'souza, M.; Anderson, P.; Huizing, M.; Anikster, Y.; Bernadini, I.; Gahl, W. 2002: Mutation analysis of the human homogentisate 1,2 dioxygenase gene in American-based alkaptonuria patients. Pediatric Research 51(4 Part 2): 227A

Li, D.; Gonzalez, O.; Quinones, M.A.; Zoghbi, W.A.; Hill, R.; Bachinski, L.L.; Roberts, R. 1999: Mutation analysis of the human muscle LIM protein in patients of familial dilated cardiomyopathy. American Journal of Human Genetics 65(4): A475

Marozzi, A.; Porta, C.; Vegetti, W.; Crosignani, P.; Tibiletti, M.; Ginelli, E.; Dalpra, L. 2002: Mutation analysis of the inhibin alpha gene in an Italian survey of women affected by ovarian failure. European Journal of Human Genetics 10(Suppl 1): 116

Delpech, M.; Cuisset, L.; Drenth, J.P.H.; Van Der Velde Visser, S.D.; Grateau, G.; Van Der Meer, J.W.M. 1999: Mutation analysis of the mevalonate kinase gene in patients with Hyper-IgD and periodic fever syndrome Identification of 3 new mutations. American Journal of Human Genetics 65(4): A234

Hamada, K.; Koyama, T.; Shimizu, K.; Kawate, S.; Yokota, J.; Ohwada, S.; Morishita, Y. 2000: Mutation analysis of the p51/p63 gene in human hepatocellular carcinoma. Gastroenterology 118(4 Suppl 2 Pt 2): AASLD A144

Rooker, S.; Hardy, C.; Fullwood, P.; Toftgard, R.; Kogerman, P.; Farndon, P.A.; Richards, F.M. 1999: Mutation analysis of the patched promoter region and alternative 5exons in naevoid basal cell carcinoma syndrome. Journal of Medical Genetics 36(Suppl 1): S98

Wang, N.; Chang, J.G.; Lee, H.H.; Su, T.S.; Wang, J.C.; Perng, L.I.; Chang, C.P.; Tsai, C.H.; Chang, J.G. 1999: Mutation analysis of the putative tumor suppression gene PTEN/MMAC1 in cervical cancer. European Journal of Human Genetics 7(Suppl 1): 93

Kikkawa, S.; Tatsuro, Y.; Toshio, T. 2000: Mutation analysis of the reelin gene in Shaking Rat Kawasaki , a mutant rat with a reeler-phenotype. Neuroscience Research Suppl (24): S129

Svenson, I.K.; Ashley Koch, A.E.; Gaskell, P.C.; Riney, T.J.; Warner, C.; Farrell, C.D.; Boustany, R.M.N.; Haines, J.L.; Nance, M.A.; Pericak Vance, M.A.; Marchuk, D.A. 2000: Mutation analysis of the spastin gene in hereditary spastic paraplegia type 4 Evidence of aberrant transcript splicing caused by mutations in noncanonical splice site sequences. American Journal of Human Genetics 67(4 Suppl 2): 375

Tsai, F.; Wu, J.; Shu, S.; Yang, C.; Tsai, C. 2001: Mutation analysis of thyroid peroxidase gene in Taiwanese patients with total iodide organification defect. European Journal of Human Genetics 9(Suppl 1): P1559

Wu, J.; Yang, C.F.; Tsai, F.J. 2000: Mutation analysis of thyroid peroxidase gene in Taiwanese patients with total iodide organification defects Identification of five novel mutations. American Journal of Human Genetics 67(4 Suppl 2): 283

Kawate, S.; Ohwada, S.; Kunihiro, H.; Koyama, T.; Sakamoto, I.; Yoshinari, D.; Kasahara, M.; Tomizawa, N.; Kawashima, Y.; Takeyoshi, I.; Morishita, Y. 2000: Mutation analysis of transforming growth factor beta type I receptor, type II receptor, Smad2, Smad4, Smad6 and Smad7 in hepatocellular carcinoma. Gastroenterology 118(4 Suppl 2 Pt 2): AASLD A145

Kawate, S.; Ohwada, S.; Takeyoshi, I.; Kawashima, Y.; Ogawa, T.; Iwazaki, S.; Nakasone, Y.; Koyama, T.; Sunose, Y.; Mogi, A.; Shitara, Y.; Takenoshita, S. 1999: Mutation analysis of transforming growth factor beta type II receptor, Smad2, Smad4, Smad6 and Smad7 in hepatocellular carcinoma. Gastroenterology 116(4 Part 2): A434-A435

Levin, T.R.; Zhao, W.; Habel, L.; Morse, J.; Berger, B.M.; Shuber, A.P.; Iwamoto, M.; Ahnen, D. 2002: Mutation analysis of tumors found after a negative screening flexible sigmoidoscopy. Gastroenterology 122(4 Suppl 1): A-478

Tokarz, D.; Thomas, D.; Rainier, S.R.; Fink, J.K. 2001: Mutation analysis of two candidate genes in the paroxysmal dystonic choreoathetosis locus on chromosome 2q. American Journal of Human Genetics 69(4 Suppl): 629

Watts, G.D.J.; Keller, M.P.; IIsmaa, T.P.; Chance, P.F. 1999: Mutation analysis of two candidate genes within the hereditary neuralgic amyotrophy locus on chromosome 17q25. American Journal of Human Genetics 65(4): A498

Tsai, F.J.; Wu, J.Y.; Lin, S.P.; Chang, J.G.; Lee, C.C.; Tsai, C.H. 2000: Mutation analysis of type 2 Gaucher disease in Taiwan Chinese and identification of two novel mutations. American Journal of Human Genetics 67(4 Suppl 2): 296

Sieber, H.; Sobeck, A.; Schindler, D. 2000: Mutation analysis on 19 ataxia telangiectasia patients between 17 and 37 years of age. European Journal of Human Genetics 8(Suppl 1): 149

Hong, K.M.; Hahn, S.H.; Paik, M.K. 1999: Mutation analysis on Korean patients with citrullinemia. American Journal of Human Genetics 65(4): A238

Hong, K.M.; Kim, Y.S.; Woo, Y.J.; Jung, W.Y.; Shin, C.H.; Choi, Y.B.; Paik, M.K. 2001: Mutation analysis on Korean patients with tuberous sclerosis with the method of whole TSC1 and TSC2 cDNA sequencing. American Journal of Human Genetics 69(4 Suppl): 441

Gut, I.G.; Berlin, K.; Lechner, D.; Lehrach, H. 2003: Mutation analysis using mass spectrometry. Official Gazette of the United States Patent and Trademark Office Patents 1266(1)

El Shanti, H.E.; Al Khateeb, M.; Tayeh, M.; Abu Rubaiha, Z.; Pelet, A.; Munnich, A.; Lyonnet, S.; Majeed, H.A. 2000: Mutation analysis, genotype - phenotype correlation and carrier frequency of FMF in the Jordanian population. American Journal of Human Genetics 67(4 Suppl 2): 398

Stenmark Askmalm, M.; Carstensen, J.; Nordenskjoeld, B.; Olsson, B.; Stal, O.; Rutqvist, L.; Skoog, L. 1999: Mutation and accumulation of p53 related results of adjuvant therapy of breast cancer. Breast Cancer Research and Treatment 57(1): 60

Murtazina, R.; Fliegel, L. 1999: Mutation and analysis of polar residues of a transmembrane segment of the Na/H exchanger. FASEB Journal 13(7): A1393

Afifi, A.; Olpin, S.E.; Dalton, A.; Leonard, J.V.; Land, J.; Muntoni, F.; Lee, P.J. 2001: Mutation and biochemical analysis in carnitine palmitoyl transferase type II deficiency suggests complex genotype/phenotype interactions. Journal of Medical Genetics 38(Suppl 1): S69

Lerner Ellis, J.P.; Dobson, C.M.; Wai, T.; Watkins, D.; Tirone, J.C.; Dor, C.; Lepage, P.; Gravel, R.A.; Rosenblatt, D.S. 2003: Mutation and biochemical analysis of patients belonging to the cblA complementation class of vitamin B12-dependent methylmalonic aciduria. American Journal of Human Genetics 73(5): 459

Devery, S.; Walsh, D.; Kenny, P.; Tomkins, P.T. 2001: Mutation and clastogen screening strategies. Biochemical Society Transactions 29(5): A114

Schutte, B.C.; Watanabe, Y.; Bjork, B.C.; Howard, E.L.; Hoper, S.A.; Malik, M.I.; Fang, M.M.; Hemerson, P.I.; Dixon, M.J.; Murray, J.C. 2001: Mutation and deletion analysis of the Van der Woude syndrome locus at chromosome 1q32-q41. American Journal of Human Genetics 69(4 Suppl): 627

Pendleton, L.C.; Flam, B.R.; Solomonson, L.P.; Eichler, D.C. 2002: Mutation and deletion analysis of the diverse 5UTRs of endothelial argininosuccinate synthase mRNA. FASEB Journal 16(5): A911

Li, J.; Xiong, W.; Luo, S.; Hong, W. 2003: Mutation and expression analysis of PTEN gene in patients with multiple myeloma. Blood 102(11): 362b

Ozdag, H.; Batley, S.J.; Arends, M.J.; Ponder, B.A.J.; Kouzarides, T.; Caldas, C. 2003: Mutation and expression analysis of histone deacetylases, histone methyltransferases and histone acetyltransferases in epithelial cancers. Proceedings of the American Association for Cancer Research Annual Meeting 44: 15

Koyama, T.; Hamada, K.; Shimizu, K.; Yokota, J.; Ohwada, S.; Morishita, Y. 2000: Mutation and expression of the p51/p63 gene in human colorectal carcinoma. Gastroenterology 118(4 Suppl 2 Pt 2): AGA A1394

Hattori, N.; Mizuno, Y. 2003: Mutation and function analyses in parkin. Journal of Neurochemistry 87(Suppl 1): 6

Milner, J. 2000: Mutation and function of TP53. Brain Pathology 10(4): 504

Gonzalez Duarte, R.; Paloma, E.; Martinez Mir, A.; Coco, R.; Vilageliu, L.; Balcells, S. 2002: Mutation and haplotype analysis of ABCA4 in mixed Spanish families and implication of this gene in a pattern dystrophy phenotype. European Journal of Human Genetics 10(Suppl 1): 237

Hughes, D.; Dörk, T.; Stuhrmann, M.; Graham, C. 2001: Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland. Journal of Medical Genetics 38(2): 136-139

Das, S.; Kretzschmar, E.I.; Gruber, P.; Akslen, L.A.; Salvesen, H.B. 2001: Mutation and methylation analysis of the PTEN gene in a population-based series of endometrial carcinoma patients. American Journal of Human Genetics 69(4 Suppl): 247

Onaga, Y.kiko; Ido, Akio; Uto, Hirofumi; Onaga, Masaaki; Tahara, Yoshihiro; Moriuchi, Akihiro; Hasuike, Satoru; Nagata, Yoshiko; Miyata, Yoshifumi; Kato, Jyunya; Hori, Takeshi; Kuroki, Kazuo; Hayashi, Katsuhiro; Tsubouti, Hirohito 2002: Mutation and methylation analysis of the ferrochelatase gene from Japanese patient with erythropoietic protoporphyria with fatal liver failure. Hepatology 36(4 Part 2): 337A

Argenta, P.A.; Benjamin, I.; Bell, K.; King, S.; Gopez, E.; Rubin, S.C. 1999: Mutation and overexpression of the p53 tumor suppressor gene in stage I uterine sarcoma. Gynecologic Oncology 72(3): 526

Gomez Garre, P.; Sanz, Y.; De Cordoba, S. Rodriguez; Serratosa, J.M. 1999: Mutation and polymorphism analysis in the human EPM2 gene in Lafora disease patients. American Journal of Human Genetics 65(4): A298

Kucinskas, V.; Cimbalistiene, L.; Ambrasiene, D.; Steponaviciute, D.; Kasperaviciute, D. 2000: Mutation and polymorphism spectrum of the rhodopsin and peripherin/RDS genes of autosomal dominant retinitis pigmentosa in Lithuanian patients. European Journal of Human Genetics 8(Suppl 1): 124

Khanim, F.; Hardy, C.; Torres, R.; Scott Brown, M.; Collier, D.; Kirk, J.; Polymeropoulos, M.; Latif, F.; Barrett, T.; Sellar, A.; Poulton, J. 1999: Mutation and preliminary genotype/phenotype analysis of the WFS1 gene. Journal of Medical Genetics 36(Suppl 1): S29

Nakatomi, K.; Oka, M.; Shiozawa, K.; Kawabata, S.; Tsurutani, J.; Nakamura, Y.; Soda, H.; Kohno, S. 2002: Mutation and quantitative analysis of breast cancer resistance protein gene in lung cancer cells and tumor tissues. Proceedings of the American Association for Cancer Research Annual Meeting 43: 778

Sung, S.; Mcdowell, J.V.; Marconi, R.T. 2000: Mutation and recombination in the UHB flanked ospE related genes of the Lyme disease spirochetes results in the development of new antigenic variants during infection. Abstracts of the General Meeting of the American Society for Microbiology 100: 273

Mcdowell, J.V.; Sung, S.Y.; Marconi, R.T. 2000: Mutation and recombination in the UHB flanked ospF related genes of the Lyme disease spirochetes result in the development of new antigenic variants during infection. Abstracts of the General Meeting of the American Society for Microbiology 100: 273-274

Bielas, J.H.; Heddle, J.A. 2000: Mutation and repair in quiescent and proliferating mammalian cells. Environmental and Molecular Mutagenesis 35(Suppl 31): 12

Loh, E.; Matulef, K.I.; Zagotta, W.N. 2000: Mutation and rescue of cyclic nucleotide-gated channels. Journal of Investigative Medicine 48(1): 77A

Wayne, T.; Chenevix Trench, G.; Jenkins, M.; Bachrich, T.; Muhr, D.; Davis, R.; Albert, N.; Oefner, P.; Thorstenson, Y. 2003: Mutation and segregation analysis of ATM alleles in 192 Australian breast cancer families. American Journal of Human Genetics 73(5): 249

Napierala, D.; Garcia Rojas, X.; Mendoza, R.; Zheng, Q.; Zhou, G.; Munivez, E.; Chen, Y.; Lee, B. 2003: Mutation and single nucleotide polymorphisms in RUNX2 and CBFb genes in patients with cleidocranial dysplasia. American Journal of Human Genetics 73(5): 350

Takahashi, H.; Fukutome, K.; Watanabe, M.; Furusato, M.; Sudo, A.; Yatani, R.; Suzuki, H.; Akakura, K.; Ito, H.; Maekawa, S.; Ikawa, S.; Ushigome, S. 1999: Mutation and transcription analyses of p51 gene and correlation with p73 and p53 expression in prostatic carcinoma. Proceedings of the American Association for Cancer Research Annual Meeting 40: 277

Wang, G.; Humayun, M.Z.; Taylor, D.E. 1999: Mutation as an origin of genetic variability in Helicobacter pylori. Trends in Microbiology 7(12): 488-493

Crespi, C.L.; Thilly, W.G. 1999: Mutation assays involving blood cells that metabolize toxic substances. Official Gazette of the United States Patent and Trademark Office Patents 1225(2)

Bolante, R.L.; Shao, C.S.; Tischfield, J.A.; Stambrook, P.J. 1999: Mutation at aprt in ES cells. Proceedings of the American Association for Cancer Research Annual Meeting 40: 699

Joseph, A.Y.; Menon, U.R.; Rasool, T.J. 2000: Mutation at exon 39 of myosin 15 is rare or absent among people with profound sensorineural deafness in Kerala. Current Science 78(5): 553-554

Yang, Y.h Shyong 2000: Mutation at noncysteine positions eliminates the oxidation/reduction effect on the activity of phenol sulfotransferase. Abstracts of Papers American Chemical Society 219(1-2): BIOL 54

Lakshmanan, V.L.; Alakpa, G.E.; Muhle, R.A.; Sidhu, A.B.S.; Horrocks, P.; Fidock, D.A. 2003: Mutation at position 76 of PfCRT is key to both chloroquine resistance and verapamil reversibility in Plasmodium falciparum. American Journal of Tropical Medicine and Hygiene 69(3 Suppl): 373-374

Wszolek, Z.K.; Tsuboi, Y.; Baba, Y.; Baker, M.; Uitti, R.J.; Hutton, M. 2003: Mutation carriers versus noncarriers in a cohort of at-risk individuals in PPND family. Annals of Neurology 54(Suppl 7): S58

Honsberger, A.; Delozier Blanchet, C.; Morris, M. 2002: Mutation characterization in patients with type I neurofibromatosis Towards a routine diagnostic test. European Journal of Human Genetics 10(Suppl 1): 96

Blumenfeld, O.O. 2002: Mutation databases and other online sites as a resource for transfusion medicine: history and attributes. Transfusion Medicine Reviews 16(2): 103-114

Heutink, P.; Hillebrand, M.; Willemsen, R.; Hoogeveen, A.; Rizzu, P. 2000: Mutation dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of FTDP-17 patients. American Journal of Human Genetics 67(4 Suppl 2): 373

Dupret, D.; Goossens, M.; Chassignol, M.; Nguyen, T.T. 1999: Mutation detecting method using photobridging-stabilized double-stranded DNA denaturing gradient electrophoresis. Official Gazette of the United States Patent and Trademark Office Patents 1219(2): 1516

Cotton, Richard, G.H. 2002: Mutation detection 2001 Novel technologies, developments and applications for analysis of the human genome. Human Mutation. : 313-314

Walston, J. 2002: Mutation detection and association studies in experimental protocols Focus on ADRB3. International Journal of Obesity 26(Suppl 1): S166

Gunning, K.; Brugada, R.; Hong, K.; Oliva, A.; Chansky, K.; Joe, L.; Doan, Q. 2002: Mutation detection and candidate gene resequencing using the ABI Prism 3100-Avant Genetic Analyzer. American Journal of Human Genetics 71(4 Suppl): 392

Farhud, D.D.; Derakhshandeh, P.; Najmabadi, H.; Zakernia, M.; Haghshenas, M.; Kheradmand, S.; Attariani, A. 2001: Mutation detection and prenatal diagnosis in Iranian beta-Thalassemia traits. European Journal of Human Genetics 9(Suppl 1): P0638

Kulm, M.; Jaakson, K.; Tarrikas, S.; Hutchinson, A.; Allikmets, R.L.; Metspalu, A. 2002: Mutation detection assay for ABCR gene, based on Arrayed Primer Extension technology. European Journal of Human Genetics 10(Suppl 1): 293

Cabras, A.D.; Serra, S.; Coni, P.P.; Demelia, L.; Faa, G.; Hoefler, H.; Weirich, G. 2002: Mutation detection by DHPLC in compound hereditary disease A case report. Pathology Research and Practice 198(3): 186

Betz, B.; Ruhl, D.; Du, M.; Goecke, T.; Nestle Kraemling, C.; Niederacher, D. 2002: Mutation detection by DHPLC in familial and sporadic breast cancer. Proceedings of the American Association for Cancer Research Annual Meeting 43: 993

Fujii, K.; Matsubara, Y.; Akanuma, J.; Takahashi, K.; Kure, S.; Suzuki, Y.; Imaizumi, M.; Iinuma, K.; Sakatsume, O.; Rinaldo, P.; Narisawa, K. 2000: Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency. Human Mutation 15(2): 189-196

Caskey, C.T.; Gibbs, R.A.L. 2000: Mutation detection by competitive oligonucleotide priming. Official Gazette of the United States Patent and Trademark Office Patents 1230(3)

Andersen, P.S.; Jespersgaard, C.; Vuust, J.; Christiansen, M.; Larsen, L.A. 2002: Mutation detection by high throughput Single Strand Conformation Polymorphism using automated capillary array electrophoresis Validation of sensitivity. European Journal of Human Genetics 10(Suppl 1): 293

Moutereau, S.; Johnson, M.D.; Sakazume, T.; Rappaport, E.; Santacroce, R.; Graves, D.; Su, H.J.; Delgrosso, K.; Mckenzie, S.; Dong, P.; Surrey, S.; Fortina, P. 2000: Mutation detection by single nucleotide extension. European Journal of Human Genetics 8(Suppl 1): 129

Sistermans, E.A.; De Wijs, I.J.; Hoefsloot, L.H. 1999: Mutation detection for Congenital Adrenal Hyperplasia Analysis of 117 Dutch patients and comparison of existing methods for mutation screening in the CYP21 gene. American Journal of Human Genetics 65(4): A408

Pfendner, E.G.; Nakano, A.; Nielsen, K.; Pulkkinen, L.; Uitto, J. 1999: Mutation detection for Epidermolysis Bullosa in a global population. American Journal of Human Genetics 65(4): A407

Jones, J.G.; Seltzer, W.K. 2000: Mutation detection frequencies and allele size distributions for spinocerebellar and Friedreichs Ataxia A cumulative history of ataxia testing in a clinical reference laboratory. Neurology 54(7 Supp 3): A357

Pals, G.; Pindolia, K.; Worsham, M.J. 1999: Mutation detection in BRCA1 using real time PCR and melting curve analyses. American Journal of Human Genetics 65(4): A314

Kotaska, K.; Boday, A.; Mat'oska, V.; Prusa, R. 2000: Mutation detection in CYP21B gene determining virilized and non-classical forms of steroid 21-hydroxylase deficiency. Journal of Endocrinology 164(Suppl ): P292

Butler, S.; Fagan, E.; Cheng, Y.C.; Payne, S.J. 2000: Mutation detection in Canavan disease. Journal of Medical Genetics 37(Suppl 1): S78

Pfendner, E.; Nakano, A.; Nielsen, K.; Pulkkinen, L.; Uitto, J. 2000: Mutation detection in Epidermolysis Bullosa in a global population by the DebRA molecular diagnostics laboratory at Jefferson. Journal of Investigative Dermatology 114(4): 868

Martin, A.; Beske, O.E.ich 1999: Mutation detection in Exon-5 of the p53 tumor suppressor gene using rapid fluorescent SSCP analysis. American Biotechnology Laboratory 17(11): 11

Williams, M.; Tyfield, L.A.; Guldberg, P.; Morris, G.A. 2001: Mutation detection in HMSN/HNPP patients Five years experience. Journal of Medical Genetics 38(Suppl 1): S63

Favis, R.; Barany, F. 2000: Mutation detection in K-ras, BRCA1, BRCA2, and p53 using PCR/LDR and a universal DNA microarray. Annals of the new York Academy of Sciences 906: 39-43

Dawson, K.G.; Sebald, E.; Graham, J.M.Jr; Krakow, D. 2002: Mutation detection in NOGGIN in individuals with multiple synostosis syndrome. American Journal of Human Genetics 71(4 Suppl): 255

Butler, R.; Mountford, R. 1999: Mutation detection in X linked Adrenoleukodystrophy. Journal of Medical Genetics 36(Suppl 1): S93

Fortina, P. 1999: Mutation detection in clinical laboratory settings using micro-array technology. Clinical Chemistry and Laboratory Medicine 37(SPEC Suppl ): S45

Waseem, N.H.; Bagnall, R.; Green, P.M.; Giannelli, F. 2002: Mutation detection in factor VIIi cDNA from lymphocytes of hemophilia a patients by solid phase fluorescent chemical cleavage of mismatch. Methods in Molecular Biology 187: 109-123

Bories, D.; Jodar, M.; Dapremont, V.; Debert, C.; Feroul, V.; Tulliez, M.; Perot, C.; Van Den Akker, J.; Maury, S.; Pautas, C.; Kuentz, M. 2003: Mutation detection in imatinib mesylate treated CML patients and clonal evolution. Blood 102(11): 414a

Dunger, S.; Neumann, S.; Zell, R.; Birch-Hirschfeld, E.; Stelzner, A.; Paschke, R.; Kinne, R.W.; Sickinger, S. 2001: Mutation detection in mosaic situations: RNA mismatch assay and denaturing gradient gel electrophoresis are more sensitive than conventional cycle sequencing. Analytical Biochemistry 294(1): 89-93

Mcmahon, R.; Dalton, A.; Olpin, S.; Bishop, N. 2001: Mutation detection in osteogenesis imperfecta patients. Journal of Medical Genetics 38(Suppl 1): S67

Hughes, E.; Lazarou, L.P.; Morgan, D.E.; Thomas, N.S.T.; Clarke, A.J.; Meredith, A.L.; Ravine, D. 1999: Mutation detection in patients with X-linked ectodermal dysplasia. Journal of Medical Genetics 36(Suppl 1): S94

Peters, D.; Ariyurek, Y.; Breuning, M.H. 2000: Mutation detection in the Polycystic Kidney Disease 1-gene. European Journal of Human Genetics 8(Suppl 1): 154-155

Gjerde, D.T.; Taylor, P.D.; Haefele, R.M. 2001: Mutation detection method. Official Gazette of the United States Patent and Trademark Office Patents 1250(2)

Lavasani, S.M.; Bazazzadegan, N.; Tabasi, A.; Elahi, E.; Houshmand, M. 2000: Mutation detection of LHON in Iranian families. American Journal of Human Genetics 67(4 Suppl 2): 346

Tabatabai, N.N.; Mirzajani, F.; Karizi, S.Z.; Ghandili, S.; Falahian, M.; Jalali, J.; Nakhaie, M.; Houshmand, M. 2002: Mutation detection of galactose-1 phosphate uridyltransferase gene in Iranian Galactosemia patients. European Journal of Human Genetics 10(Suppl 1): 212

Sacara, V.C. 2003: Mutation detection of some neuromuscular diseases in Moldova. American Journal of Human Genetics 73(5): 551

Kay, A.; Ellis, I.; Ellis, A.; Mountford, R. 2001: Mutation detection protocol for STK11 mutations in patients with Peutz-Jeghers syndrome. Journal of Medical Genetics 38(Suppl 1): S57

Williams, A.J.; Bishop, M.W.; Au, K.S.; Northrup, H. 2002: Mutation detection rates and organ system involvement in tuberous sclerosis complex. American Journal of Human Genetics 71(4 Suppl): 345

Almeida, M.; Fidalgo, P.; Wijnen, J.; Fodde, R.; Burn, J.; Curtis, A.; West, S.P. 1999: Mutation detection strategy in hereditary non-polyposis colon cancer families. Journal of Medical Genetics 36(Suppl 1): S94

Bakker, Egbert; Vossen, Rolf; Dieltjes, Patrick; De Knijff, Peter; Den Dunnen, Johan 2001: Mutation detection techniques. Journal of Medical Genetics 38(Suppl 1): S12

Kuklin, A.I.; Haefele, R.; Taylor, P.D.; Gjerde, D.T.; Hecker, K.; Munson, K. 1999: Mutation detection using DNA chromatography. American Journal of Human Genetics 65(4): A218

Mortona, O.; Nannenga, B.; Tenclay, S.; Gentile, G.J.; Gentile, J.G. 2001: Mutation frequency and sequence specificity in parasite-infected Big Blue transgenic mice. Environmental and Molecular Mutagenesis 37(Suppl 32): 55

Kelly, D.; Greene, C.; Gallagher, P.; Taggart, C.; Meachery, G.; O'neill, S.; Mcelvaney, N.G. 2003: Mutation functional analysis of the human IL-18 promoter in sarcoidosis. European Cytokine Network 14(Suppl 3): 39

Zatkova, A.; Polakova, H.; Micutkova, L.; Zvarik, M.; Bosak, V.; Kadasi, L.; Ferakova, E. 1999: Mutation heterogeneity in Slovak Alkaptonuria patients. European Journal of Human Genetics 7(Suppl 1): 127

Chen, W.N.; Oon, C.J.; Lim, G.K. 2001: Mutation hot spot in HLA class I-restricted T cell epitope on hepatitis B virus surface antigen in chronic carriers and patients with hepatocellular carcinoma. Journal of Gastroenterology and Hepatology 16(4): A9

Pfeifer, G.P.; Tang, M.; Denissenko, M.F. 2000: Mutation hotspots and DNA methylation. Current Topics in Microbiology and Immunology 249: 1-19

Ren, Z.; Li, A.; Shastry, B.S.; Padma, T.; Ayyagari, R.; Scott, M.H.; Kaiser Kupfer, M.I.; Hejtmancik, J.F. 1999: Mutation identified in crystallin gene in a family with zonular pulverulent cataract. American Journal of Human Genetics 65(4): A487

Tutt, A.N.; Bertwistle, D.; Valentine, J.; Gabriel, A.; Swift, S.; Ross, G.M.; Griffin, C.; Thacker, J.; Ashworth, A. 2001: Mutation in BRCA2 reduces use of error-free DNA repair by sister chromatid recombination and stimulates error-prone DNA repair by homology directed single-strand annealing. Breast Cancer Research and Treatment 69(3): 255

Agerholm Larsen, B.; Nordestgaard, B.G.; Steffensen, R.; Jensen, G.; Tybjaerg Hansen, A. 1999: Mutation in CETP associated with ischemic heart disease despite raised HDL levels. European Journal of Human Genetics 7(Suppl 1): 139

Jeanpierre, M.; Zhang, Y.; Forner, J.; Urtizberea, J.A.; Cann, H.; Kaplan, J.C.; Qishi, F. 1999: Mutation in Europe, polymorphism in China. American Journal of Human Genetics 65(4): A256

Tabares, P.A.; Evgrafov, O.V.; Durner, M.; Zhang, F.; Pal, D.; Greenberg, D.A. 2002: Mutation in GABA receptor gamma 2 gene is not a frequent cause of idiopathic generalized epilepsies. American Journal of Human Genetics 71(4 Suppl): 473

Tang, J.; Stern Nezer, S.; Liu, P.; Matyakhina, L.; Luban, N.; Kaler, S.G. 2003: Mutation in GPIbbeta impairs assembly of the platelet von Willebrand factor receptor and causes Bernard-Soulier syndrome. American Journal of Human Genetics 73(5): 558

Jeong, J.Y.; Su, W.W.; Hoffman, P.S.; Berg, D.E. 1999: Mutation in Helicobacter pylori resulting in metronidazole resistance decreases its fitness. Abstracts of the General Meeting of the American Society for Microbiology 99: 244

Martinez, D.I.arduya, O.; Kaloshian, I. 2000: Mutation in Rme1 abolishes root-knot nematode resistance conferred by the tomato Mi-1 gene. Plant Biology (Rockville) : 9

Reed, B.Y.; Gitomer, W.L.; Heller, H.J.; Lemke, M.; Hsu, M.; Padalino, P.K.; Pak, C.Y.C. 2000: Mutation in a new gene may be associated with bone loss in absorptive hypercalciuria. Journal of Bone and Mineral Research 15(Suppl 1): S360

Bendahhou, S.; Ptacek, L.J. 1999: Mutation in an S5 segment of the human skeletal muscle Na channel causes hyperkalaemic periodic paralysis. Biophysical Journal 76(1 Part 2): A125

Chikuda, H.; Hoshi, K.; Shimoaka, T.; Akune, T.; Kawano, H.; Kawano, K.; Nakamura, K.; Chung, U.; Komeda, K.; Kawaguchi, H. 2002: Mutation in cGMP-dependent protein kinase 2 causes dwarfism in a novel rat mutant, MRI, through uncoupling of proliferation and differentiation of chondrocytes. Journal of Bone and Mineral Research 17(Suppl 1): S142

Miller, A.D.; Tyagi, S.C. 2000: Mutation in collagen gene induces cardiomyopathy in transgenic mice. Circulation 102(18): 2; 292

Castora, F.J.; Hamblet, N.S.; Conyers, B. 2000: Mutation in cytochrome c oxidase subunit III in Alzheimers brains. American Journal of Human Genetics 67(4 Suppl 2): 338

Tran, S.B.; Wagner, L.E.II.G.ngrich, K.J. 1999: Mutation in domain III permeation loop of rat skeletal muscle MU1 Na+ channel alters the nature of open channel blockade. Anesthesiology 91(3A): A802

Desnuelle, C.J.; Bernard, R.; Pellissier, J.F.; Paquis Flucklinger, V.; Levy, N. 2003: Mutation in exon 4 of the MTMR2 gene encoding the myotubularin-related protein 2 in a kindred presenting with severe autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy plus bulbar palsy. Neurology 60(5 Suppl 1): A276

Futenma, A.; Yamada, H.; Sakuma, M.; Nishikawa, K.; Miura, N.; Aoki, T.; Yang, C.L.; Kitagawa, W.; Tanaka, H. 2002: Mutation in extracellular superoxide dismutase and prognosis of dialysis patients. Nephrology Dialysis Transplantation 17(Abstracts Suppl 1): 277

Curtis, A.; Fey, C.; Morris, C.M.; Ince, P.G.; Bindoff, L.A.; Jackson, M.J.; Coulthard, A.; Curtis, A.; Burn, J. 2001: Mutation in ferritin light chain causes dominant adult onset basal ganglia disease. Journal of Medical Genetics 38(Suppl 1): S28

Misra, P.; Datta, S.K.; Chakrabarty, D. 2004: Mutation in flower colour and shape of Chrysanthemum morifolium induced by gamma-radiation. Biologia Plantarum 47(1): 153-156, 2003-

Kim, J.; Kim, S.; Jang, H.; Kang, Y.; Lee, B. 2003: Mutation in gyrA, gyrB, parC and parE genes of quinolone resistant Salmonella spp isolated in Korea. FEMS Congress of European Microbiologists Abstract Book 1: 246

Sarangarajan, R.; Zhao, Y.; Boissy, R.E. 2000: Mutation in human tyrosinase related protein-1 is associated with abnormal melanosome structure. Journal of Investigative Dermatology 114(4): 818

Ng, J.C.; Qi, L.; Wang, J.P.; Shahin, M.; Prakash, A.S.; Moore, M.R. 2000: Mutation in mice induced by chronic arsenic exposure. Toxicology Letters (Shannon) 116(Suppl 1): 41-42, September 1st

Molinari, F.; Rio, M.; Munnich, A.; Colleaux, L. 2002: Mutation in neurotrypsin is responsible for autosomal recessive non-specific mental retardation. European Journal of Human Genetics 10(Suppl 1): 64

Matsuda, J.; Kido, M.; Tominaga, K.; Kuroda, Y.; Suzuki, K. 2003: Mutation in saposin D domain of sphingolipid activator protein gene causes defects in the urinary system but no ceramide accumulation in the mouse. Journal of Inherited Metabolic Disease 26(Suppl 2): 162

Kobielak, A.; Kobielak, K.; Trzeciak, W.H. 1999: Mutation in the 3NCS might results decreased stability of mRNA coding for human homeodomain protein MSX1. European Journal of Human Genetics 7(Suppl 1): 104

Martinetti, M.; Asti, M.; Badulli, C.; Iannone, A.M.; Perotti, C.; Viarengo, G.; Buzzetti, D.; Cireneo, C.; Salvaneschi, L. 2001: Mutation in the 5UTR region of the HSP70-1 gene appears to influence the response to extracorporeal photochemotherapy. European Journal of Immunogenetics 28(2): 235

Itabashi, T.; Wada, Y.; Tamai, M. 2003: Mutation in the CRX gene. Rinsho Ganka 57(9): 1420-1423

Powell, C.M.; Meira, L.B.; Friedberg, E.C. 2000: Mutation in the CSB gene in a patient with Cerebro-Oculo-Facio-Skeletal syndrome. Genetics in Medicine 2(1): 85

Klein, Christine; Brin, Mitchell F.; Kramer, Patricia; Esteves, Miguel Sena; De Leon, Deborah; Doheny, Dana; Bressman, Susan; Fahn, Stanley; Breakefield, Xandra O.; Ozelius, Laurie J. 1999: Mutation in the D2 dopamine receptor associated with myoclonus-dystonia in a large family of British-German origin. Neurology 52(6 Suppl 2): A376

Wakizaka, A.; Kuroki, Y.; Sakai, T.; Nomura, A.; Matsuo, H.; Koh, S.; Yoshie, R.; Gondoh, H.; Tsuchiya, K. 2002: Mutation in the DNA binding domain occurred in the p53 gene in mouse cell lines detected by the direct sequencing. International Journal of Cancer Suppl (13): 334

Tilgen, N.; Halliger Keller, B.; Kress, W. 2001: Mutation in the FOXC2 gene causing lymphedema distichiasis in a German family. European Journal of Human Genetics 9(Suppl 1): P1439

Kan, S.H.; Elanko, N.; Twigg, S.R.F.; Cornejo Roldan, L.R.; Muenke, M.; Wilkie, A.O.M. 2001: Mutation in the IgII domain of FGFR2 causes the eponymous form of Pfeiffer syndrome. American Journal of Human Genetics 69(4 Suppl): 614

Seada, P.M.P.; Pinho, T.; Pollman, C.; Sequeiros, J.; Tavares, P.; Maciel, P. 2002: Mutation in the PAX9 gene and absence of mutations in MSX1 gene in Portuguese families with hypodontia. American Journal of Human Genetics 71(4 Suppl): 365

Hofstra, R.M.W.; Burzynski, G.; Nolte, I.; Osinga, J.; Ceccherini, I.; Twigt, B.; Brooks, A.; Verheij, J.; Plaza Menacho, I.; Buys, C.H.C.M. 2003: Mutation in the RET genomic sequence between the transcription start site and exon 2 as a major contributor to the development of Hirschsprung disease. American Journal of Human Genetics 73(5): 195

Sessoms Sikes, J.S.; Machu, T.K.; Lovinger, D.M. 2001: Mutation in the TM2 domain of the 5-HT3 receptor alters both the kinetic properties of the ion channel and sensitivity to trichloroethanol. Alcoholism Clinical and Experimental Research 25(5 Suppl A): 57A

Sessoms Sikes, J.S.; Yu, Y.; Machu, T.K.; Lovinger, D.M. 1999: Mutation in the TM2 domain of the 5HT3 receptor alters both kinetic properties of the ion channel and sensitivity to trichloroethanol. Society for Neuroscience Abstracts 25(1-2): 1327

Macedo, G.; Lopes, S.; Ribeiro, P.M.; Araujo, F.; Carneiro, F.; Ribeir, T. 2001: Mutation in the YMDD motif of the HBV DNA polymerase gene induced by Lamivudine. Hepatology 34(4 Pt 2): 627A

Leonard, S.; Wang, S.; Frank, M.; Berger, R.; Logel, J. 2003: Mutation in the alpha7 nicotinic receptor gene promoter modulates hippocampal transcriptional profiles in schizophrenic patients and controls. American Journal of Medical Genetics 122B(1): 4

Schott, Jean Jacques; Mohler, Peter J.; Gramolini, Anthony O.; Haurogne, Karine; Kyndt, Florence; Escande, Denis; Bennett, Vann; Le Marec, Herve 2002: Mutation in the ankyrin-B gene causes long QT syndrome and sinus node dysfunction. Circulation 106(19): II308

Garg, V.; Kathiriya, I.S.; Barnes, R.; Schluterman, M.K.; Rothrock, C.; King, I.N.; Butler, C.; Eapen, R.S.; Hobbs, H.H.; Cohen, J.C.; Srivastava, D. 2003: Mutation in the cardiac transcription factor, GATA4, results in decreased DNA binding affinity in patients with non-syndromic cardiac septal defects. Pediatric Research 53(4 Part 2): 33A

Liu, J.; Ren, X.; Yin, H.; Wang, Y.; Xia, R.; Wang, Y.; Gong, Z. 2010: Mutation in the catalytic subunit of DNA polymerase alpha influences transcriptional gene silencing and homologous recombination in Arabidopsis. Plant Journal: for Cell and Molecular Biology 61(1): 36-45

Ozcelik, H.; Nedelcu, R.; Chan, V.W.; Shi, X.H.; Murphy, J.; Rosen, B.; Andrulis, I.L. 1999: Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript. Human Mutation 14(6): 540-541

Schwan, W.R.; Langhorne, M.H.; Bigelow, A.; Folger, K.R. 1999: Mutation in the copper exporting gene copA affects in vivo survival of Pseudomonas aeruginosa. Abstracts of the General Meeting of the American Society for Microbiology 99: 214

Görbe, E.; Nagy, B.; Váradi, V.; Kiss, E.; Máttyus, I.; Rigó, J.; Papp, Z. 1999: Mutation in the factor V gene associated with inferior vena cava thrombosis in newborns. Clinical Genetics 55(1): 65-66

Willig, T.N.; Tchernia, G. 1999: Mutation in the gene encoding ribosomal protein S19 involved in Diamond-Blackfan anaemia. M-S (Medecine Sciences) 15(3): 435

Schollen, E.; Matthijs, G.; Legius, E.; Fryns, J. 2002: Mutation in the gene for protein tyrosine phosphatase SHP-2 in a large family with Noonan/cardio-facio-cutaneous syndrome. European Journal of Human Genetics 10(Suppl 1): 238

Gueorguiev, M.; Korbonits, M.; O'grady, E.; Lecoeur, C.; Grossman, A.B.; Froguel, P. 2002: Mutation in the ghrelin gene associated with increase in body weight and reduction of insulin secretion in tall, obese children. Diabetologia 45(Suppl 2): A 176

Valnot, I.; Von Kleist Retzow, J.C.; Barrientos, A.; Gorbatyuk, M.; Rustin, P.; Tzagoloff, A.; Munnich, A.; Rotig, A. 2000: Mutation in the heme A Farnesyltransferase gene causes cytochrome c oxidase deficiency. European Journal of Human Genetics 8(Suppl 1): 38

Beeson, D.; Brownlow, S.; Croxen, R.; Nichols, P.; Weih, M.; Vincent, A. 2000: Mutation in the human muscle AChRdelta-subunit promoter in congenital myasthenic syndrome. Journal of Neurology Neurosurgery and Psychiatry 69(3): 416

Kleesiek, K.; Schmidt, M.; Goetting, C.; Lange, S.; Mueller Berghaus, G.; Brinkmann, T.; Prohaska, W. 1999: Mutation in the human tissue factor pathway inhibitor gene encoding TFPI is statistically associated with a higher risk for venous thrombosis. Clinical Chemistry and Laboratory Medicine 37(SPEC Suppl ): S20

Das, S.K.; Gautam, U.S.; Sandhu, K.V.; Bandyopadhyay, S.; Chakrabartty, P.K.; Singh, A. 2010: Mutation in the lysA gene impairs the symbiotic properties of Mesorhizobium ciceri. Archives of Microbiology 192(1): 69-77

Mattu, R.K.; Needham, E.W.; Trevelyan, J.; Richter, D.J.; Adiseshiah, M.A.; Lencioni, M.; Gieowarsingh, S.; Betteridge, D.J.hn 2002: Mutation in the promoter region of the hepatic lipase gene correlates with dyslipidemia in type 2 diabetes. Journal of the American College of Cardiology 39(5 Suppl A): 226A

Li, Y.H.; Chen, J.H.; Wu, H.L.; Shi, G.Y.; Chao, T.H.; Tsai, W.C.; Tsai, L.M.; Guo, H.R.; Wu, W.S.; Chen, Z.C. 1999: Mutation in the promoter region of thrombomodulin gene is an independent risk factor of coronary artery disease. Journal of the American College of Cardiology 33(2 Suppl A): 318A

Wada, Y.ko; Tamai, Makoto 2003: Mutation in the rhodopsin gene. Rinsho Ganka 57(7): 1170-1172

Fowkes, R.C.; Aylwin, S.J.B.; Burrin, J.M. 1999: Mutation in the steroidogenic factor-1 binding site of the human glycoprotein hormone alpha-subunit promoter affects cAMP-stimulated transcription. Journal of Endocrinology 163(Suppl ): P46

Javadpour, M.M.; Tardiff, J.C.; Ingwall, J.S. 2000: Mutation in the thin filament protein cTnT effects contractile function and energetics. Circulation 102(18): 2; 98

Sim, W.Y.; Ha, D.J.; Kim, S.S. 2003: Mutation in the type II hair keratin in the patients with inherited hair disorder monilethrix. Journal of Investigative Dermatology Symposium Proceedings 8(1): 153

Chiang, W.; Linz, J.; Maile, M.; Strasburg, G. 2002: Mutation in turkey alpha-RyR genomic DNA. Journal of Dairy Science 85(Suppl 1): 129

Frankenberg, D.; Frankenberg-Schwager, M.; Garg, I.; Pralle, E.; Uthe, D.; Greve, B.; Severin, E.; Göhde, W. 2002: Mutation induction and neoplastic transformation in human and human-hamster hybrid cells: dependence on photon energy and modulation in the low-dose range. Journal of Radiological Protection: Official Journal of the Society for Radiological Protection 22(3a): A17-A20

Kurobe, T.; Nohmi, T.; Kusakabe, M.; Masumura, K.; Yoshiki, A.; Yamaguti, H.; Kuniya, K.; Hanaoka, F.; Yatagai, F. 2000: Mutation induction by heavy-ion irradiation of gpt DELTA transgenic mouse. Journal of Radiation Research 41(4): 439

Tanaka, A. 2003: Mutation induction by ion beams in higher plants. Radioisotopes 52(4): 186-194

Heflich, R.H.; Von Tungeln, L.S.; Hamilton, L.P.; Dobrovolsky, V.N.; Bishop, M.E.; Gamboa, D.C.sta, G.; Beland, F.A. 2001: Mutation induction in neonatal mice treated with antiretroviral nucleoside analog drugs. Environmental and Molecular Mutagenesis 37(Suppl 32): 37

Hwang, J.J.; Lin, G.L.; Huang, J.Y.; Deng, W.P. 2003: Mutation induction of Hprt gene by ionizing radiation in human nasopharyngeal carcinoma cell lines. Journal of Radiation Research 44(4): 370

Caporale, L.H. 2000: Mutation is modulated: implications for evolution. Bioessays: News and Reviews in Molecular Cellular and Developmental Biology 22(4): 388-395

Hill, K.A.; Halangoda, A.; Heinmoeller, P.W.; Chitaphan, C.; Wang, J.; Sommer, S.S. 2001: Mutation load in the mouse is age and tissue specific but not obviously related to rates of cell proliferation. American Journal of Human Genetics 69(4 Suppl): 645

Hill, K.A.; Halangoda, A.; Heinmoller, P.W.; Chitaphan, C.C.; Sommer, S.S. 2001: Mutation load over the life of the mouse is age and tissue specific but not obviously related to rates of cell proliferation. Environmental and Molecular Mutagenesis 37(Suppl 32): 38

Ramakrishnan, B.; Qasba, P.K. 2002: Mutation of Arg228 residue to Lysine enhances the glucosyltransferase activity of beta1,4-galactosyltransferase-I. Glycobiology 12(10): 691

Gales, C.; Kowalski Chauvel, A.; Dufour, M.N.; Seva, C.; Moroder, L.; Pradayrol, L.; Vaysse, N.; Fourmy, D.; Silvente Poirot, S. 2000: Mutation of Asn391 within the highly conserved NPXXY motif of the cholecystokinin B receptor abolishes Gq protein activation without affecting its association with the receptor. Gastroenterology 118(4 Suppl 2 Pt 1): AGA A305

Paddock, M.L.; Feher, G.; Okamura, M.Y. 2000: Mutation of Asp-M17 and Asp-L210 blocks proton transfer in bacterial RCs of Rb sphaeroides. Biophysical Journal 78(1 Part 2): 337A

Maslen, C.L.; Robinson, S.W.; Morris, C.D. 2002: Mutation of CRELD1 associated with an atrioventricular canal defect. American Journal of Human Genetics 71(4 Suppl): 209

Sibley, K.; Kennedy, W.; Knowles, M. 2001: Mutation of FGFR3 in transitional cell carcinoma. British Journal of Cancer 85(Suppl 1): 79

Kim, Y.S.; Kim, Y.S.; Hong, S.J.; Moon, J.H.; Kim, J.O.; Cho, J.Y.; Lee, J.S.; Lee, M.S.; Shim, C.S. 1999: Mutation of HBV enhancer II in chronic HBV carriers. Gastroenterology 116(4 Part 2): A749

Kanematsu, D.; Kuroda, R.; Kuroda, H. 2001: Mutation of IP3 receptor or ryanodine receptor did not affect the Ca2+-transient in C elegans oocytes. Zoological Science 18: 87

Abraham, E.; Huaqian, J.; Shroff, N.; Cherian Shaw, M.; George, A.; Bera, S. 2001: Mutation of Lys-11 and Lys-166 in alphaA-crystallin and Lys-90 and Lys-92 in alphaB-crystallin inhibits glycation and its effect on chaperone activity. IOVS Investigative Ophthalmology and Visual Science 42(4): S291

Dong, J.T.; Li, C.L.; Frierson, H.F.Jr 1999: Mutation of PTEN/MMAC1 in prostate cancer of Chinese origin. Proceedings of the American Association for Cancer Research Annual Meeting 40: 277

Agrawal, A.; Simpson, M.; Black, S.; Kushner, I.; Samols, D. 2002: Mutation of Phe66 or Glu81 in C-reactive protein abolishes binding to pneumococcal C-polysaccharide. FASEB Journal 16(4): A685-A686

Styrenius, M.; Studahl, M.; Conradi, N.; Bergstrom, T. 2000: Mutation of Ser257 of glycoprotein E gene in clinical isolates of herpes simplex virus type 1 of encephalitic origin. Journal of Neurovirology 6(5): 431

Berman, D.M.; Hutchins, G.M.; Beachy, P.A. 2001: Mutation of Sonic hedgehog causes cloacal anomalies. Laboratory Investigation 81(1): 213A

Metzger, T.G.; Paterlini, M.G.; Ferguson, D.M.; Portoghese, P.S. 1999: Mutation of Threonine 279 in the rat mu opioid receptor displays enhanced agonist affinity and substantial up-regulation after naloxone pretreatment. Society for Neuroscience Abstracts 25(1-2): 1707

Van Dort, C.J.; Schultz, S.E.; Burnatowska Hledin, M. 2002: Mutation of VACM-1, a cul 5 gene, induces cellular growth and converts endothelial cells to the angiogenic phenotype. FASEB Journal 16(4): A526

Coleman, H.; Berdougo, E.; Bruno, T.; Olale, F.; Yelon, D. 2003: Mutation of Vmhc disrupts contractility of the embryonic zebrafish ventricle. Developmental Biology 259(2): 538

Forman, S.A.; Zhou, Q.L. 2001: Mutation of a conserved M2 domain leucine reverses ethanol effects in alpha4beta2 neuronal nAChRs. Alcoholism Clinical and Experimental Research 25(5 Suppl A): 16A

Bloom, D.A.; Jaiswal, A.K. 2000: Mutation of a conserved cysteine residue in the DNA binding domain of NRF-2. Proceedings of the American Association for Cancer Research Annual Meeting 41: 585

Miljan, E.A.; George, D.; Mania Farnell, B.; Bremer, M.J.; Bremer, E.G. 2002: Mutation of a conserved tryptophan in the extracellular domain of the epidermal growth factor receptor results in decreased GM3 binding. Glycobiology 12(10): 687

Strumberg, D.; Nitiss, J.L.; Rose, A.; Nicklaus, M.C.; Pommier, Y. 1999: Mutation of a converved serine-residue in a quinolone-resistant type II-topoisomerase alters the enzyme-DNA and etoposide interactions. Proceedings of the American Association for Cancer Research Annual Meeting 40: 680

Roberts, D.P.; Lohrke, S.M.; Mckenna, L.; Baker, C.J.; Li, W.; Dery, P.D.; Buyer, J.S. 2002: Mutation of a cyaA homologue in Enterobacter cloacae results in reduced colonization of cucumber but does not affect biocontrol of damping-off. Phytopathology 92(6 Suppl): S69

Kanauchi, Y.; Muragaki, Y.; Ogino, T.; Tsuchida, H.; Kashiwa, H.; Ishigaki, D. 2000: Mutation of a gene in Apert syndrome with ankylosis of the elbow joint. Teratology 62(3): 25A

Carlson, B.X.; Engblom, A.C.; Kristiansen, U.; Schousboe, A.; Olsen, R.W. 1999: Mutation of a glycine residue in the first transmembrane region of the GABAA beta2 subunit alters anesthetic and agonist sensitivity. Society for Neuroscience Abstracts 25(1-2): 1711

Toro, J.R.; Anikster, Y.; Huizing, M.; White, J.; Shevchenko, Y.; Bale, S.; Gahl, W. 2002: Mutation of a novel gene causes a Hermansky-Pudlak syndrome in central Puerto Rico. Journal of Investigative Dermatology 119(1): 269

Denbow, C.J.; Daniel, A.; Medina Bolivar, F.; Cramer, C.L. 1999: Mutation of a potential ER retrieval signal in 3-hydroxy-3-methylglutaryl coenzyme A reductase and its effects on localization in Xanthi tobacco cells. Plant Biology (Rockville) : 86

Thompson, S.A.; Hall, J.E.; Baltzegar, A.D.; Yates, B.D.; Maani, E.V.; Pajaniappan, M.; Falkow, S.; Gaynor, E.C.; Mishra, A.K.; Burns, C.M. 2003: Mutation of a predicted Campylobacter jejuni DNA methylase affects the expression of multiple genes. IJMM International Journal of Medical Microbiology 293(Suppl 35): 21-22

Wilson, K.C.; Cruikshank, W.W.; Center, D.M.; Zhang, Y. 2001: Mutation of a putative Cdc2 kinase substrate site in the N-terminal domain of pro-IL-16 reduces the arrest of cells in G0/G1. FASEB Journal 15(5): A1195

Fang, J.; Rothenburg, S.; Koch-Nolte, F.; Thiele, H.G.; Haag, F. 1999: Mutation of a putative TATA motif does not affect transcription by the promoter of the rat T cell differentiation marker RT6. Transplantation Proceedings 31(3): 1629-1630

Allikmets, R.; Raskind, W.H.; Hutchinson, A.; Schueck, N.D.; Dean, M.; Koeller, D.M. 1999: Mutation of a putative mitochondrial iron transporter gene in X-linked sideroblastic anemia and ataxia. Pediatric Research 45(4 Part 2): 135A

Elmishad, A.; Layman, R.; Clark, I.; Younes, M.; Boss, G.; Byerley, L. 1999: Mutation of a single oncogene mimics the changes in glucose metabolism observed in tumor cells. Proceedings of the American Association for Cancer Research Annual Meeting 40: 506

Chen, P.E.; Mok, M.H.S.; Schoepfer, R.; Wyllie, D.J.A. 2000: Mutation of a threonine residue in the NR2D subunit reduces glutamate potency and shortens deactivation times of macroscopic responses in recombinant NMDA NR1a/NR2D receptors. European Journal of Neuroscience 12(Suppl 11): 39

Diaz, G.A.; Gelb, B.D.; Khan, K.T.S.; Kambouris, M.; Sakati, N.; Hershkovitz, E.; Parvari, R. 2002: Mutation of a tubulin folding gene, TCFE, causes the autosomal recessive Kenny-Caffey syndrome. Journal of Investigative Medicine 50(2): 161A

Diaz, G.A.; Al Aqeel, A.; Gelb, B.D.; Gordon, R.; Gorodischer, R.; Gregory, S.; Grossman, N.; Hershkovitz, E.; Kambouris, M.; Khan, K.T.S.; Loeys, B.; Meyer, B.F.; Mortier, G.; Parvari, R.; Sakati, N.; Sharony, R.; Weiner, R.; Zecic, A.; Hrd/Sanjad Sakati/Autosomal Recessive Kenny Caffey Syndrome 2002: Mutation of a tubulin-specific chaperone, TBCE, causes the HRD/Sanjad-Sakati/autosomal recessive Kenny-Caffey syndrome. American Journal of Human Genetics 71(4 Suppl): 209

Ueno, S.; Mascia, M.P.; Trudell, J.R.; Mihic, S.J.; Lin, A.; Nikolaeva, N.B.; Harrison, N.L.; Harris, R.A. 1999: Mutation of amino acids in TM2 of the GABAA receptor alpha subunit Effects on the action of alcohols. Alcoholism Clinical and Experimental Research 23(5 Suppl): 13A

Leal Pinto, E.; Abramson, R.G.; Zhao, X.; Cohen, B.E.; Lipkowitz, M.S. 2003: Mutation of amino- and carboxy- sugar binding sites differentially regulates urate channel activity of Human hUAT/Galectin 9. Journal of the American Society of Nephrology 14(Abstracts Issue): 306A

Reeves, D.C.; Lummis, S.C.R. 2000: Mutation of an isoleucine residue in M2 alters the Ca2+ permeability of 5-HT3A receptors. British Journal of Pharmacology 129(Proceedings Suppl): 39P

Lohrke, S.M.; Mckenna, L.; Baker, C.J.; Liu, S.; Dery, P.D.; Buyer, J.S.; Roberts, D.P. 2002: Mutation of an sdhA homologue in Enterobacter cloacae results in reduced colonization of cucumber but does not affect biocontrol of damping-off. Phytopathology 92(6 Suppl): S48-S49

Shroff, N.P.; Cherian, M.; Abraham, E.C. 1999: Mutation of arginine-116 to cysteine generates a highly aggregated alphaA-crystallin with partial loss of the chaperone function Probable cause of congenital cataract. IOVS Investigative Ophthalmology and Visual Science 40(4): S786

Kannabiran, C.; Wawrousek, E.; Sergeev, Y.; Rao, G.N.; Kaiser Kupfer, M.; Hejtmancik, J.F. 1999: Mutation of beta A3/A1 crystallin gene in autosomal dominant zonular cataract with sutural opacities results in protein with single globular domain. IOVS Investigative Ophthalmology and Visual Science 40(4): S786

Risinger, J.I.; Maxwell, G.L.; Berchuck, A.; Barrett, J.C. 1999: Mutation of beta-catenin in endometrial hyperplasia and carcinoma. Proceedings of the American Association for Cancer Research Annual Meeting 40: 271

Hiwatari, M.; Taki, T.; Tsuchida, M.; Hanada, R.; Hongo, T.; Sako, M.; Hayashi, Y. 2003: Mutation of c-KIT and platelet-derived growth factor receptor alpha genes in childhood acute myeloid leukemia and leukemic cell lines. Blood 102(11): 865a

Fukao, M.; Mason, H.; Britton, F.; Kenyon, J.; Horowitz, B.; Keef, K. 1999: Mutation of cGMP-dependent protein kinase site at serine 1072 removes activation of cloned KCa channels by PKG. Biophysical Journal 76(1 Part 2): A186

Tamai, I.; Ohashi, R.; Nezu, J.; Oku, A.; Hashimoto, N.; Nikaido, H.; Sai, Y.; Hayakawa, J.I.; Shimane, M.; Tsuji, A. 1999: Mutation of carnitine transporter OCTN2 in primary systemic carintine deficient jvs mice. Japanese Journal of Pharmacology 79(Suppl 1): 108P

Rabbani, F.; Cordon-Cardo, C. 2000: Mutation of cell cycle regulators and their impact on superficial bladder cancer. Urologic Clinics of North America 27(1): 83

Gao, L.; Tripathy, A.; Xu, L.; Pasek, D.; Balshaw, D.; Xin, C.; Meissner, G. 1999: Mutation of charged amino acids in a putative lumenal loop of the skeletal muscle Ca2+ release channel results in the loss of high affinity ryanodine binding. Biophysical Journal 76(1 Part 2): A303

Haynes, J.L.; Hahn, J.; Dubnau, D. 2000: Mutation of comGA and genetic competence in Bacillus subtilis. AAAS Annual Meeting and Science Innovation Exposition 166: A74, February 17-22

Overstreet, M.A.; Walker, L.C.; Murad, S.; Yeowell, H.N. 1999: Mutation of cysteine residues 369, 552, and 687 in lysyl hydroxylase 1 eliminates enzyme activity. Journal of Investigative Dermatology 112(4): 589

Jung, Y.; Ha, H.; Sohn, J.H.; Lee, H.W.; Jung, S.H.; Yeh, B.I. 2000: Mutation of cystic fibrosis gene in patients with lung cancer. Biochemical Society Transactions 28(5): A303

Du, G.G.; Maclennan, D.H. 2000: Mutation of divergent region 1 causes changes in caffeine and Ca2+ sensitivity of the skeletal muscle Ca2+ release channel. Biophysical Journal 78(1 Part 2): 124A

Ren, Z.X.; Li, A.; Shastry, B.S.; Padma, T.; Ayyagari, R.; Scott, M.H.; Parks, M.M.; Kaiser Kupfer, M.I.; Hejtmancik, J.F. 2000: Mutation of gamma-crystallin gene on chromosome 2q33-q35 and the autosomal dominant zonular pulverulent cataract. IOVS Investigative Ophthalmology and Visual Science 41(4): S97

Mascia, M.P.; Trudell, J.R.; Harris, R.A. 1999: Mutation of glycine receptors Implications for receptor structure and alcohol actions. Alcoholism Clinical and Experimental Research 23(5 Suppl): 12A

Stewart, A.K.; Chernova, M.N.; Wilhelm, S.; Shmukler, B.E.; Alper, S.L. 2002: Mutation of highly conserved amino acid residues in the AE2 anion exchanger N-terminal cytoplasmic domain selectively alters regulation by intracellular pH and by extracellular pH. Journal of the American Society of Nephrology 13(Program and Abstracts Issue): 10A-11A

Xiong, K.M.; Li, C.; Stewart, R.R.; Weight, F.F. 2003: Mutation of histidine 241 of the rat P2X4 receptor alters modulation of receptor function by n-alcohols. Alcoholism Clinical and Experimental Research 27(5 Suppl): 93A

Blakey, D.C.; Hennam, J.F.; Forder, C.L.; Fitton, J.E.; Slater, A.M.; Davies, D.H.; Dowell, R.I.; Edge, M.D. 1999: Mutation of human carboxypeptidase B to alter substrate specificity. Proceedings of the American Association for Cancer Research Annual Meeting 40: 354

Endres, C.J.; Sengupta, D.J.; Unadkat, J.D. 2004: Mutation of leucine-92 selectively reduces the apparent affinity of inosine, guanosine, NBMPR -mercaptopurine riboside and dilazep for the human equilibrative nucleoside transporter, hENT1. Biochemical Journal 380(Part 1): 131-137

Gibasiewicz, K.; Ramesh, V.M.; Lin, S.; Redding, K.; Woodbury, N.W.; Webber, A.N. 2001: Mutation of ligands to connecting chlorophylls perturbs excitation dynamics in the core antenna of PS I from Chlamydomonas reinhardtii. Photosynthesis Research 69(1-3): 67

Li, D.; Jakobs, P.; Parks, S.B.; Bestwick, M.; Kushner, J.; Burkett, E.; Ludwigsen, S.; Litt, M.; Hershberger, R. 2003: Mutation of muscle LIM protein is an uncommon genetic cause for familial dilated cardiomyopathy. American Journal of Human Genetics 73(5): 553

Yamaguchi, H.; Inokuchi, K.; Tarusawa, M.; Nakamura, K.; Nomura, T.; Dan, K. 2000: Mutation of p51A/Tap63 gamma gene is associated with blastic crisis in chronic myeloid leukemia. Experimental Hematology 28(7 Suppl 1): 76

Reisman, D.; Mcfadden, J.; Lin, N.; Best, R.G.; Lu, G. 2002: Mutation of p53 gene in ocular pterygia. American Journal of Human Genetics 71(4 Suppl): 503

Yu, L.Y.; Liu, M.Q.; Zhou, Z.Y.; Xia, D. 1999: Mutation of p53 gene may be an early genetic alteration in lung cancer development and associated with smoking. Proceedings of the American Association for Cancer Research Annual Meeting 40: 185

Campomenosi, P.; Fronza, G.; Filiberti, R.; Blanchi, S.; Lapertosa, G.; Giacosa, A.; Conio, M. 2002: Mutation of p53 in the progression of Barretts epithelium to invasive esophageal cancer A prospective study. Gastroenterology 122(4 Suppl 1): A-352

Hao, Y.dong; Miller, Mark, S.; Swank, Douglas, M.; Liu, Hongjun; Bernstein, Sanford, I.; Maughan, David, W.; Pollack, Gerald, H. 2004: Mutation of paramyosin phosphorylation sites affects the passive stiffness of Drosophila indirect flight muscle. Biophysical Journal 86(1): 184a

Shimizu, K.; Ishijima, J.; Kikkawa, Y.; Yonekawa, H.; Hirasawa, T.; Wakana, S.; Balling, R.; Shiroishi, T. 2001: Mutation of ribosomal protein L38 causes abnormal skeletal development including homeotic transformation. Development Growth and Differentiation 43(Suppl): S59

Kumamaru, T.; Ogawa, M.; Satoh, H. 2001: Mutation of seed storage protein of rice. Plant and Cell Physiology 42(Suppl): s8

Morton, H.C.; Brandtzaeg, P. 2000: Mutation of specific residues within the EC1 domain of CD89 results in receptors that retain affinity for monomeric IgA but are unable to bind polymeric or secretory IgA. Immunology Letters 73(2-3): 173-174

Slepkov, E.R.; Chow, S.; Fliegel, L. 2003: Mutation of structurally important residues abolishes the activity of Na+/H+ exchanger isoform. Molecular and Cellular Proteomics 2(9): 960

Lewis, M.M.; Hoffman, B.; Henage, L.G.; Miller, D.W.; Nicholas, R.A.; Nichols, D.E.; Tropsha, A.; Mailman, R.B. 1999: Mutation of the D1A dopamine receptor reveals specific residues involved in agonist recognition and receptor activation. Society for Neuroscience Abstracts 25(1-2): 1218

Cummings, C.J.; Reinstein, E.; Jiang, Y.H.; Ciechanover, A.; Orr, H.T.; Beaudet, A.L.; Zoghbi, H.Y. 1999: Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 transgenic mice. American Journal of Human Genetics 65(4): A29

Schittenhelm, M.; Yee, K.W.H.; Braziel, R.; Bainbridge, T.; O'farrell, A.M.; Cherrington, J.; Schroeder, A.; Town, A.; Mcgreevey, L.; Heinrich, M.C. 2003: Mutation of the FLT3 TK1 domain A new class of activating FLT3 mutations associated with AML. Blood 102(11): 204b

Gemignani, M.L.; Bogomolniy, F.; Lin, O.; Venkatraman, E.; Barakat, R.R.; Boyd, J. 2001: Mutation of the K-ras oncogene in epithelial ovarian carcinoma. Gynecologic Oncology 80(2): 319-320

Makova, S.; Mcgrath, J.; Brueckner, M. 2001: Mutation of the N-terminus of left-right dynein results in mice with nonrandom reversal of left-right asymmetry. Developmental Biology 235(1): 287

Sokolov, S.; Agafonov, M.; Suzina, N.; Kalebina, T. 2003: Mutation of the PMT1 gene encoding O-mannosyltransferase causes severe defects of the cell-wall structure in Hansenula polymorpha. Yeast 20(Suppl 1): S59

Stallings Mann, M.L.; Wharen, R.E.; Thomas, C.Y. 2000: Mutation of the PTEN gene contributes to deregulation of the ERK pathway and activation of overexpressed epidermal growth factor receptors in glioblastoma cells. Proceedings of the American Association for Cancer Research Annual Meeting 41: 201-202

Sanjay, A.; Miyazaki, T.; Horne, W.C.; Baron, R. 2002: Mutation of the Src SH3 binding site on Cbl reduces Src-Cbl interaction, Cbl phosphorylation and bone resorption in osteoclasts. Journal of Bone and Mineral Research 17(Suppl 1): S457

Yoder, B.K.; Taulman, P.D.; Haycraft, C.J.; Krum, S.M.; Murcia, N.S.; Richards, W.G.; Woychik, R.P. 2000: Mutation of the Tg737 gene reveals an important role in the development and patterning of the mammalian embryo. Developmental Biology 222(1): 232

Schramm, N.L.; Mcdonald, M.P.; Limbird, L.E. 1999: Mutation of the alpha 2A-Adrenergic Receptor in mice results in improved performance in behavioral tasks related to depression and anxiety. Society for Neuroscience Abstracts 25(1-2): 718

Matsumura, T.; Mikami, T.; Makino, R.; Mitamura, K. 1999: Mutation of the beta-catenin gene in hepatocellular carcinomas. Gastroenterology 116(4 Part 2): A459

Clements, W.M.; Wang, J.; Sarnaik, A.; Kim, O.J.; Groden, J.L.; Fenoglio Preiser, C.; Lowy, A.M. 2002: Mutation of the beta-catenin gene is a frequent cause of Wnt pathway activation in gastric cancer. Proceedings of the American Association for Cancer Research Annual Meeting 43: 154

Barlucchi, L.; Baker, M.; Padin Iruegas, M.E.; Rota, M.; Urbanek, K.; Heleniak, H.; Musso, E.; Torella, D.; Zias, E.; Nadal Ginard, B.; Leri, A. 2003: Mutation of the c-kit receptor in cardiac progenitor cells results in decompensated eccentric hypertrophy following aortic stenosis. Circulation 108(17): IV289

Seidler, T.; Kania, A.; Prestle, J.; Teucher, N.; Koegler, H.; Hasenfuss, G. 2002: Mutation of the calcineurin binding site in FKBP126 leads to loss of the FKBP126 mediated increase in contractile performance. European Heart Journal 23(Abstract Suppl): 542

Seidler, T.; Kania, A.; Prestle, J.; Teucher, N.; Wagner, S.; Koegler, H.; Hasenfuss, G. 2002: Mutation of the calcineurin binding site in the 126 kDa FK-506 binding protein leads to loss of the FKBP126 mediated increase in myocardial contractile performance. Circulation 106(19): II224

Volk, K.A.; Snyder, P.M.; Stokes, J.B. 2001: Mutation of the carboxy-terminal kinase sensitive region in the alpha subunit of human ENaC reduces surface expression. Journal of the American Society of Nephrology 12(Program and Abstract Issue): 42A-43A

Maeno, K. 2003: Mutation of the class I beta-tubulin gene rare in breast cancer. Proceedings of the American Association for Cancer Research Annual Meeting 44: 1265

Kimura, S.; Okabayashi, Y.; Inushima, K.; Yutsudo, Y.; Yao, Z.; Kida, K.; Kochi, T.; Sakaguchi, K.; Kasuga, M. 1999: Mutation of the cystic fibrosis gene in Japanese patients with chronic pancreatitis. Gastroenterology 116(4 Part 2): A1138

Vieira, H.; Gregory Evans, K.; Harmann, F.; Ormestad, M.; D'esposito, F.; Jain, R.; Ruben, S.; Carlsson, P.; Gregory Evans, C.V. 2003: Mutation of the forkhead gene FOXF2 causes iris hypoplasia and glaucoma. Genetical Research 81(3): 231

Anonymous 2000: Mutation of the gene CD45 and Severe combined immunodeficiency. M-S (Medecine Sciences) 16(5): 688

Lockman, H.A.; Gillespie, R.A.; O'brien, A.D. 2000: Mutation of the gene encoding cytotoxic necrotizing factor type 1 attenuates the virulence of Escherichia coli in a mouse model of urinary tract infection. Abstracts of the General Meeting of the American Society for Microbiology 100: 65

Tanizawa, Y.kio; Sasaki, Terumasa; Nakai, Kazuaki; Ohta, Yasuharu; Anno, Takatoshi; Inoue, Hiroshi; Oka, Yoshitomo 2001: Mutation of the glutamate dehydrogenase gene and dysregulation of insulin secretion. Diabetes 50(Suppl 2): A354-A355

Beezhold, D.H.; Hickey, V.L.; Sussman, G.L. 2001: Mutation of the latex allergen Hev b 5 to reduce IgE binding activity. Journal of Allergy and Clinical Immunology 107(2): S319

Salah Eldin, S.; Inoue, S.; Tsuda, M.; Matsuura, A. 1999: Mutation of the membrane anchor domain of the bax gene in lung cancer cell lines not associated with the bax intracellular localization. Proceedings of the American Association for Cancer Research Annual Meeting 40: 629-630

Percy, M.J.; Myrie, K.A.; Neeley, C.K.; Azim, J.N.; Ethier, S.P.; Petty, E.M. 1999: Mutation of the mitotic arrest gene MAD2 in breast cancer. Proceedings of the American Association for Cancer Research Annual Meeting 40: 268

Rogner, U.C.; Spyropoulos, D.D.; Lenovere, N.; Changeux, J.P.; Avner, P. 2000: Mutation of the murine X-linked gene Nap1l2 by homologous recombination. European Journal of Neuroscience 12(Suppl 11): 247

Trochet, D.; Waters, K.; Trang, H.; Laudier, B.; De Pontual, L.; Munnich, A.; Gaultier, C.; Lyonnet, S.; Amiel, J. 2003: Mutation of the paired-like homeobox 2B gene in congenital central hypoventilation syndrome Vertical transmission and phenotype/genotype correlations. American Journal of Human Genetics 73(5): 550

Holliday, N.D.; Cox, H.M. 1999: Mutation of the potential palmitoylation site of the rat neuropeptide Y Y1 receptor suppresses its functional desensitisation. British Journal of Pharmacology 128(Proceedings Suppl ): 28P

Fischereder, M.; Schneeberger, H.; Lohse, P.; Kraemer, B.K.; Schloendorff, D.; Land, W. 2000: Mutation of the prothrombin gene is a risk factor after renal transplantation. Kidney and Blood Pressure Research 23(3-5): 329-330

Satake, N.; Kobayashi, T.; Izumi, K.; Hino, O. 1999: Mutation of the rat homologue of human tuberous sclerosis 1 gene in renal cell carcinoma. Proceedings of the American Association for Cancer Research Annual Meeting 40: 276

Vollrath, D.; D'cruz, P.M.; Yasumura, D.; Welr, J.; Matthes, M.T.; Abderrahim, H.; Lavail, M.M. 2000: Mutation of the receptor tyrosine kinase Mertk in the retinal dystrophic RCS rat. IOVS Investigative Ophthalmology and Visual Science 41(4): S533

Kuhn, F.J.P.; Greeff, N. 2000: Mutation of the selectivity filter domain alters recovery and immobilization of gating charge in rat brain IIA sodium channels. Biophysical Journal 78(1 Part 2): 83A

Toth, G.; Morava, E.; Jackson, K.E.; Horvath, A.; Czako, M.; Kosztolanyi, G. 1999: Mutation of the thermolabile variant of MTHFR enzyme in a family with vascular events and neural tube defects. American Journal of Human Genetics 65(4): A431

Feng, J.; Stieglitz, K.; Roberts, M.F. 2004: Mutation of two active-site residues converts a phosphatidylinositol-specific phospholipase C to a glucose phosphatase. Journal of the American Chemical Society 126(4): 1008-1009

Nakamori, S.; Nagano, H.; Dono, K.; Umeshita, K.; Sakon, M.; Kameyama, M.; Furukawa, H.; Imaoka, S.; Monden, M. 1999: Mutation of type II transforming growth factor beta receptor gene is a potential indicator for mutator phenotype but its expression is not associated with tumor progression in sporadic colorectal cancer. Proceedings of the American Association for Cancer Research Annual Meeting 40: 337

Takeshita, S.; Feng, X.; Ross, F.P.; Teitelbaum, S.L. 2002: Mutation of tyrosine 559 in c-fms to phenylalanine impairs bone resorption by reducing Akt and ERK phosphorylation. Journal of Bone and Mineral Research 17(Suppl 1): S350

Grandemenge, A.; Bourdon, V.; Philippe, C.; Jonveaux, P. 2002: Mutation or polymorphism in the MECP2 gene in mentally retarded boys Diagnostic implications. European Journal of Human Genetics 10(Suppl 1): 231

D.B.er, J.G.; Yang, H. 2002: Mutation prevention and protein profiles in mice and rats. Environmental and Molecular Mutagenesis 39(Suppl 33): 22

Blondeau, J.; Hansen, G.; Zhao, X.; Drlica, K. 2001: Mutation prevention concentration for gemifloxacin against clinical isolates of Streptococcus pneumoniae with high MPC values to levofloxacin. International Journal of Antimicrobial Agents 17(Suppl 1): S115-S116

Song, L.; Hui, R.; Zou, Y.; Huang, X.; Gao, J.; Wang, J.; Zheng, W. 2001: Mutation profile in the gene encoding sarcomere in Chinese hypertrophic cardiomyopathy. Circulation 104(17): 2; 1

Oldenburg, J. 2001: Mutation profiling in haemophilia a. Thrombosis and Haemostasis 85(4): 577-579

Eckert, K.A.; Yan, G.; Hile, S.E. 2003: Mutation rate analyses of di- and tetranucleotide microsatellites in somatic human cells ex vivo and after in vitro DNA synthesis by mammalian DNA polymerases. Proceedings of the American Association for Cancer Research Annual Meeting 44: 52

Andre, J.B.; Taddei, F.; Godelle, B. 2003: Mutation rate and the evolution of micro-parasites virulence A theoretical approach toward short sighted evolution. Infection Genetics and Evolution 2(4): 274

Henderson, S.J.; Ferguson, L.; Macaulay, V.; Loughlin, J.; Sykes, B. 2000: Mutation rate at fibroblast growth factor receptor 3 CpG dinucleotide 1137-1138. American Journal of Human Genetics 67(4 Suppl 2): 407

Meinersmann, R.; Phillips, R. 2003: Mutation rate study in 3,000 generations of Campylobacter jejuni. IJMM International Journal of Medical Microbiology 293(Suppl 35): 130

Ellegren, H.; Smith, N.G.C.; Webster, M.T. 2003: Mutation rate variation in the mammalian genome. Current Opinion in Genetics and Development 13(6): 562-568

Guan, D.; Loew, S. 2003: Mutation rates and fitness effects of heavy metal mixtures in white-footed mice. Transactions of the Illinois State Academy of Science 96(Suppl): 69

Keane, B.; Collier, M.H.; Rogstad, S.H. 2002: Mutation rates and leaf metal content in the common dandelion. Ecological Society of America Annual Meeting Abstracts 87: 175-176

Schmidt, H.H.J.; Genschel, J.; Mix, H.; Haas, R.; Sommer, G.; Buettner, C.; Manns, M.P.; Lochs, H. 2000: Mutation report on 17 German patients with Wilson disease. Hepatology 32(4 Pt 2): 485A

Awa, A.; Awa, A. 2003: Mutation research at ABCC/RERF: cytogenetic studies of atomic bomb exposed populations. Mutation Research 543(1): 1-15

Nolsøe, R.ún.L.; Pociot, F.; Novick, D.; Rubinstein, M.; Kim, S.-H.; Dinarello, C.A.; Mandrup-Poulsen, T. 2003: Mutation scan of a type 1 diabetes candidate gene: the human interleukin-18 binding protein gene. Annals of the new York Academy of Sciences 1005: 332-339

Nolsoe, R.; Pociot, F.; Novick, D.; Rubinstein, M.; Kim, S.H.; Dinarello, C.A.; Mandrup Poulsen, T. 2002: Mutation scan of the human interleukin-18 binding protein A candidate gene for type 1 diabetes. American Journal of Human Genetics 71(4 Suppl): 478

Conole, J.C.; Chilton, N.B.; Jarvis, T.; Gasser, R.B. 2001: Mutation scanning analysis of microsatellite variability in the second internal transcribed spacer for three species of Metastrongylus. Parasitology 122(2): 195-206

Passerini, E.P.; Magnani, C.M.; Beretta, E.B.; Losa, M.L.; Verga, U.V.; Libroia, A.L.; Ferrari, M.F. 1999: Mutation scanning in multiple endocrine neoplasia type 1 by double gradient-DGGE. Clinical Chemistry and Laboratory Medicine 37(SPEC Suppl ): S144

Sommer, S.S.; Feng, J.; Yan, J.; Craddock, N.; Jones, I.R.; Cook, E.H.; Goldman, D. 2001: Mutation scanning of steroid receptor gene family in patients with schizophrenia and other psychiatric disease. American Journal of Medical Genetics 105(7): 622-623

Moller, L.B. 2000: Mutation scanning of the Menkes gene ATP7A using the protein truncation test. Journal of Inherited Metabolic Disease 23(Suppl 1): 263

Furnes, B.; Sommer, S.; Feng, J.; Schlenk, D. 2003: Mutation scanning of the complete flavin-containing monooxygenase gene family in African-Americans. Toxicological Sciences 72(S-1): 99

Hawkins, G.A.; Zheng, S.L.; Cramer, S.; Isaacs, S.D.; Wiley, K.E.; Chang, B.L.; Mychaleckyj, J.; Carpten, J.D.; Bleecker, E.R.; Walsh, P.C.; Trent, J.M.; Meyers, D.A.; Isaacs, W.B.; Xu, J. 2001: Mutation screen and association test of 1-a-hydroxylase gene in prostate cancer. American Journal of Human Genetics 69(4 Suppl): 265

Zheng, S.; Hawkins, G.A.; Mychaleckyj, J.; Isaacs, S.D.; Wiley, K.E.; Turner, A.R.; Chang, B.L.; Carpten, J.D.; Bleecker, E.R.; Walsh, P.C.; Trent, J.M.; Meyers, D.A.; Isaacs, W.B.; Xu, J. 2001: Mutation screen and association test of DLC1 gene in hereditary and sporadic prostate cancer patients. American Journal of Human Genetics 69(4 Suppl): 265

Hoertnagel, K.; Rudolph, G.; Strom, T.M.; Meitinger, T. 2001: Mutation screen in patients with autosomal dominant optic atrophy. European Journal of Human Genetics 9(Suppl 1): P1489

Urak, L.; Feucht, M.; Sieghar, W.; Fuchs, K. 2004: Mutation screen of the GABA receptor beta3 subunit gene in patients with childhood absence epilepsy. Epilepsia 45(Suppl 3): 119

Fuchs, K.; Urak, L.; Sieghart, W.; Feucht, M. 2004: Mutation screen of the GABAA receptor beta3 subunit gene in patients with childhood absence epilepsy. Neuropediatrics 35(1): 68

Lu, J.; Pan, H.; Chen, Y.; Zhang, Y.; Liu, X.; Jiang, Y.; Bao, X.; Wu, X.; Shen, Y.; Wu, H.; Xu, K. 2003: Mutation screen of the gene encoding GABRB3 in Chinese patients with childhood absence epilepsy. American Journal of Medical Genetics. Part a 123a (2): 197-200

Lappalainen, J.; Sanacora, G.; Kranzler, H.R.; Malison, R.; Price, L.H.; Krystal, J.; Gelernter, J. 2002: Mutation screen of the glutamate decarboxylase 67 gene and haplotype association study to unipolar depression. American Journal of Human Genetics 71(4 Suppl): 505

Gault, J.M.; Logel, J.; Hopkins, J.; Vianzon, R.; Short, M.; Robinson, M.; Drebing, C.; Berger, R.; Walton, K.; Sullivan, B.; Freedman, R.; Leonard, S. 2000: Mutation screen of the human alpha7 neuronal nicotinic receptor gene promoter in normal and schizophrenic individuals. American Journal of Human Genetics 67(4 Suppl 2): 353

Kim, S.; Herzing, L.B.K.; Veenstra Vanderweele, J.; Lord, C.; Courchesne, R.; Leventhal, B.L.; Ledbetter, D.H.; Courchesne, E.; Cook, E.H. 2001: Mutation screening and association study of ATP10C in autism. American Journal of Human Genetics 69(4 Suppl): 521

Shinya, M.; Yamamoto, A.; Oka, A.; Uchida, M.; Tokubo, E.; Sato, R.; Inoko, H. 2002: Mutation screening and association study of LIMK1 in autism. American Journal of Human Genetics 71(4 Suppl): 474

Consugar, Mark; Rossetti, Sandro; Torra, Roser; Coto, Eliecer; Anderson, Sarah; Cunningham, Julie; Kubly, Vickie; El Yousef, Mounif; Torres, Vicente E.; Harris, Peter C. 2003: Mutation screening and enhanced haplotype analysis to improve molecular diagnostic screening of ARPKD. Journal of the American Society of Nephrology 14(Abstracts Issue): 107A

Gong, W.; Gottlieb, S.; Collins, J.; Blescia, A.; Dietz, H.; Mcdonald Mcginn, D.M.; Zackai, E.H.; Emanuel, B.S.; Driscoll, D.A.; Budarf, M.L. 2001: Mutation screening and further analysis of TBX1 in non-deleted patients with Di-George/Velocardiofacial syndrome. American Journal of Human Genetics 69(4 Suppl): 611

Tukel, T.; Yuksel Apak, M.; Wei, J.Q.; Uyguner, O.; Bas, F.; Song, D.X.; Kayserili, H.; Saka, N.; Gunoz, H.; Wilson, R.C.; New, M.I.; Wollnik, B. 2001: Mutation screening and prenatal diagnosis in Turkish 21-hydroxylase deficiency families, and development of a novel semi-quantitative PCR/enzyme digestion based approach for detection of large scale deletions/conversions of the gene. European Journal of Human Genetics 9(Suppl 1): P1056

Lobos, E.A.; Todd, R.D. 2001: Mutation screening by DHPLC The learning curve. American Journal of Human Genetics 69(4 Suppl): 430

Taylor, A.; Cranston, T.; Tabrah, S.; Norbury, G. 2002: Mutation screening for autosomal recessive malignant osteopetrosis. Journal of Medical Genetics 39(Suppl 1): S64

Itoh, K.; Sasagawa, I.; Suzuki, Y.; Ashida, J.; Nakada, T.; Ogata, T. 2002: Mutation screening for the 5alpha-reductase type 2 gene in Japanese men with idiopathic azoospermia. Fertility and Sterility 77(5): 1079-1080

Escayg, A.; Lee, D.D.; Baloh, R.; Sander, T.; Meisler, M.H. 1999: Mutation screening for the calcium channel beta subunit gene CACNB4 in familial ataxia and epilepsy. American Journal of Human Genetics 65(4): A293

Ten Cate, A.J.; van de Hoek, Y.T.; Reitsma, P.H.; ten Cate, H.; Smits, P. 2002: Mutation screening for thrombophilia: two cases with factor V Cambridge without activated protein C resistance. Thrombosis and Haemostasis 87(5): 919-920

Losonczy, M.D.vid H.; Nagy, A.; Kutscher, G.; Meyer, M. 1999: Mutation screening in Hungarian subjects with low protein C activity. Haemostasis 29(Suppl 1): 121-122

Francis, P.J.; Berry, V.; Moore, A.; Bhattacharya, S.S. 2000: Mutation screening in a family with coralliform cataract that maps to chromosome 2q. IOVS Investigative Ophthalmology and Visual Science 41(4): S1

Bertorelli, R.; Coviello, D.A.; Pastorino, L.; Nasti, S.; Caleffi, A.; Ajmar, F. 2000: Mutation screening in hypertrophic cardiomyopathy. European Journal of Human Genetics 8(Suppl 1): 148

Paschke, E.; Czapka, M.; Paul, K.; Erwa, W. 2002: Mutation screening in lysosomal enzyme genes by real-time monitoring of melting behavior in oligosaccharides labeled with SYBR green. European Journal of Human Genetics 10(Suppl 1): 197-198

Pappalardo, E.; Terlizzi, M.A.; Folcioni, A.; Zingale, L.C.; Cicardi, M. 2002: Mutation screening in patients with hereditary angioedema. International Immunopharmacology 2(9): 1384-1385

Toydemir, P.B.; Mcdonald, J.; Ward, K.; Mao, R. 2003: Mutation screening in patients with hereditary haemorrhagic telangiectasia. American Journal of Human Genetics 73(5): 577

Hugot, J.P.; Zouali, H.; Colombel, J.F.; Epimad; Belaiche, J.; Getaid; Cezard, J.P.; Ewggp Ibd; Gassull, M.; Tysk, C.; Almer, S.; Binder, V.; Van Gossum, A.; Lofberg, R.; Parrello, T.; Montague, S.; Malchow, H.; Lesage, S.; Chamaillard, M.; Thomas, G.; European Concerted Action, O.T.e Genetics, O.I.flammatory Bow 1999: Mutation screening in the CD19 and CD43 genes in Crohn Disease patients. JPGN 28(5): 558

Mardin, C.Y.; Zenker, M.; Mayer, U.; Naumann, G.O.H.; Rautenstrauss, B.; Michels Rautenstrauss, K. 1999: Mutation screening in the CYP1B1 gene of German primary congenital glaucoma patients. American Journal of Human Genetics 65(4): A478

Witsch-Baumgartner, M.; Loeffler, J.; Menzel, H.J.; Utermann, G.; Neuhaus, C. 2001: Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder. American Journal of Medical Genetics 102(1): 106-107

Rampazzo, A.; Bagattin, A.; Tiso, N.; Piva, S.; Nava, A.; Bauce, B.; Basso, C.; Thiene, G.; Danieli, G.A. 2001: Mutation screening in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2. European Heart Journal 22(Abstract Suppl): 238

Chen, R.; Forno, L.S.; Di Monte, D.A.; Togasaki, D.; Langston, J.W.; Chan, P. 1999: Mutation screening in the coding region of alpha-synuclein gene in multiple system atrophy. Society for Neuroscience Abstracts 25(1-2): 51

Plengvidhya, N.; Yenchitsomanas, P.T.; Boonyanisawat, W.; Vannaseang, S.; Sriussadaporn, S.; Ploybutr, S.; Banchuin, N. 2003: Mutation screening of 6 MODY genes in early-onset autosomal dominant type 2 diabetes in Thai at Siriraj Hospital A university hospital experience. Diabetes 52(Suppl 1): A514-A515

Murton, N.J.; Toomes, C.; Mackey, D.A.; Inglehearn, C.F.; Churchill, A.J. 2001: Mutation screening of OPA1 in dominant optic atrophy. IOVS Investigative Ophthalmology and Visual Science 42(4): S650

Kaushal, S.; Vithana, E.N.; Abu Safieh, L.; Payne, A.M.; Bhattacharya, S.S. 2000: Mutation screening of RPE G-coupled protein receptor in retinitis pigmentosa. IOVS Investigative Ophthalmology and Visual Science 41(4): S194

Radak, A.L.; Demirci, E.Y.; Rigatti, B.W.; Traboulsi, E.I.; Alitalo, T.; Mah, T.S.; Gorin, M.B. 2002: Mutation screening of RPGR in male patients with X-linked or sporadic forms of retinitis pigmentosa or cone-rod dystrophy. American Journal of Human Genetics 71(4 Suppl): 554

Preising, M.N.; Rosenberg, T.; Kellner, U.; Meschede, D.; Brauer, U.; Lorenz, B. 2001: Mutation screening of RetGC1 and RPE65 in patients with LCA and RP. IOVS Investigative Ophthalmology and Visual Science 42(4): S644

Chakarova, C.F.; Vithana, E.; Ebenezer, N.; Papaioannou, M.; Bird, A.C.; Bhattacharya, S.S. 2001: Mutation screening of SF2 and HPRP3P in patients with autosomal dominant Retinitis pigmentosa. American Journal of Human Genetics 69(4 Suppl): 625

Prasad, S.D.; Kolin, K.A.; Cucci, R.A.; Van Hauwe, P.; Coucke, P.; Trembath, R.; Van Camp, G.; Smith, R.J.H. 2002: Mutation screening of SLC26A4 by DHPLC. American Journal of Human Genetics 71(4 Suppl): 375

Verhoeven, K.; De Vriendt, E.; Van Gerwen, V.; Auer Grumbach, M.; Pou Serradell, A.; De Jonghe, P.; Timmerman, V. 2001: Mutation screening of SPTLC1 in patients with Hereditary sensory neuropathy type I. American Journal of Human Genetics 69(4 Suppl): 601

Yang, T.; Carmi, R.; Bayazit, Y.; Ramesh, A.; Kurima, K.; Cable, B.; Elbedour, K.; Srisailapathy, C.R.S.; Griffith, A.J.; Sheffield, V.C.; Smith, R.J.H. 2002: Mutation screening of TMC1 in DFNB7/11 families. American Journal of Human Genetics 71(4 Suppl): 319

Xiang, F.; Buervenich, S.; Nicolao, P.; Bailey, M.E.S.; Edstrom, L.; Anvret, M.; Zhang, Z. 1999: Mutation screening of candidate genes in Rett syndrome. American Journal of Human Genetics 65(4): A499

Matera, I.; Bachetti, T.; Cinti, R.; Santamaria, G.; Mosca, F.; Morandi, F.; Motta, M.; Ottonello, G.; Plumelli, R.; Schober, J.G.; Ghizzi, C.; Villa, M.P.; Ravazzolo, R.; Ceccherini, I. 2002: Mutation screening of candidate genes in congenital central hypoventilation syndrome. American Journal of Human Genetics 71(4 Suppl): 506

Li, D.; Karibe, A.; Czernuszewicz, G.; Gonzalez, O.; Bachinski, L.; Roberts, R. 2000: Mutation screening of candidate genes in the critical region of FDCM mapped to chromosome 1q32. American Journal of Human Genetics 67(4 Suppl 2): 304

Dancel, R.D.; Stajich, J.M.; Vance, J.M.; Pricak Vance, M.A.; Gaskell, P.C.; Gilchrist, J.M.; Tim, R.W.; Speer, M.C.; Hauser, M.A. 2001: Mutation screening of caveolin-3 and myotilin in autosomal dominant Limb Girdle Muscular Dystrophy and other dominant myopathies. American Journal of Human Genetics 69(4 Suppl): 625

Diaz, M.; Martinez, F.; Flores Martinez, S.E.; Dean, M.; Flores, L.A.; Gallegoa Arreola, M.P.; Moran Moguel, M.C.; Sanchez Corona, J. 1999: Mutation screening of cystic fibrosis gene in Mexican patients with congenital bilateral absence of vas deferens. Journal of Andrology (Suppl): 37

Gerber, S.; Chandrasekharappa, S.; Sumegi, J.; Elledge, S.; Bonneau, D.; Rozet, J.M.; Perrault, I.; Ducroq, D.; Munnich, A.; Kaplan, J. 2000: Mutation screening of five candidate genes in 10 families affected with Usher syndrome type 1A. IOVS Investigative Ophthalmology and Visual Science 41(4): S195

Mariani, S. 1999: Mutation screening of pseudoautosomal gene SHOX in idiopathic short stature. Hormone Research 51(Suppl 2): 33

Udar, N.S.; Kenney, C.; Chalukya, M.; Anderson, T.; Yellore, V.; Yelchits, S.; Brown, D.; Nesburn, A.B.; Small, K.W. 2002: Mutation screening of the BIGH3 gene in patients with keratoconus. European Journal of Human Genetics 10(Suppl 1): 245

Kalmar, L.; Bors, A.; Andrikovics, H.; Homolya, V.; Senyi, K.; Hollo, G.; Tordai, A. 2002: Mutation screening of the CYP-1B1 gene in patients with primary congenital glaucoma, and among healthy Gypsies. European Journal of Human Genetics 10(Suppl 1): 291

Stoilov, I.R.; Costa, V.P.; Vasconcellos, J.P.C.; Mello, M.B.; Betinjane, A.J.; Carani, J.C.E.; Oltrogge, E.V.; Sarfarazi, M. 2001: Mutation screening of the CYP1B1 gene and phenotype-genotype correlation in Primary Congenital Glaucoma cases from Brazil. IOVS Investigative Ophthalmology and Visual Science 42(4): S530

Silva, I.D.C.; Cedenho, A.P.; Hassun, P.A. 2002: Mutation screening of the DIAPH2 gene A candidate gene for ovarian differentiation and follicular apoptosis. Theriogenology 57(1): 625

Barrett, T.B.; Alexander, M.; Hauger, R.L.; Kelsoe, J.R. 2000: Mutation screening of the GRK3 gene in bipolar disorder. American Journal of Medical Genetics 96(4): 494

Deltas, C.; Bouba, I.; Koptides, M.; Pierides, A.; Siamopoulos, K. 2001: Mutation screening of the PKD1 gene in 55 families of Hellenic origin. European Journal of Human Genetics 9(Suppl 1): P1055

Deffenbacher, K.E.; Hoover, D.M.; Kenyon, J.B.; Olson, R.K.; Defries, J.C.; Smith, S.D. 2001: Mutation screening of the SynGAP gene in patients with dyslexia. American Journal of Human Genetics 69(4 Suppl): 538

Issa, Z.; Gokhale, D.A.; Dixon, M.J.; Dixon, J.; Elles, R.G. 2003: Mutation screening of the TCOF-1 gene in treacher-collins syndrome. Journal of Medical Genetics 40(Suppl 1): S79

Benit, P.; Kara Mostefa, A.; Hadj Rabia, S.; Munnich, A.; Bonnefont, J.P. 1999: Mutation screening of the Tuberous Sclerosis gene 1 by protein truncation test. American Journal of Human Genetics 65(4): A284

Craig, N.; Cooke, A.; Tolmie, J.; Boxer, M. 2002: Mutation screening of the UBE3A gene. Journal of Medical Genetics 39(Suppl 1): S64

Ohtsuki, T.; Kojima, T.; Shen, Y.C.; Han, Y.H.; Arinami, T. 2003: Mutation screening of the apolipoprotein-L genes and its association with schizophrenia. American Journal of Human Genetics 73(5): 522

Booth, R.A.; Wong, B.Y.L.; Scillitani, A.; Shuen, A.; Fu, L.; Wei, C.; Hendy, G.N.; Cole, D.E.C. 2003: Mutation screening of the calcium-sensing receptor gene by denaturing HPLC in the diagnosis of inherited disorders of parathyroid hormone metabolism. American Journal of Human Genetics 73(5): 402

Plasilova, M.; Ferakova, E.; Kadasi, L.; Matusek, J.; Shanawani, M.; Ferak, V. 2000: Mutation screening of the cytochrome P4501B1 gene in patients with primary congenital glaucoma. European Journal of Human Genetics 8(Suppl 1): 156-157

Song, G.J.; Lee, H.S.; Park, Y.S.; Lee, C.C.; Lee, Y.S.; Kang, I.S. 2000: Mutation screening of the follicle stimulating hormone receptor gene in Korean infertile men with spermatogenic defects and hypergonadotropic hypogonadism. American Journal of Human Genetics 67(4 Suppl 2): 174

Norton, N.; Williams, H.J.; Williams, N.M.; Spurlock, G.; Preece, A.; Zammit, S.; Jones, G.; Jones, S.; Owen, R.; O'donovan, M.C.; Owen, M.J. 2002: Mutation screening of the homer gene family and association with schizophrenia. American Journal of Medical Genetics 114(7): 864

Iwata, N.; Suzuki, T.; Kitajima, T.; Yamanouchi, Y.; Ikeda, M.; Nishiyama, T.; Abe, T.; Ozaki, N. 2002: Mutation screening of the human 5-HT4 receptor gene in Japanese schizophrenia. American Journal of Medical Genetics 114(7): 800

Cobilanschi, J.; Rebstock, J.; Elger, C.E.; Propping, P.; Heils, A. 2002: Mutation screening of the human P/Q-type calcium channel gene CACNA1A in common forms of idiopathic generalized epilepsy. Epilepsia 43(Suppl 7): 279

Iwata, N.; Suzuki, T.; Kitajima, T.; Yamanouchi, Y.; Ikeda, M.; Inada, T.; Ozaki, N. 2003: Mutation screening of the human cannabinoid receptor 1 in Japanese schizophrenia. American Journal of Medical Genetics 122B(1): 113

Laguardia, E.A.; Gao, B.; Mccord, J.M. 2000: Mutation screening of the human manganese superoxide dismutase gene in lung cancer. Journal of Investigative Medicine 48(1): 16A

Fenech, A.G.; Wheatley, A.P.; Ebejer, M.J.; Felice, A.E.; Ellul Micallef, R.; Hall, I.P. 2001: Mutation screening of the human muscarinic M2 and M3 receptor genes in normal and asthmatic individuals. British Journal of Clinical Pharmacology 51(4): 390P-391P

Fenech, A.G.; Ebejer, M.J.; Felice, A.E.; Ellul Micallef, R.; Hall, I.P. 1999: Mutation screening of the human muscarinic M2 receptor gene in maltese asthmatic patients. British Journal of Pharmacology 128(Proceedings Suppl ): 121P

Kopal, T.; Corsico, A.; Huezo Diaz, P.; Mcguffin, P.; Aitchison, K. 2003: Mutation screening of the human norepinephrine transporter promoter. American Journal of Medical Genetics 122B(1): 119

Ohtsuki, T.; Arinami, T. 2002: Mutation screening of the metabotropic glutamate receptor mGluR7 gene in patients with schizophrenia. American Journal of Medical Genetics 114(7): 864-865

Biggin, A.; Henke, R.; Bennetts, B.; Thorburn, D.R.; Christodoulou, J. 2005: Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Molecular Genetics and Metabolism 84(1): 61-74

Nihalani, V.; Campbell, J.K.; Smith, B.; Shaw, C.; Abbs, S.J.; Renwick, P. 2003: Mutation screening of the spastin gene for autosomal dominant hereditary spastic paraplegia. Journal of Medical Genetics 40(Suppl 1): S78

Basel, D.; Homfrey, T.; Kilpatrick, M.W.; Tsipouras, P. 2002: Mutation screening of the split hand foot malformation by positional transcript analysis. American Journal of Human Genetics 71(4 Suppl): 443

Taylor, M.; Fain, P.; Carniel, E.; Di Lenarda, A.; Sinagra, G.; Boucek, M.; Ku, L.; Graw, S.; Feiger, J.; Slavov, D.; Zhu, X.; Dao, D.; Feguson, D.; Mestroni, L. 2003: Mutation screening of the thymopoietin gene in dilated cardiomyopathy. American Journal of Human Genetics 73(5): 554

Maheshwari, M.; Gershon, E.S.; Christian, S.L.; Gibbs, R.A. 2001: Mutation screening of two candidate genes Human peptide transporter and human Glypican 5 in families affected with bipolar disorder. American Journal of Human Genetics 69(4 Suppl): 499

Maheshwari, M.; Christian, S.L.; Liu, C.; Badner, J.A.; Detera Wadleigh, S.; Gershon, E.S.; Gibbs, R.A. 2002: Mutation screening of two candidate genes from 13q32 in families affected with Bipolar disorder Human peptide transporter and human glypican5. BMC Genomics 3(30)

Payne, S.J.; Singh, H.; Frayling, I.; Robertson, M.E. 1999: Mutation screening service for the PTEN gene. Journal of Medical Genetics 36(Suppl 1): S87

Heath, S.; Lester, T.; Loughlin, S.; Cottrell, S.E.; Jones, A.M.; Gaspar, H.B.; Gilmour, K.; Katz, F.; Boxer, M. 1999: Mutation screening strategy for X-linked primary immunodeficiency disorders at Great Ormond Street Hospital. Journal of Medical Genetics 36(Suppl 1): S95

Norton, N.; Moskina, V.; Williams, M.N.; Preece, A.; Dwyer, S.; Wilkinson, J.C.; Clemence, M.; Bray, N.J.; Zammit, S. 2003: Mutation screening, association and interaction analyses of the neuregulin genes and their receptors in schizophrenia. American Journal of Medical Genetics 122B(1): 89

Frankel, W.N.; Taylor, L.; Beyer, B.; White, H.S.eve 2001: Mutation screens for mouse models with altered electroconvulsive threshold. Epilepsia 42(Suppl 7): 226

Shimizu, W.; Horie, M.; Ohno, S.; Yamaguchi, M.; Shimizu, M.; Washizuka, T.; Aizawa, Y.; Nakamura, K.; Ohe, T.; Miyamoto, Y.; Yoshimasa, Y.; Towbin, J.A.; Priori, S.G.; Kamakura, S. 2003: Mutation site specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in LQT1 form of congenital long QT syndrome Multi-Center Study in Japan. Circulation 108(17): IV34

Shaughnessy, T.D.; Ohe, T.; Landi, S.; Goto, S.; Franzen, R.; Demarini, D.M. 1999: Mutation spectra in Salmonella TA98, TA100, and TA104 of chlorinated butenoic acids related to MX that are present in chlorinated drinking water. Environmental and Molecular Mutagenesis 33(Suppl 33): 56

Mittelstaedt, R.A.; Chen, T.; Casciano, D.A.; Heflich, R.H. 1999: Mutation spectra induced by N-hydroxy-2-acetylaminofluorene in the lacI and Hprt genes of Big Blue rats. Environmental and Molecular Mutagenesis 33(Suppl 33): 45

Mehenni, H.; Rossier, C.; Chergui, R.; Richards, K.F.; Mota Vieira, L.; Leal, A.S.; Lerner, A.; Antonarakis, S.E. 2001: Mutation spectrum and genotype-phenotype analyses in Peutz-Jeghers syndrome. European Journal of Human Genetics 9(Suppl 1): P0038

Fukuda, T.; Matsuichi, T.; Morishita, R.; Yamashita, Y.; Ohmori, I.; Horiuchi, I.; Kuwajima, K.; Nitta, H.; Yamagata, H.; Kondo, I. 2001: Mutation spectrum and genotype-phenotype correlation of MECP2 in 100 Japanese patients with Rett syndrome. American Journal of Human Genetics 69(4 Suppl): 595

Suzuki, Y.; Li, X.; Yang, X.; Sakamoto, O.; Aoki, Y.; Hiratsuka, M.; Inui, K.; Gibson, M.; Suormala, T.; Baumgartner, R.; Kure, S.; Matsubara, Y.; Narisawa, K. 2000: Mutation spectrum and haplotype analysis of holocarboxylase synthetase gene. American Journal of Human Genetics 67(4 Suppl 2): 291

Suzuki, Y.; Li, X.; Yang, X.; Sakamoto, O.; Aoki, Y.; Hiratsuka, M.; Inui, K.; Gibson, K.M.; Suormala, T.; Baumgartner, E.R.; Kure, S.; Matsubara, Y.; Narisawa, K. 2000: Mutation spectrum and haplotype analysis of the holocarboxylase synthetase gene. Journal of Inherited Metabolic Disease 23(Suppl 1): 93

Tullio Pelet, A.; Trochet, D.; Begeot, F.; Munnich, A.; Lyonnet, S. 2003: Mutation spectrum at the ALADIN locus in Allgrove syndrome Founder mutation and neurodegenerative phenotypes. American Journal of Human Genetics 73(5): 563

Hewitt, C.A.; Toomes, C.; Wu, C.L.; Wood, J.; Mccormick, D.; James, J.; Sloan, P.; Dixon, M.; Read, A.P.; Thakker, N.S. 2001: Mutation spectrum in Papillon-Lefevre syndrome. European Journal of Human Genetics 9(Suppl 1): P1460

Nielsen, J.B.; Ravn, K.; Schwartz, M. 2002: Mutation spectrum in Rett syndrome in Denmark. European Journal of Human Genetics 10(Suppl 1): 229

Hara, T.; Sui, H.; Kawakami, K.; Shimada, Y.; Shibuya, T. 2001: Mutation spectrum in cII mutants induced by ENU after partial hepatectomy in the Muta Mouse liver. Mutation Research 483(Suppl 1): S127-S128, 20 October

Regitz Zagrosek, V.; Erdmann, J.; Tanis, N.; Senyuva, M.; Werner, U.; Raible, J.; Kotsch, K.; Elsner, A.; Hummel, M.; Hetzer, R. 2001: Mutation spectrum in six disease genes in a large cohort of index patients with hypertrophic cardiomyopathy. Circulation 104(17): 2; 21

Pinson, L.; Auge, J.; Audollent, S.; Mattei, G.; Gigarel, N.; Munnich, A.; Lyonnet, S.; Vekemans, M.; Attie Bitach, T. 2002: Mutation spectrum in the Opitz syndrome gene , its expression during human development and X inactivation pattern in severely affected females. American Journal of Human Genetics 71(4 Suppl): 314

Wadelius, C.; Bakall, B.; Ingvast, S.; Marknell, T.; Petrukhin, K. 1999: Mutation spectrum in the gene for Best macular dystrophy. IOVS Investigative Ophthalmology and Visual Science 40(4): S775

Yasui, M.; Matsui, S.; Santosh, L.Y.R.; Suzuki, N.; Matsuda, T.; Shibutani, S. 2003: Mutation spectrum induced by 4-hydroxyequilin in supF gene of shuttle vector plasmid propagated in human fibroblast cells. Proceedings of the American Association for Cancer Research Annual Meeting 44: 180

Natsume, T.; Munakata, N.; Konishi, T.; Takeyasu, A.; Koyama, I.; Matsumoto, K.; Yasuda, N.; Satou, Y.; Furusawa, Y.; Hieda, K. 2003: Mutation spectrum of Bacillus subtilis spore irradiated with heavy ion near the Bragg peak. Journal of Radiation Research 44(4): 438

Milic, A.; Piluso, G.; Ventriglia, V.; Damico, F.; Kovac, B.; Trlaja, A.; Mitrovic, Z.; Zurak, N.; Politano, L.; Canki Klain, N. 2002: Mutation spectrum of CAPN3 gene in LGMD2A patients in Croatia. European Journal of Human Genetics 10(Suppl 1): 181-182

Sakamoto, O.; Yang, X.; Ohura, T.; Matsubara, Y.; IInuma, K. 2003: Mutation spectrum of PCCA and PCCB genes in Japanese patients with propionic acidemia. Journal of Inherited Metabolic Disease 26(Suppl 2): 54

Sahebjam, S.; Kouchakian, N.; Arzhangi, S.; Daneshmandan, M.; Javan, M.; Cucci, B.; Menezes, M.; Smith, R.; Najmabadi, H. 2001: Mutation spectrum of connexin 26 in Iranian patients with autosomal recessive non-syndromic sensorineural hearing loss. European Journal of Human Genetics 9(Suppl 1): P0934

Croke, D.; O'donnell, K.A.; O'neill, C.; Tighe, O.; Naughten, E.; Mayne, P.D. 2000: Mutation spectrum of hyperphenylalaninaemia and genotype-phenotype correlations in the Irish population. Journal of Medical Genetics 37(Suppl 1): S75

Briggs, C.E.; Rosenfeld, P.J.; Berson, E.L.; Dryja, T.P. 1999: Mutation spectrum of the ABCR gene in 124 unrelated patients with stargardt macular degeneration. IOVS Investigative Ophthalmology and Visual Science 40(4): S575

Bergman, A.; Engwall, Y.; Lundberg, J.; Martinsson, T.; Einbeigi, Z.; Karlsson, P.; Wallgren, A.; Wahlstrom, J.; Nordling, M. 2003: Mutation spectrum of the BRCA1 and BRCA2 genes in western Sweden. American Journal of Human Genetics 73(5): 232

Schaefer, E.; Gal, A.; Fabry Outcome Survey (Fos) Centres 2003: Mutation spectrum of the gene for alpha-galactosidase A in Fabry disease. Acta Paediatrica 92(Suppl 443): 107

Roepke, A.; Kujat, A.; Graeber, M.; Hansmann, I.; Giannakudis, J. 2000: Mutation spectrum within the human JAG1 gene in Alagille syndrome. American Journal of Human Genetics 67(4 Suppl 2): 379

Rezale, T.; Child, A.; Ritch, R.; Krupin, T.; Liebmann, J.; Ilitchev, E.; Sarfarazi, M. 2003: Mutation studies and ocular localization of optineurin protein in primary open angle glaucoma. American Journal of Human Genetics 73(5): 353

Caridi, G.; Pirulli, D.; Scolari, F.; Dagnino, M.; Amoroso, A.; Gusmano, R.; Ghiggeri, G.M.; Casari, G. 2000: Mutation studies on UMOD and SAH genes in a large pedigree with Autosomal Dominant Medullary Cystic Kidney Disease type 2. Journal of the American Society of Nephrology 11(Program and Abstract Issue): 404A

Tanaka, Y.ki; Ozawa, Tetsuo; Yokota, Sadaki; Imanaka, Tsuneo 2003: Mutation study of antithrombin The role of disulfide bonds for the biogenesis of Russell body like structures in CHO cells overexpressing mutant type antithrombin. Cell Structure and Function 28(4): 293

Petit, C.; Denoyelle Gryson, F.CedillaOise; Weil, D.; Marlin Duvernois, S.; Guesdon, J.L.c 2002: Mutation within the connexin 26 gene responsible for prelingual non-syndromic deafness and method of detection. Official Gazette of the United States Patent and Trademark Office Patents 1264(4)

Platt, A. 2002: Mutation, methylation, mismatch, and man Exploring the human mutome. American Journal of Human Genetics 71(4 Suppl): 397

Erdmann, J.; Raible, J.; Maki Abadi, J.; Regitz Zagrosek, V.; Kallisch, H. 2001: Mutation-analysis in the MYBPC3 gene Identification of severe phenotypes in patients with protein truncations and evidence of founder mutations. European Heart Journal 22(Abstract Suppl): 635

Wehrens, X.H.; Abriel, H.; Wattanasirichaigoon, D.; Beggs, A.H.; Memmi, M.; Priori, S.G.; Kass, R.S. 1999: Mutation-dependent regulation of human cardiac Na+ channels by sympathetic stimulation in long QT and Brugada syndromes. Circulation 100(18): 1; 496

Mcmahon, H.P.; Allen, D.; Humphries, P.; Kenna, P.F.; Millington Ward, S.; Farrar, G.J. 2003: Mutation-independent gene therapy strategy for Osteogenesis Imperfecta. American Journal of Human Genetics 73(5): 622

O'neill, B.G.; O'reilly, M.; Millington Ward, S.; Tuohy, G.; Kenna, P.F.; Humphries, P.; Farrar, J. 2001: Mutation-independent ribozyme-based therapies for Retinitis Pigmentosa. American Journal of Human Genetics 69(4 Suppl): 677

Farrar, G.J.; Millington Ward, S.; Allers, C.; Conget, P.; Kenna, P.F.; Humphries, P. 2001: Mutation-independent therapeutic strategies for Osteogenesis imperfecta. American Journal of Human Genetics 69(4 Suppl): 675

Prochniewicz, E.; Thomas, D.D. 2000: Mutation-induced changes in structural dynamics of yeast actin correlate with changes in functional interactions with myosin. Biophysical Journal 78(1 Part 2): 239A

Klein, C.; Kabakci, K.; Hedrich, K.; Mohrmann, K.; Wiegers, K.; Schwinger, E.; Pramstaller, P.; Gucuyener, K.; Aysun, S.; Demir, E.; Ozelius, L. 2002: Mutation-negative cases of dopa-responsive dystonia may be caused by exon deletions in the GTP cyclohydrolase I gene. Neurology 58(7 Suppl 3): A34

Neckelmann, N. 2001: Mutation Discoverycom A mutation database and resource for methods and applications for the DHPLC community. Human Mutation 17(4): 337-338

Minoshima, S.; Ohtsubo, M.; Mitsuyama, S.; Ohno, S.; Kawamura, T.; Ito, S.; Ito, F.; Shimizu, N. 2002: Mutation View A graphical on-line database system for mutations and polymorphisms in human disease genes. American Journal of Human Genetics 71(4 Suppl): 514

Ohtsubo, M.; Mitsuyama, S.; Kawamura, T.; Minoshima, S.; Shimizu, N. 2003: Mutation View Addition of automatic extraction system for disease-associated knowledge. American Journal of Human Genetics 73(5): 560

Hashemi, M.B.; Inbal, A.; Peake, I.R.; Mikris, M.; Hampton, E.; Goodeve, A.C. 2002: Mutational Analysis in Five Families with Type 1 Von Willebrand Disease. Blood 100(11): Abstract No. 3749

Mailman, M.D.; Alam, K.Y.; Burghes, A.H.M.; Prior, T.W. 1999: Mutational Analysis of the SMN-associated genes SmN and SIP1. American Journal of Human Genetics 65(4): A477

Saito, M.; Maruyama, M.; Ikeuchi, T.; Kondo, H.; Yuasa, T.; Ishikawa, A.; Tsuji, S. 1999: Mutational analyses and comparison of clinical phenotypes of six families with autosomal recessive juvenile parkinsonism. American Journal of Human Genetics 65(4): A489

Maneval, M.L.; Eckert, K.A. 2002: Mutational analyses of a 9 microsatellite in human lymphoblastoid cells following treatment with hydrogen peroxide and N-ethyl-N-nitrosurea. Environmental and Molecular Mutagenesis 39(Suppl 33): 41

Kadlecova, J.; Ravcukova, B.; Valaskova, I.; Gaillyova, R.; Novotny, T.; Semrad, B. 2002: Mutational analyses of potassium channel gene KVLQT1 and identification of a novel long-QT syndrome mutation. European Journal of Human Genetics 10(Suppl 1): 190

Kojouharova, M.; Gadjeva, M.; Tsacheva, I.; Zlatarova, A.; Roumenina, L.; Reid, K.B.M.; Kishore, U. 2002: Mutational analyses of recombinant globular head regions suggest central role for arginine and histidine residues in C1q-immunoglobulin interactions. International Immunopharmacology 2(9): 1282

Korosec, B.; Caserman, S.; Bergant, D.; Ravnik Glavac, M.; Glavac, D. 2001: Mutational analyses of the RET proto-oncogene in Slovenian MEN2 families. European Journal of Human Genetics 9(Suppl 1): P0034

Yamashita, T.; Kai, T.; Terakita, A.; Shichida, Y. 2003: Mutational analyses of the cytoplasmic domain of metabotropic glutamate receptor. Zoological Science (Tokyo) 20(12): 1590

Nagashima, K.V.P.; Nagashima, S.; Matsuura, K.; Shimada, K. 2001: Mutational analyses of two unique genes contained in the puf operon of the purple bacterium, Rubrivivax gelatinosus. Photosynthesis Research 69(1-3): 48

Mollenhauer, J.; Helmke, B.; Mueller, H.; Kollender, G.; Herbertz, S.; Krebs, I.; Wiemann, S.; Holmskov, U.; Madsen, J.; Otto, H.F.; Poustka, A. 2001: Mutational analysis and characterization of DMBT1 A versatile molecular fly-paper. International Journal of Molecular Medicine 8(Suppl 1): S9

Pilozzi, E.; Onelli, M.R.; Fidler, C.; Ziparo, V.; Wainscoat, J.S.; Ruco, L. 2003: Mutational analysis and expression of CDX1 homeobox gene in 20 cases of colorectal carcinomas. Virchows Archiv 443(3): 386

Liu, L.; De Carvalho Aguiar, P.; Saunders Pullman, R.; Klein, C.; Bressman, S.; Ozelius, L. 2002: Mutational analysis and identification of differential methylation patterns in the SGCE gene in patients with myoclonus dystonia. American Journal of Human Genetics 71(4 Suppl): 519

Downes, S.M.; Payne, A.M.; Kapsali, J.; Holder, G.E.; Fitzke, F.W.; Bhattacharya, S.S.; Bird, A.C. 2000: Mutational analysis and phenotype characterisation in Best vitelliform dystrophy. IOVS Investigative Ophthalmology and Visual Science 41(4): S886

Lesage, S.; Zouali, H.; Czard, J.P.; Belaiche, J.; Almer, S.; Tysk, C.; O'morain, C.A.; Gassul, M.; Modigliani, R.; Colombel, J.F.; Merlin, F.; Chamaillard, M.; Thomas, G.; Hugot, J.P. 2001: Mutational analysis and phenotype-genotype correlation of the NOD2 gene in Crohn disease. American Journal of Human Genetics 69(4 Suppl): 642

Satoh, H.; Okada, T.; Shiono, Y.; Sawada, T.; Azuma, T.; Takeda, Y.; Tatsumi, Y.; Kitoh, C.; Mabuchi, H. 1999: Mutational analysis for a family with Alagille syndrome. Gastroenterology 116(4 Part 2): A1272

Dhir, R.; Bastacky, S.I.; Minhas, F.; Xiaomin, M.; Eizaburo, S.; Patricia, S.; Finkelstein, S. 2002: Mutational analysis for loss of heterozygosity of testicular germ cell tumors. Laboratory Investigation 82(1): 160A-161A

Bissar Tadmouri, N.; Parman, Y.; Boutrand, L.; Deymeer, F.; Serdaroglu, P.; Vandenberghe, A.; Battaloglu, E. 2000: Mutational analysis in Charcot-Marie-tooth type 1 and HNPP patients of Turkish origin. European Journal of Human Genetics 8(Suppl 1): 49

Christie, P.T.; Curley, A.; Nesbit, M.A.; Chapman, C.; Genet, S.; Harper, P.S.; Keeling, S.L.; Wilkie, A.O.M.; Winter, R.; Thakker, R.V. 2000: Mutational analysis in X-linked Spondyloepiphyseal Dysplasia Tarda. Journal of Bone and Mineral Research 15(Suppl 1): S167

Hedrich, K.; Harris, J.; Kann, M.; Lynch, T.; Santana, H.M.; Schwinger, E.; Pramstaller, P.P.; Bressman, S.B.; Fahn, S.; Marder, K.; Klein, C. 2001: Mutational analysis in early-onset parkinsonism including gene dosage studies. American Journal of Human Genetics 69(4 Suppl): 598

Hoefele, J.; Sudbrak, R.; Otto, E.; Imm, A.; O'toole, J.; Hildebrandt, F. 2003: Mutational analysis in nephronopthisis type 4. Journal of the American Society of Nephrology 14(Abstracts Issue): 359A

Dharmaraj, S.; Silva, E.; Li, Y.Y.; Loyer, M.; Koenekoop, R.K.; Maumenee, I.H. 1999: Mutational analysis in one hundred consecutive patients with Leber congenital amaurosis. IOVS Investigative Ophthalmology and Visual Science 40(4): S565

Turner, J.J.O.; Pannett, A.A.J.; Wooding, C.; Christie, P.T.; Bassett, J.H.D.; Thakker, R.V. 1999: Mutational analysis in patients with multiple endocrine neoplasia type 1. Journal of Endocrinology 160(Suppl ): P62

Karle, S.M.; Uetz, B.; Kroiss, S.; Puetz, M.; Hildebrandt, F.; Fuchshuber, A.; Members, O.T.e Apn 2001: Mutational analysis in patients with steroid-resistent idiopathic nephrotic syndrome. Journal of the American Society of Nephrology 12(Program and Abstract Issue): 554A-555A

Busquets, C.; Ribes, A.; Rodes, M.; Vilaseca, M.A.; Briones, P. 2002: Mutational analysis in the PDH E1alpha gene in patients with a suspected pyruvate dehydrogenase complex deficiency. Journal of Inherited Metabolic Disease 25(Suppl 1): 91

Green, E.K.; Elvidge, G.; Jones, I.; Owen, M.J.; Craddock, N. 2001: Mutational analysis of 2 positional candidate susceptibility genes for bipolar disorder PAH and LHX5. American Journal of Medical Genetics 105(7): 610-611

Sikora, J.; Pereira, H.; Elleder, M.; Wevers, R. 2001: Mutational analysis of 24 Niemann-Pick type A and B patients 20 Novel mutations. European Journal of Human Genetics 9(Suppl 1): P1193

Vouk, K.; Strmecki, L.; Liovic, M.; Kopriva, S.; Micetic-Turk, D.; Komel, R. 2000: Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra. Pflugers Archiv: European Journal of Physiology 439(3 Suppl): R63-R65

Braunstein, S.L. 1999: Mutational analysis of 7-dehydrocholesterol reductase in holoprosencephaly patients. Journal of Investigative Medicine 47(2): 23A

Mango, R.; Guarino, S.; D'apice, R.; Amati, F.; Sangiuolo, F.; Pozzilli, P.; Bottazzo, G.; Crino, A.; Buzzetti, R.; Novelli, G. 2001: Mutational analysis of AIRE gene in APS2 patients. American Journal of Human Genetics 69(4 Suppl): 580

Abbaszadegan, M.R.; Asadzadeh, H.R.; Pazouki, N.; Ghafarzadegan, K.; Jami Ahmadi, K.; Houshmand, M.; Zali, M.R. 2001: Mutational analysis of APC gene, immunoreactivity of p53, and E-cadherin protein in gastric adenocarcinoma. American Journal of Human Genetics 69(4 Suppl): 262

Shirazi, H.A.; Bayat, B.; Aleyasin, S.A.; Farhoodi, A.; Moin, M.; Sanati, M.H. 2003: Mutational analysis of ATM gene in Iranian patients with ataxia telangiectasia. American Journal of Human Genetics 73(5): 412

Futai, M.; Omote, H. 1999: Mutational analysis of ATP synthase An approach to catalysis and energy coupling. Papa, S , Guerrieri, F , Tager, J M Frontiers of cellular bioenergetics: Molecular biology, biochemistry, and physiopathology 399-421

Liu, X.; Zhang, Y.F.; Chen, R.G.; Gu, X.F. 2000: Mutational analysis of ATP7B gene in Chinese patients with Wilson disease. American Journal of Human Genetics 67(4 Suppl 2): 295

Guo, X-Hong.; Deng, K-Qin.; Wang, J.; Yu, D-Shi.; Zhao, Q.; Liu, X-Ming. 2010: Mutational analysis of Arabidopsis PP2CA2 involved in abscisic acid signal transduction. Molecular biology reports 37(2): 763-769

Raicevic, L.; Papp, J.; Dimitrijevic, B.; Milasin, J.; Olah, E. 1999: Mutational analysis of BRCA1 and BRCA2 genes in 12 Yugoslav breast/ovarian cancer families. European Journal of Human Genetics 7(Suppl 1): 91

Balraj, P.; Khoo, A.S.B.; Choy, Y.S.; Tan, S.K.; Tan, J.A.M.A.; Abdullah, H.; Yip, C.H. 2001: Mutational analysis of BRCA1 in familial breast cancer in Malaysia. American Journal of Human Genetics 69(4 Suppl): 437

Oliver, D.C.; Huang, G.; Fernandez, R.C. 2000: Mutational analysis of BrkA, a Bordetella pertussis virulence factor involved in serum resistance. Abstracts of the General Meeting of the American Society for Microbiology 100: 48

Zouali, H.; Lesage, S.; Merlin, F.; Chamaillard, M.; Cezard, J.; Belaiche, J.; Almer, S.; Tysk, C.; O'morain, C.; Gassull, M.; Binder, V.; Finkel, Y.; Modigliani, R.; Gower Rousseau, C.; Colombel, J.; Thomas, G.; Hugot, J. 2002: Mutational analysis of CARD4/NOD1 gene and Inflammatory Bowel Disease. European Journal of Human Genetics 10(Suppl 1): 82

Adebanjo, O.A.; Li, S.; Moonga, B.S.; Epstein, S.; Kumegawa, M.; Zaidi, M.; Koval, A. 1999: Mutational analysis of CD38 reveals multiple mechanisms of cyclic ADP-ribose-mediated Ca2+ release. Journal of Bone and Mineral Research 14(Suppl 1): S488

Shivers, R.M.; Bell, J.B. 2002: Mutational analysis of CoCl2 during in vitro DNA synthesis by E coli DNA polymerase I. FASEB Journal 16(4): A533

Xiao, J.; Tang, B.; Xia, J.; Xie, G.; Luo, W. 2001: Mutational analysis of Cx32, MPZ, PMP22 and NEFL genes in 32 Chinese families with Charcot-Marie-Tooth disease. American Journal of Human Genetics 69(4 Suppl): 602

Caloustian, C.; Ottolenghi, C.; Berkovitz, G.; Mcelreavey, K. 2001: Mutational analysis of DM domain genes in the region on 9p associated with 46,XY gonadal dysgenesis. American Journal of Human Genetics 69(4 Suppl): 619

Hestermann, A.; Schliwa, M.; Graef, R. 2001: Mutational analysis of DdCP224 discloses the C-terminal centrosome-binding domain and an encrypted microtubule-binding and bundling activity. Cell Biology International 25(2): A17

Ho, G.H.; Calvano, J.E.; Borgen, P.I.; Van Zee, K.J. 1999: Mutational analysis of E2F-4 trinucleotide repeats in breast carcinoma. Proceedings of the American Association for Cancer Research Annual Meeting 40: 268

Kibel, A.S.; Faith, D.; Nelson, J.B.; Bova, G.S.; Isaacs, W.B. 2000: Mutational analysis of ETV6/tel in prostate carcinoma. Proceedings of the American Association for Cancer Research Annual Meeting 41: 778

Crawford, B.E.; Seltzer, R.; Esko, J.D. 2001: Mutational analysis of EXT-1, an essential enzyme for heparan sulfate polymerization. Glycobiology 11(10): 920

Sand, O.L.; Hall, C.; Trun, N.J. 2000: Mutational analysis of Escherichia coli cspE protein. Abstracts of the General Meeting of the American Society for Microbiology 100: 350

Ruiz Velasco, V.; Ikeda, S.R. 1999: Mutational analysis of G-protein betagamma subunit interactions with N-type calcium channels in rat superior cervical ganglion neurons. Society for Neuroscience Abstracts 25(1-2): 2250

Rohlfs, E.M.; Zariwala, M.; Booker, J.K.; Roche, M.I.; Powell, C.M.; Silverman, L.M.; Shores, C.G. 2000: Mutational analysis of GJB2 in an unselected deaf population. American Journal of Human Genetics 67(4 Suppl 2): 405

Mantovani, G.; Romoli, R.; Weber, G.; Brunelli, V.; De Menis, E.; Spada, A. 2000: Mutational analysis of GNAS1 in patients with Albrights hereditary osteodistrophy Identification of two novel mutations. Journal of Endocrinological Investigation 23(6 Suppl): 23

Gallart, L.; Gutierrez, C.; Fernandez Real, J.M.; Simon, I.; Vendrell, J.; Richart, C. 2002: Mutational analysis of IL-6 and IL-10 promoter regions Association of the IL-6 C-174G SNP with susceptibility to type 2 Diabetes. Diabetologia 45(Suppl 2): A 120-A 121

Cocco, R.R.; Jarvinen, K.M.; Han, N.; Chatchatee, P.; Sampson, H.A.; Beyer, K. 2003: Mutational analysis of IgE-binding epitopes of the major cows milk allergen beta-casein showed a heterogenous pattern of critical amino acids between individual patients and pooled sera. Journal of Allergy and Clinical Immunology 111(2 Abstract Suppl): S351

Hatta, Y.; Arima, N.; Takeuchi, J.; Sawada, U.; Horie, T. 2003: Mutational analysis of IkBalpha in hematological malignancies. Blood 102(11): 197b

Tamai, K.; Zeng, X.; He, X. 2003: Mutational analysis of LRP6 in Wnt signal transduction. Developmental Biology 259(2): 461-462

Clausen, J.D.; Andersen, J.P. 2003: Mutational analysis of Lys252 and its interaction with loop 6-7 in the SR Ca2+-ATPase. Annals of the new York Academy of Sciences 986: 335-337

Dubern, B.; Lacorte, J.M.; Basdevant, A.; Chambaz, J.; Girardet, J.P.; Tounian, P.; Clement, K. 2003: Mutational analysis of MC4R gene in a large cohort of obese patients. International Journal of Obesity 27(Suppl 1): S12

Dubern, B.; Tounian, P.; Pelloux, V.; Froguel, P.; Girardet, J.P.; Guy Grand, B.; Clement, K. 2001: Mutational analysis of MC4R, AGRP and alphaMSH genes in French severely obese children. International Journal of Obesity 25(Suppl 2): S5

Correia, J.D.S.lva; Ulevitch, R.J. 2002: Mutational analysis of MD-2 and TLR4. Journal of Endotoxin Research 8(3): 173

Van Den Veyver, I.B.; Amir, R.E.; Schultz, R.; Tran, C.Q.; Glaze, D.G.; Zoghbi, H.Y. 2000: Mutational analysis of MECP2 in classic Rett syndrome An update and analysis of expression of truncating alleles. American Journal of Human Genetics 67(4 Suppl 2): 54

Papp, T.; Pemsel, H.; Rahman, Q.; Dopp, E.; Weiss, D.G.; Schiffmann, D.; Mueller, K.M.chael 1999: Mutational analysis of N-ras, CDK4, p53, p16INK4a and p19ARF in human mesotheliomas. European Journal of Cell Biology 78(Suppl 49): 99

Yang, Z.; O'reilly, R.; Singh, S.M. 2003: Mutational analysis of PRODH gene of 22q11 region in patients with schizophrenia. American Journal of Medical Genetics 122B(1): 164

Giardina, E.; Capon, F.; Sciacchitano, S.; Bruno, R.; Tassi, V.; Trischitta, V.; Filetti, S.; Dallapiccola, B.; Novelli, G. 2001: Mutational analysis of Peroxiredoxin IV Exclusion of a positional candidate for multinodular goiter. American Journal of Human Genetics 69(4 Suppl): 591

Carling, T.; Imanishi, Y.; Gaz, R.D.; Arnold, A. 1999: Mutational analysis of RAD51 and RAD54, candidate tumor suppressor genes in locations of allelic loss in parathyroid adenomas. Proceedings of the American Association for Cancer Research Annual Meeting 40: 382-383

Huff, J.T.; Angus Hill, M.L.; Cairns, B.R. 2002: Mutational analysis of Rsc3 and Rsc30, subunits implicated in RSC targeting and regulation. FASEB Journal 16(4): A151

Carra, J.H.; Schokman, R.D.; Welcher, B.; Bavari, S.; Ulrich, R. 2001: Mutational analysis of SPEA superantigen. FASEB Journal 15(5): A1174

Yoshihisa, T.; Ohshima, C.; Ogasawara, C.; Nakanishi, K.; Endo, T. 2002: Mutational analysis of Sen2p and Sen54p, subunits of tRNA splicing endonuclease in yeast. Cell Structure and Function 27(4): 292

Nowell, A.; Hernandez, R.; Sinodis, C.; Horton, S.; Nelson, S. 2003: Mutational analysis of Sindbis virus E2 transmembrane domain and its effect on virus infectivity. Abstracts of Papers American Chemical Society 225(1-2): PRES 38

Bhattacharyya, N.; Banerjee, S. 1999: Mutational analysis of TGFbetaIIR and IGFIIR genes in prostate tumors. Proceedings of the American Association for Cancer Research Annual Meeting 40: 100

Amin, M.; Barnabas, N.; De Peralta Venturina, M.; Pindolia, K.; Nanavati, R.; Tamboli, P.; Amin, M.E.; Worsham, M. 2000: Mutational analysis of Von-Hippel Lindau gene in adult renal epithelial neoplasms with abundant granular cytoplasm. Laboratory Investigation 80(1): 92A

Moreno Bueno, G.; Sarrio, D.; Sanchez Estevez, C.; Garcia Rostan, G.; Hardisson, D.; Palacios, J. 2002: Mutational analysis of Wnt signalling in endometrial carcinoma. Proceedings of the American Association for Cancer Research Annual Meeting 43: 992

Xu, H.; Hoover, T. 1999: Mutational analysis of a RNA polymerase contact site on the sigma 54-dependent activator DctD. Abstracts of the General Meeting of the American Society for Microbiology 99: 443

Lewis, R.A.; Abboud, E.B.; Al Rajhl, A.; Leppert, M.; Lupski, J.R.; Stockton, D.W. 1999: Mutational analysis of a cohort Leber Congenital Amaurosis families. American Journal of Human Genetics 65(4): A109

Rao, C.M.; Kumar, L.V.S.; Ramakrishna, T. 2001: Mutational analysis of a conserved arginine residue in human alphaB crystallin. IOVS Investigative Ophthalmology and Visual Science 42(4): S292

Maccoll, G.; Robertson, A.; Jarvis, S.; Perkins, S.; Bouloux, P. 2000: Mutational analysis of anosmin-1 function based on molecular modelling of the fibronectin type III domains. Journal of Endocrinology 167(Suppl): OC12

Lim, M.; Kunkel, B.N. 2002: Mutational analysis of avrRpt2, a Pseudomonas syringae gene involved in avirulence and virulence on Arabidopsis thaliana. Plant Biology (Rockville) : 10

Lim, M.; Kunkel, B.N. 2002: Mutational analysis of avrRpt2, a Pseudomonas syringae gene involved in virulence and avirulence on Arabidopsis thaliana. Plant Biology (Rockville) : 130

Risinger, J.I.; Barrett, J.C.; Taylor, J.A. 1999: Mutational analysis of beta-catenin exon 3 in human bladder carcinoma. Proceedings of the American Association for Cancer Research Annual Meeting 40: 277

Güleşken, S.; Oren, H.; Vergin, C.; Sanli, N.; Gülen, H.; Uçar, C.; Irken, G. 2000: Mutational analysis of beta-thalassemia cases from the Aegean region of Turkey using an allele-specific oligonucleotide hybridization technique. Acta Haematologica 104(4): 181-184

Wang, J.; Whitman, M.C.; Natarajan, K.; Tormo, J.; Mariuzza, R.A.; Margulies, D.H. 2001: Mutational analysis of binding of the NK inhibitory receptor Ly49A to its H-2Dd ligand Evidence for both local and global effects on Ly49A structure. FASEB Journal 15(4): A321

Emmert, E.A.B.; Handelsman, J. 1999: Mutational analysis of biosynthesis of zwittermicin A, a novel antibiotic produced by Bacillus cereus. Abstracts of the General Meeting of the American Society for Microbiology 99: 2

Patel, R.; Goldblum, J.R.; Antonescu, C.R. 2003: Mutational analysis of c-kit in extragastrointestinal stromal tumors A molecular study of six cases. Modern Pathology 16(1): 18A-19A

Cleton Jansen, A.M.; Moerland, E.W.; Van Beerendonk, H.M.; Savoia, A.; Callen, D.F.; Van Ommen, G.J.B.; Cornelisse, C.J. 1999: Mutational analysis of candidate breast tumour suppressor genes located at 16q243. American Journal of Human Genetics 65(4): A122

Van Den Veyver, I.B.; Garcia, J.; Aradhya, S.; Bacino, C.; Zoghbi, H.Y. 2001: Mutational analysis of candidate genes for terminal osseous dysplasia with pigmentary defects. Genetics in Medicine 3(3): 272

Bramkamp, M.; Altendorf, K. 2003: Mutational analysis of charged residues in the putative KdpB-TM5 domain of the Kdp-ATPase of Escherichia coli. Annals of the new York Academy of Sciences 986: 351-353

Shuster, J.E.; Stepaniak, J.A.; Hu, W.; Sundick, R.S. 1999: Mutational analysis of chicken IL-2. FASEB Journal 13(5 Part 2): A1142

Lagarde, A.; Stern, H. 1999: Mutational analysis of colorectal tumors within and in the vicinity of the APC gene lleu1307 colon. Proceedings of the American Association for Cancer Research Annual Meeting 40: 465-466

Costa, J.; Shattuck, T.M.; Arnold, A. 2001: Mutational analysis of connexin 26 as a candidate tumor suppressor gene in parathyroid carcinoma. Journal of Bone and Mineral Research 16(Suppl 1): S242

Knoebber, A.E.; Martin, K.L.; Dutch, R.E. 2003: Mutational analysis of conserved regions in paramyxovirus fusion proteins. FASEB Journal 17(4-5): Abstract 847

Hirasawa, K.I.; Amano, T.; Shioi, Y. 2001: Mutational analysis of cryptogein. Plant and Cell Physiology 42(Suppl): s63

Hong, S.W.; Lee, U.; Vierling, E. 2002: Mutational analysis of cytosolic Hsp100/ClpB chaperones in Arabidopsis. Plant Biology (Rockville) : 146

Yeager, M.E.; Voelkel, N.F.; Tuder, R.M. 1999: Mutational analysis of endothelial cell TGF-beta receptor Type II in plexiform lesions of patients with primary pulmonary hypertension. Circulation 100(18): 1; 587

Wolff, N.A.; Grunwald, B.; Burckhardt, G. 1999: Mutational analysis of fROAT, the flounder renal organic anion transporter. Journal of the American Society of Nephrology 10(Program and Abstr. Issue): 59A-60A

Tanaka, T.; Nakamura, Y. 1999: Mutational analysis of familial long QT syndrome in Japan. Kurachi, Y, Jan, L Y, Lazdunski, M Current Topics in Membranes; Potassium ion channels: Molecular structure, function, and diseases 103-116

Chong, Y.an; Kent, Claudia 2003: Mutational analysis of functional conserved residues in choline kinase A2 from C elegans. FASEB Journal 17(4-5): Abstract 368

Abel, S.; Levy, M.; Grubb, D.; Wang, Q. 2002: Mutational analysis of glucosinolate biosynthesis in Arabidopsis thaliana. Plant Biology (Rockville) : 30

Lambrecht, N.; Munson, K.; Sachs, G.; Lee, A. 1999: Mutational analysis of glutamate 820 of the alpha subunit of the rabbit HK-ATPase. Gastroenterology 116(4 Part 2): A229

Kim, K.H.; Chang, H.Y.; Yoon, Y.J.; Park, S.J.; Park, Y.N.; Kim, S.I.; Han, K.H. 2002: Mutational analysis of hepatitis B virus from the sequential serum of the liver transplant recipient who were rapidly reinfected despite hepatitis B immune globulin prophylaxis and lamivudine therapy. Hepatology 36(4 Part 2): 617A

Hannan, J.; Young, K.; Szakonyi, G.; Asokan, R.; Chen, X.; Holers, V.M.chael 2002: Mutational analysis of human CR2/CD21 based on the determination of its x-ray crystallographic structure in complex with C3d. International Immunopharmacology 2(9): 1271-1272

Lambrechts, A.; Jonckheere, V.; Dewitte, D.; Vandekerckhove, J.; Ampe, C. 2002: Mutational analysis of human profilin I reveals a second PI -P2 binding site neighbouring the poly binding site. BMC Biochemistry 3(12)

Seo, J.-K.; Kang, S.-H.; Seo, B.Y.; Jung, J.K.; Kim, K.-H. 2010: Mutational analysis of interaction between coat protein and helper component-proteinase of Soybean mosaic virus involved in aphid transmission. Molecular Plant Pathology 11(2): 265-276

Charron, P.; Bouchier, C.; Dubosq Bidot, L.; Bonne, G.; Millaire, A.; Benaiche, A.; Schwartz, K.; Komajda, M. 2002: Mutational analysis of lamin A/C gene in dilated cardiomyopathy without conduction defect and without skeletal muscular dystrophy. European Heart Journal 23(Abstract Suppl): 394

Sawaya, R.; Ho, C.K.; Shuman, S. 2002: Mutational analysis of mammalian capping enzyme. FASEB Journal 16(4): A164

Zou, Z.; Connell, T.; Davis, L.D.; Moul, J.W.; Srivastava, S. 1999: Mutational analysis of maspin gene in prostate cancer cells. Journal of Urology 161(4 Suppl): 328

Kakinuma, H.; Kobayashi, A.; Ito, M.; Takahashi, H. 2003: Mutational analysis of methylmalonyl-CoA mutase gene in Japanese patients with methylmalonic aciduria. Journal of Inherited Metabolic Disease 26(Suppl 2): 49

Katsuki, M.; Uchimura, S.; Akagi, T.; Nikawa, J.; Hashikawa, T.; Muto, E. 2004: Mutational analysis of microtubules How do negative charges at the C-terminus of tubulin affect kinesin-motility?. Biophysical Journal 86(1): 410a

Woods, K.S.; Mccaffery, C.; Turton, J.P.G.; Dattani, M.T. 2003: Mutational analysis of multiple developmentally important genes in the human condition Septo-Optic Dysplasia. American Journal of Human Genetics 73(5): 430

Brown, J.T.; Comet, M.A.; Prince, R.J. 2001: Mutational analysis of neuronal nicotinic acetylcholine receptor agonist binding sites. British Journal of Pharmacology 133(Proceedings Suppl): 226P

Qiu, L.Y.; Koenderink, J.B.; Swarts, H.G.P.; Willems, P.H.G.M.; De Pont, J.J.H.H.M. 2003: Mutational analysis of ouabain interaction with the M5-M6 hairpin of Na,K-ATPase. Annals of the new York Academy of Sciences 986: 255-257

Papageorgiou, S.; Pappa, V.; Papageorgiou, E.; Kontsioti, F.; Economopoulos, T.; Kalantzis, D.; Valsami, S.; Dervenoulas, J.; Raptis, S. 2003: Mutational analysis of p16 and p27 genes in de novo myelodysplastic syndromes. Leukemia Research 27(Suppl 1): S28

Quintanilla Martinez, L.; Kremer, M.; Keller, G.; Meneses, A.; Gamboa Dominguez, A.; Cabras, A.D.; Mohar, A.; Fend, F. 2001: Mutational analysis of p53 in nasal NK/T-cell lymphoma from Mexico. Laboratory Investigation 81(1): 177A

Parton, M.; Howes, G.; Smith, I.; Humphreys, S.; Dowsett, M. 2002: Mutational analysis of p53 of primary breast cancer from fine needle aspiration; correlation with clinical outcome after neoadjuvant chemotherapy. British Journal of Cancer 86(Suppl 1): S37

Artemyev, N.O.; Granovsky, A.E. 2001: Mutational analysis of photoreceptor phosphodiesterase using PDE5/PDE6 chimeras. FASEB Journal 15(5): A1172

Samartzidou, H.; Xu, Z.; Benedik, M.J.; Delcour, A.H. 1999: Mutational analysis of porin inhibition by polyamines. Biophysical Journal 76(1 Part 2): A138

Elvidge, G.P.; Owen, M.J.; Craddock, N. 2000: Mutational analysis of purinergic receptor, P2X4 A positional candidate susceptibility gene for bipolar disorder. American Journal of Medical Genetics 96(4): 493