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Section 54

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References:

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Horn, M.M.; Paz, A.H.; Duarte, M.E.; Baldo, G.; Belardinelli, M.C.; Matte, U.; Lima, E.O.C.; Passos, E.P. 2008: Germinative testicular cells and bone marrow mononuclear cells transplanted to a rat model of testicular degeneration. Cloning and Stem Cells 10(4): 543-546
Takeuchi, S.; Takasato, Y. 2011: Germinoma. Journal of Neurosurgery. Pediatrics 7(4): 439; author reply 439
Xu, E.; Wang, X.; Hao, Z.; Chen, Z.; Lu, X. 2010: Germinoma in the basal ganglia with an abnormal karyotype: case report and review of the literature. Child's Nervous System: Chns: Official Journal of the International Society for Pediatric Neurosurgery 26(5): 707-712
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Wong, T.-T.; Chen, Y.W.; Guo, W.-Y.; Chang, K.-P.; Ho, D.M.; Yen, S.-H. 2008: Germinoma involving the basal ganglia in children. Child's Nervous System: Chns: Official Journal of the International Society for Pediatric Neurosurgery 24(1): 71-78
Mao, Q.; Ma, L.; Pang, Z.; Liu, J. 2012: Germinoma occurring 2 years after total resection of an intracranial epidermoid cyst in the pineal region. Journal of Neuro-Oncology 106(2): 437-439
Hao, S.; Liu, B.; Tang, J.; Jia, G.; Zhang, Y.; Ma, Z.; Wang, Z. 2009: Germinoma of basal ganglia in female: case report and review of the literature. Child's Nervous System: Chns: Official Journal of the International Society for Pediatric Neurosurgery 25(5): 613-617
Friedman, N.B. 1947: Germinoma of the pineal; its identity with germinoma (seminoma) of the testis. Cancer Research 7(6): 363-368
Lima, B.R.; Schoenfield, L.; Rychwalski, P.J. 2011: Germinoma presenting as a fourth cranial nerve palsy in a patient with adenomatous polyposis coli (APC) gene mutation. Journal of Aapos: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus 15(1): 71-73
Hieda, S.; Fukui, T. 2008: Germinoma presenting with personality and socio-behavioral abnormalities may challenge differential diagnoses. Brain and Nerve 60(8): 949-953
Bakoto, N.; Strivay, M. 2009: Germinoma responsible for central diabetes insipidus. Revue Medicale de Liege 64(7-8): 386-389
Loto, M.G.; Danilowicz, K.; González Abbati, S.; Torino, R.; Misiunas, A. 2014: Germinoma with involvement of midline and off-midline intracranial structures. Case Reports in Endocrinology 2014: 936937
Wong, J.M.; Chi, S.N.; Marcus, K.J.; Levine, B.-S.; Ullrich, N.J.; MacDonald, S.; Lechpammer, M.; Goumnerova, L.C. 2010: Germinoma with malignant transformation to nongerminomatous germ cell tumor. Journal of Neurosurgery. Pediatrics 6(3): 295-298
Yonezawa, H.; Shinsato, Y.; Obara, S.; Oyoshi, T.; Hirano, H.; Kitajima, S.; Arita, K. 2010: Germinoma with syncytiotrophoblastic giant cells arising in the corpus callosum. Neurologia Medico-Chirurgica 50(7): 588-591
De la Cruz-Cosme, C.; Moreno-Ramírez, V.; Serrano-Castro, V.; Aguilar-Cuevas, R.; Campos-Fernández, J.ín.; Romero-Acebal, M. 2010: Germinoma with tetraventricular extension: the importance of biopsy studies in germinal tumours in the nervous system. Revista de Neurologia 50(6): 381-382
Zanetta, F.; Di Dio, G.; Savastio, S.; Saccagno, A.; Petri, A.; Bellone, S.; Maghnie, M.; Bona, G. 2008: Germinoma: a rare cerebral tumor causing central diabetes insipidus in childhood. Minerva Pediatrica 60(1): 129-133
Phi, J.H.; Cho, B.-K.; Kim, S.-K.; Paeng, J.C.; Kim, I.-O.; Kim, I.H.; Kim, D.G.; Jung, H.-W.; Kim, J.E.; Wang, K.-C. 2010: Germinomas in the basal ganglia: magnetic resonance imaging classification and the prognosis. Journal of Neuro-Oncology 99(2): 227-236
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Fang, J.; Jasperson, K. 2011: Germline APC Mutation and Familial Barrett Esophagus: Causal or Coincidence?. Gastroenterology and Hepatology 7(5): 342-344
Lagarde, A.; Rouleau, E.; Ferrari, A.; Noguchi, T.; Qiu, J.; Briaux, A.; Bourdon, V.; Rémy, V.; Gaildrat, P.; Adélaïde, J.é; Birnbaum, D.; Lidereau, R.; Sobol, H.; Olschwang, S. 2010: Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. Journal of Medical Genetics 47(10): 721-722
Harvey, J.; Clark, S.; Hyer, W.; Hadzic, N.; Tomlinson, I.; Hinds, R. 2008: Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma. Journal of Pediatric Gastroenterology and Nutrition 47(5): 675-677
Graña, B.; Fachal, L.; Darder, E.; Balmaña, J.; Ramón Y Cajal, T.; Blanco, I.; Torres, A.; Lázaro, C.; Diez, O.; Alonso, C.; Santamariña, M.; Velasco, A.; Teulé, A.; Lasa, A.; Blanco, A.; Izquierdo, A.; Borràs, J.; Gutiérrez-Enríquez, S.; Vega, A.; Brunet, J. 2011: Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry. Breast Cancer Research and Treatment 128(2): 573-579
Schwartz, G.W.; Hershberg, U. 2013: Germline Amino Acid Diversity in B Cell Receptors is a Good Predictor of Somatic Selection Pressures. Frontiers in Immunology 4: 357
Njauw, C.-N.J.; Kim, I.; Piris, A.; Gabree, M.; Taylor, M.; Lane, A.M.; DeAngelis, M.M.; Gragoudas, E.; Duncan, L.M.; Tsao, H. 2012: Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. Plos one 7(4): E35295
De la Fouchardière, A.; Cabaret, O.; Savin, L.; Combemale, P.; Schvartz, H.; Penet, C.; Bonadona, V.; Soufir, N.; Bressac-de Paillerets, B. 2015: Germline BAP1 mutations predispose also to multiple basal cell carcinomas. Clinical Genetics 88(3): 273-277
Gallagher, D.J.; Cronin, A.M.; Milowsky, M.I.; Morris, M.J.; Bhatia, J.; Scardino, P.T.; Eastham, J.A.; Offit, K.; Robson, M.E. 2012: Germline BRCA mutation does not prevent response to taxane-based therapy for the treatment of castration-resistant prostate cancer. Bju International 109(5): 713-719
Sharma, P.; Klemp, J.R.; Kimler, B.F.; Mahnken, J.D.; Geier, L.J.; Khan, Q.J.; Elia, M.; Connor, C.S.; McGinness, M.K.; Mammen, J.M.W.; Wagner, J.L.; Ward, C.; Ranallo, L.; Knight, C.J.; Stecklein, S.R.; Jensen, R.A.; Fabian, C.J.; Godwin, A.K. 2014: Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing. Breast Cancer Research and Treatment 145(3): 707-714
Gallagher, D.J.; Gaudet, M.M.; Pal, P.; Kirchhoff, T.; Balistreri, L.; Vora, K.; Bhatia, J.; Stadler, Z.; Fine, S.W.; Reuter, V.; Zelefsky, M.; Morris, M.J.; Scher, H.I.; Klein, R.J.; Norton, L.; Eastham, J.A.; Scardino, P.T.; Robson, M.E.; Offit, K. 2010: Germline BRCA mutations denote a clinicopathologic subset of prostate cancer. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research 16(7): 2115-2121
Schrader, K.A.; Hurlburt, J.; Kalloger, S.E.; Hansford, S.; Young, S.; Huntsman, D.G.; Gilks, C.B.; McAlpine, J.N. 2012: Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy. Obstetrics and Gynecology 120(2 Part 1): 235-240
Vinodkumar, B.; Syamala, V.; Abraham, E.K.; Balakrishnan, R.; Ankathil, R. 2007: Germline BRCA1 mutation and survival analysis in familial breast cancer patients in Kerala; South India. Journal of Experimental and Clinical Cancer Research: Cr 26(3): 329-336
Al-Sukhni, W.; Rothenmund, H.; Borgida, A.E.; Zogopoulos, G.; O'Shea, A.-M.; Pollett, A.; Gallinger, S. 2008: Germline BRCA1 mutations predispose to pancreatic adenocarcinoma. Human Genetics 124(3): 271-278
Skoulidis, F.; Cassidy, L.D.; Pisupati, V.; Jonasson, J.G.; Bjarnason, H.; Eyfjord, J.E.; Karreth, F.A.; Lim, M.; Barber, L.M.; Clatworthy, S.A.; Davies, S.E.; Olive, K.P.; Tuveson, D.A.; Venkitaraman, A.R. 2010: Germline Brca2 heterozygosity promotes Kras(G12D) -driven carcinogenesis in a murine model of familial pancreatic cancer. Cancer Cell 18(5): 499-509
Powell, I.J. 2011: Germline CAG repeat length of the androgen receptor and time to progression in patients with prostate cancer treated with androgen deprivation therapy. Bju International 108(7): 1092
Brohl, A.S.; Stinson, J.R.; Su, H.C.; Badgett, T.; Jennings, C.D.; Sukumar, G.; Sindiri, S.; Wang, W.; Kardava, L.; Moir, S.; Dalgard, C.L.; Moscow, J.A.; Khan, J.; Snow, A.L. 2015: Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis. Journal of Clinical Immunology 35(1): 32-46
Hanson, H.L.; Wilson, M.J.; Short, J.P.; Chioza, B.A.; Crosby, A.H.; Nash, R.M.; Marks, K.J.; Mansour, S. 2014: Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23. American Journal of Medical Genetics. Part a 164a (4): 1003-1009
De Ávila, A.L.R.; Krepischi, A.C.V.; Moredo, L.F.; Aguiar, T.F.M.; da Silva, F.C.; de Sá, B.C.S.; de Nóbrega, A.F.ça.; Achatz, M.I.W.; Duprat, J.ão.P.; Landman, G.; Carraro, D.M. 2014: Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma. Familial Cancer 13(4): 645-649
Laitman, Y.; Kaufman, B.; Lahad, E.L.; Papa, M.Z.; Friedman, E. 2007: Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. Israel Medical Association Journal: Imaj 9(11): 791-796
Bahubeshi, A.; Bal, N.; Rio Frio, T.; Hamel, N.; Pouchet, C.; Yilmaz, A.; Bouron-Dal Soglio, D.ée.; Williams, G.M.; Tischkowitz, M.; Priest, J.R.; Foulkes, W.D. 2010: Germline DICER1 mutations and familial cystic nephroma. Journal of Medical Genetics 47(12): 863-866
Sapkota, Y.; Ghosh, S.; Lai, R.; Coe, B.P.; Cass, C.E.; Yasui, Y.; Mackey, J.R.; Damaraju, S. 2013: Germline DNA copy number aberrations identified as potential prognostic factors for breast cancer recurrence. Plos one 8(1): E53850
Krepischi, A.C.; Achatz, M.I.W.; Santos, E.M.; Costa, S.S.; Lisboa, B.C.; Brentani, H.; Santos, T.M.; Gonçalves, A.; Nóbrega, A.F.; Pearson, P.L.; Vianna-Morgante, A.M.; Carraro, D.M.; Brentani, R.R.; Rosenberg, C. 2012: Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Research: Bcr 14(1): R24
Villela, D.; Kimura, L.; Schlesinger, D.; Gonçalves, A.; Pearson, P.L.; Suemoto, C.K.; Pasqualucci, C.; Krepischi, A.C.; Grinberg, L.T.; Rosenberg, C. 2013: Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene. Genetics and Molecular Biology 36(4): 498-501
Hackett, J.A.; Sengupta, R.; Zylicz, J.J.; Murakami, K.; Lee, C.; Down, T.A.; Surani, M.A. 2013: Germline DNA demethylation dynamics and imprint erasure through 5-hydroxymethylcytosine. Science 339(6118): 448-452
Sapkota, Y. 2014: Germline DNA variations in breast cancer predisposition and prognosis: a systematic review of the literature. Cytogenetic and Genome Research 144(2): 77-91
Yu, H.A.; Arcila, M.E.; Harlan Fleischut, M.; Stadler, Z.; Ladanyi, M.; Berger, M.F.; Robson, M.; Riely, G.J. 2014: Germline EGFR T790M mutation found in multiple members of a familial cohort. Journal of Thoracic Oncology: Official Publication of the International Association for the Study of Lung Cancer 9(4): 554-558
Zogopoulos, G.; Jorgensen, C.; Bacani, J.; Montpetit, A.; Lepage, P.; Ferretti, V.; Chad, L.; Selvarajah, S.; Zanke, B.; Hudson, T.J.; Pawson, T.; Gallinger, S. 2008: Germline EPHB2 receptor variants in familial colorectal cancer. Plos one 3(8): E2885
Clark, G.R.; Sciacovelli, M.; Gaude, E.; Walsh, D.M.; Kirby, G.; Simpson, M.A.; Trembath, R.C.; Berg, J.N.; Woodward, E.R.; Kinning, E.; Morrison, P.J.; Frezza, C.; Maher, E.R. 2014: Germline FH mutations presenting with pheochromocytoma. Journal of Clinical Endocrinology and Metabolism 99(10): E2046-E2050
Yacoubi Loueslati, B.; Troudi, W.; Cherni, L.; Rhomdhane, K.B.; Mota-Vieira, L. 2010: Germline HVR-Ii mitochondrial polymorphisms associated with breast cancer in Tunisian women. Genetics and Molecular Research: Gmr 9(3): 1690-1700
Mead, A.J.; Rugless, M.J.; Jacobsen, S.Eirik.W.; Schuh, A. 2012: Germline JAK2 mutation in a family with hereditary thrombocytosis. New England Journal of Medicine 366(10): 967-969
Gremer, L.; Merbitz-Zahradnik, T.; Dvorsky, R.; Cirstea, I.C.; Kratz, C.P.; Zenker, M.; Wittinghofer, A.; Ahmadian, M.R. 2011: Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. Human Mutation 32(1): 33-43
Papp, J.; Kovacs, M.E.; Olah, E. 2007: Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing. World Journal of Gastroenterology 13(19): 2727-2732
Gargiulo, S.; Torrini, M.; Ollila, S.; Nasti, S.; Pastorino, L.; Cusano, R.; Bonelli, L.; Battistuzzi, L.; Mastracci, L.; Bruno, W.; Savarino, V.; Sciallero, S.; Borgonovo, G.; Nyström, M.; Bianchi-Scarrà, G.; Mareni, C.; Ghiorzo, P. 2009: Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome. Familial Cancer 8(4): 547-553
Devlin, L.A.; Graham, C.A.; Price, J.H.; Morrison, P.J. 2008: Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. Ulster Medical Journal 77(1): 25-30
Scott, R.J.; Crooks, R.; Rose, L.; Attia, J.; Thakkinstian, A.; Thomas, L.; Spigelman, A.D.; Meldrum, C.J. 2004: Germline Missense Changes in the APC Gene and their Relationship to Disease. Hereditary Cancer in Clinical Practice 2(2): 81-91
Khan, A.O.; Khalil, D.S.; Al Sharif, L.J.; Al-Ghadhfan, F.E.; Al Tassan, N.A. 2010: Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. Ophthalmology 117(1): 154-158
Cleary, S.P.; Cotterchio, M.; Jenkins, M.A.; Kim, H.; Bristow, R.; Green, R.; Haile, R.; Hopper, J.L.; LeMarchand, L.; Lindor, N.; Parfrey, P.; Potter, J.; Younghusband, B.; Gallinger, S. 2009: Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 136(4): 1251-1260
Kadariya, Y.; Tang, B.; Wang, L.; Al-Saleem, T.; Hayakawa, K.; Slifker, M.J.; Kruger, W.D. 2013: Germline Mutations in Mtap Cooperate with Myc to Accelerate Tumorigenesis in Mice. Plos one 8(6): E67635
Revencu, N.; Boon, L.M.; Dompmartin, A.; Rieu, P.; Busch, W.L.; Dubois, J.; Forzano, F.; van Hagen, J.M.; Halbach, S.; Kuechler, A.; Lachmeijer, A.M.A.; Lähde, J.; Russell, L.; Simola, K.O.J.; Mulliken, J.B.; Vikkula, M. 2013: Germline Mutations in RASA1 Are not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth. Molecular Syndromology 4(4): 173-178
Clendenning, M.; Young, J.P.; Walsh, M.D.; Woodall, S.; Arnold, J.; Jenkins, M.; Win, A.Ko.; Hopper, J.L.; Sweet, K.; Gallinger, S.; Rosty, C.; Parry, S.; Buchanan, D.D. 2013: Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome. Plos one 8(6): E66705
Brangwynne, C.P.; Eckmann, C.R.; Courson, D.S.; Rybarska, A.; Hoege, C.; Gharakhani, J.öb.; Jülicher, F.; Hyman, A.A. 2009: Germline P granules are liquid droplets that localize by controlled dissolution/condensation. Science 324(5935): 1729-1732
Ward, C.J.; Wu, Y.; Johnson, R.A.; Woollard, J.R.; Bergstralh, E.J.; Cicek, M.S.; Bakeberg, J.; Rossetti, S.; Heyer, C.M.; Petersen, G.M.; Lindor, N.M.; Thibodeau, S.N.; Harris, P.C.; Torres, V.E.; Hogan, M.C.; Boardman, L.A. 2011: Germline PKHD1 mutations are protective against colorectal cancer. Human Genetics 129(3): 345-349
Shuch, B.; Ricketts, C.J.; Vocke, C.D.; Komiya, T.; Middelton, L.A.; Kauffman, E.C.; Merino, M.J.; Metwalli, A.R.; Dennis, P.; Linehan, W.M. 2013: Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer. Journal of Urology 190(6): 1990-1998
Rustad, C.F.; Bjørnslett, M.; Heimdal, K.R.; Mæhle, L.; Apold, J.; Møller, P.ål. 2006: Germline PTEN mutations are rare and highly penetrant. Hereditary Cancer in Clinical Practice 4(4): 177-185
Blumenthal, G.M.; Dennis, P.A. 2008: Germline PTEN mutations as a cause of early-onset endometrial cancer. Journal of clinical oncology: official journal of the American Society of Clinical Oncology 26(13): 2234; author reply 2234
Mahdi, H.; Mester, J.L.; Nizialek, E.A.; Ngeow, J.; Michener, C.; Eng, C. 2015: Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study. Cancer 121(5): 688-696
Prontera, P.; Pantaleoni, F.; Martinelli, S.; Mastrodicasa, E.; Stangoni, G.; Barboni, G.; Tartaglia, M.; Aversa, F.; Donti, E. 2011: Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. Leukemia Research 35(3): E13-E14
Jiang, Y.; Janku, F.; Subbiah, V.; Angelo, L.S.; Naing, A.; Anderson, P.M.; Herzog, C.E.; Fu, S.; Benjamin, R.S.; Kurzrock, R. 2013: Germline PTPRD mutations in Ewing sarcoma: biologic and clinical implications. Oncotarget 4(6): 884-889
Akbari, M.R.; Ghadirian, P.; Robidoux, A.; Foumani, M.; Sun, Y.; Royer, R.; Zandvakili, I.; Lynch, H.; Narod, S.A. 2009: Germline RAP80 mutations and susceptibility to breast cancer. Breast Cancer Research and Treatment 113(2): 377-381
Hedayati, M.; Nabipour, I.; Rezaei-Ghaleh, N.; Azizi, F. 2006: Germline RET mutations in exons 10 and 11: an Iranian survey of 57 medullary thyroid carcinoma cases. Medical Journal of Malaysia 61(5): 564-569
Welander, J.; Garvin, S.; Bohnmark, R.; Isaksson, L.; Wiseman, R.W.; Söderkvist, P.; Gimm, O. 2013: Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma. Journal of Clinical Endocrinology and Metabolism 98(8): E1379-E1380
Ricketts, C.; Woodward, E.R.; Killick, P.; Morris, M.R.; Astuti, D.; Latif, F.; Maher, E.R. 2008: Germline SDHB mutations and familial renal cell carcinoma. Journal of the National Cancer Institute 100(17): 1260-1262
Gill, A.J.; Lipton, L.; Taylor, J.; Benn, D.E.; Richardson, A.L.; Frydenberg, M.; Shapiro, J.; Clifton-Bligh, R.J.; Chow, C.W.; Bogwitz, M. 2013: Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinoma. Pathology 45(7): 689-691
Christiaans, I.; Kenter, S.B.; Brink, H.C.; van Os, T.A.M.; Baas, F.; van den Munckhof, P.; Kidd, A.M.J.; Hulsebos, T.J.M. 2011: Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. Journal of Medical Genetics 48(2): 93-97
Smith, M.J.; Wallace, A.J.; Bennett, C.; Hasselblatt, M.; Elert-Dobkowska, E.; Evans, L.T.; Hickey, W.F.; van Hoff, J.; Bauer, D.; Lee, A.; Hevner, R.F.; Beetz, C.; du Plessis, D.; Kilday, J.-P.; Newman, W.G.; Evans, D.G. 2014: Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas. Journal of Pathology 234(4): 436-440
Kirmani, S.; Tebben, P.J.; Lteif, A.N.; Gordon, D.; Clarke, B.L.; Hefferan, T.E.; Yaszemski, M.J.; McGrann, P.S.; Lindor, N.M.; Ellison, J.W. 2010: Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. American Journal of Medical Genetics. Part a 152a(4): 1016-1019
Valva, P.; Becker, P.; Streitemberger, P.; Lombardi, G.ía.M.; Rey, G.; Guzman, C.A.; Preciado, M.ía.V. 2009: Germline TP53 mutations and single nucleotide polymorphisms in children. Medicina 69(1 Part 2): 143-147
Kamihara, J.; Rana, H.Q.; Garber, J.E. 2014: Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome. Human Mutation 35(6): 654-662
Chak, B.P.; Chan, E.S.; Tong, J.H.; Leung, A.W.; Cheng, F.W.; Lam, G.K.; Shing, M.M.; Li, C.K.; To, K.F. 2015: Germline TP53 mutations is common in patients with two early-onset primary malignancies. Clinical Genetics 87(5): 499-501
Gergics, P.; Patocs, A.; Toth, M.; Igaz, P.; Szucs, N.; Liko, I.; Fazakas, F.; Szabo, I.; Kovacs, B.; Glaz, E.; Racz, K. 2009: Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas. European Journal of Endocrinology 161(3): 495-502
Kemmerich, K.; Dingler, F.A.; Rada, C.; Neuberger, M.S. 2012: Germline ablation of SMUG1 DNA glycosylase causes loss of 5-hydroxymethyluracil- and UNG-backup uracil-excision activities and increases cancer predisposition of Ung-/-Msh2-/- mice. Nucleic Acids Research 40(13): 6016-6025
Fargali, S.; Scherer, T.; Shin, A.C.; Sadahiro, M.; Buettner, C.; Salton, S.R. 2012: Germline ablation of VGF increases lipolysis in white adipose tissue. Journal of Endocrinology 215(2): 313-322
Wei, Q.-X.; Claus, R.; Hielscher, T.; Mertens, D.; Raval, A.; Oakes, C.C.; Tanner, S.M.; de la Chapelle, A.; Byrd, J.C.; Stilgenbauer, S.; Plass, C. 2013: Germline allele-specific expression of DAPK1 in chronic lymphocytic leukemia. Plos one 8(1): E55261
Ngeow, J.; Ni, Y.; Tohme, R.; Song Chen, F.; Bebek, G.; Eng, C. 2014: Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer. Journal of Clinical Endocrinology and Metabolism 99(7): E1316-E1321
Yamada, H.; Shinmura, K.; Ito, H.; Kasami, M.; Sasaki, N.; Shima, H.; Ikeda, M.; Tao, H.; Goto, M.; Ozawa, T.; Tsuneyoshi, T.; Tanioka, F.; Sugimura, H. 2011: Germline alterations in the CDH1 gene in familial gastric cancer in the Japanese population. Cancer Science 102(10): 1782-1788
Gluck, I.; Simon, A.J.; Catane, R.; Pfeffer, R.; Schachter, J.; Rechavi, G.; Bar, J. 2009: Germline analysis of thymidine/guanidine polymorphism at position 309 of the Mdm2 promoter in malignant melanoma patients. Melanoma Research 19(4): 199-202
Sahakitrungruang, T.; Srichomthong, C.; Pornkunwilai, S.; Amornfa, J.; Shuangshoti, S.; Kulawonganunchai, S.; Suphapeetiporn, K.; Shotelersuk, V. 2014: Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease. Journal of Clinical Endocrinology and Metabolism 99(8): E1487-E1492
Bennett, K.L.; Campbell, R.; Ganapathi, S.; Zhou, M.; Rini, B.; Ganapathi, R.; Neumann, H.P.H.; Eng, C. 2011: Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma. Genes Chromosomes and Cancer 50(8): 654-661
Goldin, L.R.; Björkholm, M.; Kristinsson, S.Y.; Samuelsson, J.; Landgren, O. 2009: Germline and somatic JAK2 mutations and susceptibility to chronic myeloproliferative neoplasms. Genome Medicine 1(5): 55
Nizialek, E.A.; Peterson, C.; Mester, J.L.; Downes-Kelly, E.; Eng, C. 2013: Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest. Human Molecular Genetics 22(12): 2451-2461
Upadhyaya, M.; Kluwe, L.; Spurlock, G.; Monem, B.; Majounie, E.; Mantripragada, K.; Ruggieri, M.; Chuzhanova, N.; Evans, D.G.; Ferner, R.; Thomas, N.; Guha, A.; Mautner, V. 2008: Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Human Mutation 29(1): 74-82
Bottillo, I.; Ahlquist, T.; Brekke, H.; Danielsen, S.A.; van den Berg, E.; Mertens, F.; Lothe, R.A.; Dallapiccola, B. 2009: Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. Journal of Pathology 217(5): 693-701
Salvi, A.; Marchina, E.; Benetti, A.; Grigolato, P.; De Petro, G.; Barlati, S. 2008: Germline and somatic c-met mutations in multifocal/bilateral and sporadic papillary renal carcinomas of selected patients. International Journal of Oncology 33(2): 271-276
Lobo, G.P.; Waite, K.A.; Planchon, S.M.; Romigh, T.; Nassif, N.T.; Eng, C. 2009: Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function. Human Molecular Genetics 18(15): 2851-2862
Nocturne, G.; Boudaoud, S.; Miceli-Richard, C.; Viengchareun, S.; Lazure, T.; Nititham, J.; Taylor, K.E.; Ma, A.; Busato, F.; Melki, J.; Lessard, C.J.; Sivils, K.L.; Dubost, J.-J.; Hachulla, E.; Gottenberg, J.E.; Lombès, M.; Tost, J.; Criswell, L.A.; Mariette, X. 2013: Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndrome. Blood 122(25): 4068-4076
Goriely, A.; Lord, H.; Lim, J.; Johnson, D.; Lester, T.; Firth, H.V.; Wilkie, A.O.M. 2010: Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. American Journal of Medical Genetics. Part a 152a (8): 2067-2073
Roux-Buisson, N.; Egéa, G.ég.; Denjoy, I.; Guicheney, P.; Lunardi, J. 2011: Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring. Europace: European Pacing Arrhythmias and Cardiac Electrophysiology: Journal of the Working Groups on Cardiac Pacing Arrhythmias and Cardiac Cellular Electrophysiology of the European Society of Cardiology 13(1): 130-132
Pennington, K.P.; Walsh, T.; Harrell, M.I.; Lee, M.K.; Pennil, C.C.; Rendi, M.H.; Thornton, A.; Norquist, B.M.; Casadei, S.; Nord, A.S.; Agnew, K.J.; Pritchard, C.C.; Scroggins, S.; Garcia, R.L.; King, M.-C.; Swisher, E.M. 2014: Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research 20(3): 764-775
Kawamura, K.; Tiozzo, S.; Manni, L.; Sunanaga, T.; Burighel, P.; De Tomaso, A.W. 2011: Germline cell formation and gonad regeneration in solitary and colonial ascidians. Developmental Dynamics: An Official Publication of the American Association of Anatomists 240(2): 299-308
Schaner, C.E.; Kelly, W.G. 2006: Germline chromatin. Wormbook: the Online Review of C. Elegans Biology 2006: 1-14
Carstea, A.C.; Pirity, M.K.; Dinnyes, A. 2009: Germline competence of mouse ES and iPS cell lines: Chimera technologies and genetic background. World Journal of Stem Cells 1(1): 22-29
Liu, Z.; Hu, Z.; Pan, X.; Li, M.; Togun, T.A.; Tuck, D.; Pelizzola, M.; Huang, J.; Ye, X.; Yin, Y.; Liu, M.; Li, C.; Chen, Z.; Wang, F.; Zhou, L.; Chen, L.; Keefe, D.L.; Liu, L. 2011: Germline competency of parthenogenetic embryonic stem cells from immature oocytes of adult mouse ovary. Human Molecular Genetics 20(7): 1339-1352
Kuiper, R.P.; Ligtenberg, M.J.L.; Hoogerbrugge, N.; Geurts van Kessel, A. 2010: Germline copy number variation and cancer risk. Current Opinion in Genetics and Development 20(3): 282-289
Fridley, B.L.; Chalise, P.; Tsai, Y.-Y.; Sun, Z.; Vierkant, R.A.; Larson, M.C.; Cunningham, J.M.; Iversen, E.S.; Fenstermacher, D.; Barnholtz-Sloan, J.; Asmann, Y.; Risch, H.A.; Schildkraut, J.M.; Phelan, C.M.; Sutphen, R.; Sellers, T.A.; Goode, E.L. 2012: Germline copy number variation and ovarian cancer survival. Frontiers in Genetics 3: 142
Al-Sukhni, W.; Gallinger, S. 2008: Germline copy number variation in control populations. Cytogenetic and Genome Research 123(1-4): 211-223
Fanale, D.; Iovanna, J.L.; Calvo, E.L.; Berthezene, P.; Belleau, P.; Dagorn, J.C.; Bronte, G.; Cicero, G.; Bazan, V.; Rolfo, C.; Santini, D.; Russo, A. 2014: Germline copy number variation in the YTHDC2 gene: does it have a role in finding a novel potential molecular target involved in pancreatic adenocarcinoma susceptibility?. Expert Opinion on Therapeutic Targets 18(8): 841-850
Krepischi, A.C.V.; Pearson, P.L.; Rosenberg, C. 2012: Germline copy number variations and cancer predisposition. Future Oncology 8(4): 441-450
Yoshihara, K.; Tajima, A.; Adachi, S.; Quan, J.; Sekine, M.; Kase, H.; Yahata, T.; Inoue, I.; Tanaka, K. 2011: Germline copy number variations in BRCA1-associated ovarian cancer patients. Genes Chromosomes and Cancer 50(3): 167-177
Mead, A.J.; Constantinescu, S.N.; Jacobsen, S.E. 2013: Germline counterparts of oncogenic mutations: who gives a JAK?. Oncotarget 4(6): 814-815
Ong, S.; Tan, C. 2010: Germline cyst formation and incomplete cytokinesis during Drosophila melanogaster oogenesis. Developmental Biology 337(1): 84-98
Mazzoni, T.S.; Grier, H.J.; Quagio-Grassiotto, I. 2010: Germline cysts and the formation of the germinal epithelium during the female gonadal morphogenesis in Cyprinus carpio (Teleostei: Ostariophysi: Cypriniformes). Anatomical Record 293(9): 1581-1606
Ahmad, F.; Oyen, F.; Jan, R.; Budde, U.; Schneppenheim, R.; Saxena, R. 2014: Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease. Haemophilia: the Official Journal of the World Federation of Hemophilia 20(4): E311-E317
Iwata, T.; Tamanaha, T.; Koezuka, R.; Tochiya, M.; Makino, H.; Kishimoto, I.; Mizusawa, N.; Ono, S.; Inoshita, N.; Yamada, S.; Shimatsu, A.; Yoshimoto, K. 2015: Germline deletion and a somatic mutation of the PRKAR1A gene in a Carney complex-related pituitary adenoma. European Journal of Endocrinology 172(1): K5-10
Quinn, J.M.W.; Tam, S.; Sims, N.A.; Saleh, H.; McGregor, N.E.; Poulton, I.J.; Scott, J.W.; Gillespie, M.T.; Kemp, B.E.; van Denderen, B.J.W. 2010: Germline deletion of AMP-activated protein kinase beta subunits reduces bone mass without altering osteoclast differentiation or function. Faseb Journal: Official Publication of the Federation of American Societies for Experimental Biology 24(1): 275-285
O'Neill, T.J.; Mack, C.P.; Taylor, J.M. 2012: Germline deletion of FAK-related non-kinase delays post-natal cardiomyocyte mitotic arrest. Journal of Molecular and Cellular Cardiology 53(2): 156-164
Garcia, M.; Leonardi, R.; Zhang, Y.-M.; Rehg, J.E.; Jackowski, S. 2012: Germline deletion of pantothenate kinases 1 and 2 reveals the key roles for CoA in postnatal metabolism. Plos one 7(7): E40871
Marcello, M.R.; Singson, A. 2011: Germline determination: don't mind the P granules. Current Biology: Cb 21(4): R155-R157
Tilot, A.K.; Gaugler, M.K.; Yu, Q.; Romigh, T.; Yu, W.; Miller, R.H.; Frazier, T.W.; Eng, C. 2014: Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production. Human Molecular Genetics 23(12): 3212-3227
Mihci, E.; Lindor, N.M. 2008: Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous malignant melanoma. American Journal of Medical Genetics. Part a 146a (17): 2298-2300
Bennett, K.L.; Mester, J.; Eng, C. 2010: Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA 304(24): 2724-2731
Venkatachalam, R.; Ligtenberg, M.J.L.; Hoogerbrugge, N.; Schackert, H.K.; Görgens, H.; Hahn, M.-M.; Kamping, E.J.; Vreede, L.; Hoenselaar, E.; van der Looij, E.; Goossens, M.; Churchman, M.; Carvajal-Carmona, L.; Tomlinson, I.P.M.; de Bruijn, D.R.H.; Van Kessel, A.G.; Kuiper, R.P. 2010: Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer. Gastroenterology 139(6): 2221-2224
Cropley, J.E.; Martin, D.I.K.; Suter, C.M. 2008: Germline epimutation in humans. Pharmacogenomics 9(12): 1861-1868
Reinke, V.; Cutter, A.D. 2009: Germline expression influences operon organization in the Caenorhabditis elegans genome. Genetics 181(4): 1219-1228
De Pontual, L.ïc.; Kettaneh, D.; Gordon, C.T.; Oufadem, M.; Boddaert, N.; Lees, M.; Balu, L.; Lachassinne, E.; Petros, A.; Mollet, J.; Wilson, L.C.; Munnich, A.; Brugière, L.; Delattre, O.; Vekemans, M.; Etchevers, H.; Lyonnet, S.; Janoueix-Lerosey, I.; Amiel, J. 2011: Germline gain-of-function mutations of ALK disrupt central nervous system development. Human Mutation 32(3): 272-276
Velasco, G.; Walton, E.L.; Sterlin, D.; Hédouin, S.; Nitta, H.; Ito, Y.; Fouyssac, F.; Mégarbané, A.é; Sasaki, H.; Picard, C.; Francastel, C. 2014: Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology. Orphanet Journal of Rare Diseases 9: 56
Ek, W.E.; Levine, D.M.; D'Amato, M.; Pedersen, N.L.; Magnusson, P.K.E.; Bresso, F.; Onstad, L.E.; Schmidt, P.T.; Törnblom, H.; Nordenstedt, H.; Romero, Y.; Chow, W.-H.; Murray, L.J.; Gammon, M.D.; Liu, G.; Bernstein, L.; Casson, A.G.; Risch, H.A.; Shaheen, N.J.; Bird, N.C.; Reid, B.J.; Corley, D.A.; Hardie, L.J.; Ye, W.; Wu, A.H.; Zucchelli, M.; Spector, T.D.; Hysi, P.; Vaughan, T.L.; Whiteman, D.C.; MacGregor, S. 2013: Germline genetic contributions to risk for esophageal adenocarcinoma, Barrett's esophagus, and gastroesophageal reflux. Journal of the National Cancer Institute 105(22): 1711-1718
Grotenhuis, A.J.; Vermeulen, S.H.; Kiemeney, L.A. 2010: Germline genetic markers for urinary bladder cancer risk, prognosis and treatment response. Future Oncology 6(9): 1433-1460
Windsor, R.E.; Strauss, S.J.; Kallis, C.; Wood, N.E.; Whelan, J.S. 2012: Germline genetic polymorphisms may influence chemotherapy response and disease outcome in osteosarcoma: a pilot study. Cancer 118(7): 1856-1867
Soh, T.I.P.; Yong, W.P. 2011: Germline genetic testing to predict drug response and toxicity in oncology--reality or fiction?. Annals of the Academy of Medicine Singapore 40(8): 350-355
Goh, C.L.; Eeles, R.A. 2014: Germline genetic variants associated with prostate cancer and potential relevance to clinical practice. Recent Results in Cancer Research. Fortschritte der Krebsforschung. Progres Dans les Recherches sur le Cancer 202: 9-26
Chen, A-Xiang.; Yu, K-Da.; Fan, L.; Li, J-Yu.; Yang, C.; Huang, A-Ji.; Shao, Z-Ming. 2011: Germline genetic variants disturbing the Let-7/LIN28 double-negative feedback loop alter breast cancer susceptibility. Plos Genetics 7(9): E1002259
Udler, M.; Pharoah, P.D.P. 2007: Germline genetic variation and breast cancer survival: prognostic and therapeutic implications. Future Oncology 3(5): 491-495
Sepe, D.M.; McWilliams, T.; Chen, J.; Kershenbaum, A.; Zhao, H.; La, M.; Devidas, M.; Lange, B.; Rebbeck, T.R.; Aplenc, R. 2012: Germline genetic variation and treatment response on CCG-1891. Pediatric Blood and Cancer 58(5): 695-700
Treviño, L.R.; Shimasaki, N.; Yang, W.; Panetta, J.C.; Cheng, C.; Pei, D.; Chan, D.; Sparreboom, A.; Giacomini, K.M.; Pui, C.-H.; Evans, W.E.; Relling, M.V. 2009: Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology 27(35): 5972-5978
Patel, S.J.; Molinolo, A.A.; Gutkind, S.; Crawford, N.P.S. 2013: Germline genetic variation modulates tumor progression and metastasis in a mouse model of neuroendocrine prostate carcinoma. Plos one 8(4): E61848
Coate, L.; Cuffe, S.; Horgan, A.; Hung, R.J.; Christiani, D.; Liu, G. 2010: Germline genetic variation, cancer outcome, and pharmacogenetics. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology 28(26): 4029-4037
Audenet, F.ço.; Cancel-Tassin, G.ér.; Bigot, P.; Audouin, M.; Gaffory, C.éc.; Ondet, V.ér.; Thibault, F.éd.ér.; Auribault, K.; Gazut, S.ép.; Benhabiles, N.; Azzouzi, A.-R.èn.; Méjean, A.; Rouprêt, M.; Cussenot, O. 2014: Germline genetic variations at 11q13 and 12p11 locus modulate age at onset for renal cell carcinoma. Journal of Urology 191(2): 487-492
Wu, X.; Lu, C.; Ye, Y.; Chang, J.; Yang, H.; Lin, J.; Gu, J.; Hong, W.K.; Stewart, D.; Spitz, M.R. 2008: Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy. Pharmacogenetics and Genomics 18(11): 955-965
Groß, S.; Immel, U.-D.; Klintschar, M.; Bartel, F. 2014: Germline genetics of the p53 pathway affect longevity in a gender specific manner. Current Aging Science 7(2): 91-100
Denic, S.; Nagelkerke, N.; Nicholls, M.Gary. 2008: Germline genomic homozygosity and cancer risk. JAMA 300(2): 169-70; author reply 170
Reinke, V. 2006: Germline genomics. Wormbook: the Online Review of C. Elegans Biology 2006: 1-10
Ooi, S.L.; Henikoff, S. 2007: Germline histone dynamics and epigenetics. Current Opinion in Cell Biology 19(3): 257-265
Shang, Z.; Zhu, S.; Zhang, H.; Li, L.; Niu, Y. 2013: Germline homeobox B13 (HOXB13) G84E mutation and prostate cancer risk in European descendants: a meta-analysis of 24,213 cases and 73, 631 controls. European Urology 64(1): 173-176
Robert, R.; Streltsov, V.A.; Newman, J.; Pearce, L.A.; Wark, K.L.; Dolezal, O. 2010: Germline humanization of a murine Abeta antibody and crystal structure of the humanized recombinant Fab fragment. Protein Science: a Publication of the Protein Society 19(2): 299-308
Niessen, R.ée.C.; Hofstra, R.M.W.; Westers, H.; Ligtenberg, M.J.L.; Kooi, K.; Jager, P.O.J.; de Groote, M.L.; Dijkhuizen, T.; Olderode-Berends, M.J.W.; Hollema, H.; Kleibeuker, J.H.; Sijmons, R.H. 2009: Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes and Cancer 48(8): 737-744
Ward, K.A.; Lazovich, D.; Hordinsky, M.K. 2012: Germline melanoma susceptibility and prognostic genes: a review of the literature. Journal of the American Academy of Dermatology 67(5): 1055-1067
Graveel, C.R.; DeGroot, J.D.; Sigler, R.E.; Vande Woude, G.F. 2010: Germline met mutations in mice reveal mutation- and background-associated differences in tumor profiles. Plos one 5(10): E13586
Tawn, E.J.; Rees, G.S.; Leith, C.; Winther, J.F.; Curwen, G.B.; Stovall, M.; Olsen, J.ør.H.; Rechnitzer, C.; Schroeder, H.; Guldberg, P.; Boice, J.D. 2011: Germline minisatellite mutations in survivors of childhood and young adult cancer treated with radiation. International Journal of Radiation Biology 87(3): 330-340
Fitzgerald, L.M.; Kumar, A.; Boyle, E.A.; Zhang, Y.; McIntosh, L.M.; Kolb, S.; Stott-Miller, M.; Smith, T.; Karyadi, D.M.; Ostrander, E.A.; Hsu, L.; Shendure, J.; Stanford, J.L. 2013: Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility. Cancer Epidemiology Biomarkers and Prevention: a Publication of the American Association for Cancer Research Cosponsored by the American Society of Preventive Oncology 22(9): 1520-1528
Kanatsu-Shinohara, M.; Shinohara, T. 2010: Germline modification using mouse spermatogonial stem cells. Methods in Enzymology 477: 17-36
Shanske, A.L.; Goodrich, J.T.; Ala-Kokko, L.; Baker, S.; Frederick, B.; Levy, B. 2012: Germline mosacism in Shprintzen-Goldberg syndrome. American Journal of Medical Genetics. Part a 158a (7): 1574-1578
Meyer, K.J.; Axelsen, M.S.; Sheffield, V.C.; Patil, S.R.; Wassink, T.H. 2012: Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism. Psychiatric Genetics 22(3): 137-140
Rowsey, R.; Kashevarova, A.; Murdoch, B.; Dickenson, C.; Woodruff, T.; Cheng, E.; Hunt, P.; Hassold, T. 2013: Germline mosaicism does not explain the maternal age effect on trisomy. American Journal of Medical Genetics. Part a 161a (10): 2495-2503
Bonapace, G.; Ceravolo, F.; Piccirillo, A.; Duro, G.; Strisciuglio, P.; Concolino, D. 2010: Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. American Journal of Medical Genetics. Part a 152a (11): 2898-2900
Slavin, T.P.; Lazebnik, N.; Clark, D.M.; Vengoechea, J.; Cohen, L.; Kaur, M.; Konczal, L.; Crowe, C.A.; Corteville, J.E.; Nowaczyk, M.J.; Byrne, J.L.; Jackson, L.G.; Krantz, I.D. 2012: Germline mosaicism in Cornelia de Lange syndrome. American Journal of Medical Genetics. Part a 158a (6): 1481-1485
Mariani, M.; Bettini, L.R.; Cereda, A.; Maitz, S.; Gervasini, C.; Russo, S.; Masciadri, M.; Biondi, A.; Larizza, L.; Selicorni, A. 2013: Germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures. American Journal of Medical Genetics. Part a 161a (7): 1825-1826
LaPointe, M.M.; Spriggs, E.L.; Mhanni, A.A. 2014: Germline mosaicism in X-linked periventricular nodular heterotopia. Bmc Neurology 14: 125
Sbidian, E.; Feldmann, D.; Bengoa, J.; Fraitag, S.; Abadie, V.; de Prost, Y.; Bodemer, C.; Hadj-Rabia, S. 2010: Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form. Clinical Genetics 77(6): 587-592
Bottillo, I.; Torrente, I.; Lanari, V.; Pinna, V.; Giustini, S.; Divona, L.; De Luca, A.; Dallapiccola, B. 2010: Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. American Journal of Medical Genetics. Part a 152a (6): 1467-1473
Rand, C.M.; Yu, M.; Jennings, L.J.; Panesar, K.; Berry-Kravis, E.M.; Zhou, L.; Weese-Mayer, D.E. 2012: Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). American Journal of Medical Genetics. Part a 158a (9): 2297-2301
Takeda, J.; Keng, V.W.; Horie, K. 2007: Germline mutagenesis mediated by Sleeping Beauty transposon system in mice. Genome Biology 8 Suppl. 1: S14
Zahary, M.N.; Kaur, G.; Abu Hassan, M.R.; Singh, H.; Naik, V.R.; Ankathil, R. 2012: Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients. World Journal of Gastroenterology 18(8): 814-820
Yang, H.R.; Ko, J.S.; Seo, J.K. 2010: Germline mutation analysis of STK11 gene using direct sequencing and multiplex ligation-dependent probe amplification assay in Korean children with Peutz-Jeghers syndrome. Digestive Diseases and Sciences 55(12): 3458-3465
Sheng, X.; Zhou, H.-H.; Zhou, X.-Y.; Du, X.; Zhang, T.-M.; Cai, S.-J.; Sheng, W.-Q.; Shi, D.-R. 2010: Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer. World Journal of Gastroenterology 16(30): 3847-3852
Zahary, M.N.; Kaur, G.; Hassan, M.R.A.; Sidek, A.S.M.; Singh, H.; Yeh, L.Y.; Ankathil, R. 2014: Germline mutation and protein expression analysis of mismatch repair genes MSH6 and PMS2 in Malaysian Lynch syndrome patients. International Journal of Colorectal Disease 29(2): 261-262
Tanaka, A.; Weinel, S.; Nagy, N.; O'Driscoll, M.; Lai-Cheong, J.E.; Kulp-Shorten, C.L.; Knable, A.; Carpenter, G.; Fisher, S.A.; Hiragun, M.; Yanase, Y.; Hide, M.; Callen, J.; McGrath, J.A. 2012: Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. American Journal of Human Genetics 90(3): 511-517
Champion, K.J.; Bunag, C.; Estep, A.L.; Jones, J.R.; Bolt, C.H.; Rogers, R.C.; Rauen, K.A.; Everman, D.B. 2011: Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. Clinical Genetics 79(5): 468-474
Candido-dos-Reis, F.J.; Song, H.; Goode, E.L.; Cunningham, J.M.; Fridley, B.L.; Larson, M.C.; Alsop, K.; Dicks, E.; Harrington, P.; Ramus, S.J.; de Fazio, A.; Mitchell, G.; Fereday, S.; Bolton, K.L.; Gourley, C.; Michie, C.; Karlan, B.; Lester, J.; Walsh, C.; Cass, I.; Olsson, H.åk.; Gore, M.; Benitez, J.J.; Garcia, M.J.; Andrulis, I.; Mulligan, A.M.; Glendon, G.; Blanco, I.; Lazaro, C.; Whittemore, A.S.; McGuire, V.; Sieh, W.; Montagna, M.; Alducci, E.; Sadetzki, S.; Chetrit, A.; Kwong, A.; Kjaer, S.K.; Jensen, A.; Høgdall, E.; Neuhausen, S.; Nussbaum, R.; Daly, M.; Greene, M.H.; Mai, P.L.; Loud, J.T.; Moysich, K.; Toland, A.E.; Lambrechts, D.; Ellis, S.; Frost, D.; Brenton, J.D.; Tischkowitz, M.; Easton, D.F.; Antoniou, A.; Chenevix-Tre 2015: Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research 21(3): 652-657
Vogt, J.; Morgan, N.V.; Marton, T.; Maxwell, S.; Harrison, B.J.; Beeson, D.; Maher, E.R. 2009: Germline mutation in DOK7 associated with fetal akinesia deformation sequence. Journal of Medical Genetics 46(5): 338-340
Tavakkol, Z.; Keller, J.J.; Furmanczyk, P.S.; Bennett, R.L.; Chien, A.J. 2012: Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient with Muir-Torre syndrome. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology 30(22): E195-E198
Meyer, E.; Lim, D.; Pasha, S.; Tee, L.J.; Rahman, F.; Yates, J.R.W.; Woods, C.G.; Reik, W.; Maher, E.R. 2009: Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). Plos Genetics 5(3): E1000423
Madsen, B.E.; Ramos, E.M.; Boulard, M.; Duda, K.; Overgaard, J.; Nordsmark, M.; Wiuf, C.; Hansen, L.L. 2008: Germline mutation in RNASEL predicts increased risk of head and neck, uterine cervix and breast cancer. Plos one 3(6): E2492
Golmard, L.; Caux-Moncoutier, V.; Davy, G.ég.; Al Ageeli, E.; Poirot, B.; Tirapo, C.; Michaux, D.ée.; Barbaroux, C.; d'Enghien, C.D.; Nicolas, A.é; Castéra, L.; Sastre-Garau, X.; Stern, M.-H.; Houdayer, C.; Stoppa-Lyonnet, D. 2013: Germline mutation in the RAD51B gene confers predisposition to breast cancer. Bmc Cancer 13: 484
AlFadhli, S.M.; Mohammed, B.; Yassin, A. 2008: Germline mutation in the von Hippel-Lindau gene in Kuwait: a clinical and molecular study. Medical Principles and Practice: International Journal of the Kuwait University Health Science Centre 17(5): 395-399
Xu, J.; Kadariya, Y.; Cheung, M.; Pei, J.; Talarchek, J.; Sementino, E.; Tan, Y.; Menges, C.W.; Cai, K.Q.; Litwin, S.; Peng, H.; Karar, J.; Rauscher, F.J.; Testa, J.R. 2014: Germline mutation of Bap1 accelerates development of asbestos-induced malignant mesothelioma. Cancer Research 74(16): 4388-4397
Hyakuna, N.; Muramatsu, H.; Higa, T.; Chinen, Y.; Wang, X.; Kojima, S. 2015: Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder. Pediatric Blood and Cancer 62(3): 542-544
Nieminen, T.T.; O'Donohue, M.-F.ço.; Wu, Y.; Lohi, H.; Scherer, S.W.; Paterson, A.D.; Ellonen, P.; Abdel-Rahman, W.M.; Valo, S.; Mecklin, J.-P.; Järvinen, H.J.; Gleizes, P.-E.; Peltomäki, P.äi. 2014: Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology 147(3): 595-598.E5
Wang, T.-t.; Chen, S.-q.; Zhang, X.-m. 2008: Germline mutation of adenomatous polyposis coli gene in Chinese patients with familial adenomatous polyposis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25(2): 199-202
Li, W.; Duan, R.; Kooy, F.; Sherman, S.L.; Zhou, W.; Jin, P. 2009: Germline mutation of microRNA-125a is associated with breast cancer. Journal of Medical Genetics 46(5): 358-360
Mayrbaeurl, B.; Keller, G.; Schauer, W.; Burgstaller, S.; Czompo, M.; Hoebling, W.; Knoflach, P.; Duba, H.C.; Hoefler, H.; Thaler, J. 2010: Germline mutation of the E-cadherin gene in three sibling cases with advanced gastric cancer: clinical consequences for the other family members. European Journal of Gastroenterology and Hepatology 22(3): 306-310
Bergman, A.; Sahlin, P.; Emanuelsson, M.; Carén, H.; Tarnow, P.; Martinsson, T.; Grönberg, H.; Stenman, G.ör. 2009: Germline mutation screening of the Saethre-Chotzen-associated genes TWIST1 and FGFR3 in families with BRCA1/2-negative breast cancer. Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery 43(5): 251-255
Zheng, Y.; Zhang, J.; Niu, Q.; Olopade, O.I.; Huo, D. 2011: Germline mutational analysis of the C19orf62 gene in African-American women with breast cancer. Breast cancer research and treatment 127(3): 871-877
Mateju, M.; Kleiblova, P.; Kleibl, Z.; Janatova, M.; Soukupova, J.; Ticha, I.; Novotny, J.; Pohlreich, P. 2012: Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women. Breast Cancer Research and Treatment 133(2): 809-811
Mannstadt, M.; Harris, M.; Bravenboer, B.; Chitturi, S.; Dreijerink, K.M.A.; Lambright, D.G.; Lim, E.T.; Daly, M.J.; Gabriel, S.; Jüppner, H. 2013: Germline mutations affecting Gα11 in hypoparathyroidism. New England Journal of Medicine 368(26): 2532-2534
Kim, J.H.; Seong, M.-W.; Lee, K.E.; Choi, H.J.; Ku, E.J.; Bae, J.H.; Park, S.S.; Choi, S.H.; Kim, S.W.; Shin, C.; Kim, S.Y. 2014: Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea. Clinical Genetics 86(5): 482-486
Hirshfield, K.M.; Rebbeck, T.R.; Levine, A.J. 2010: Germline mutations and polymorphisms in the origins of cancers in women. Journal of Oncology 2010: 297671
Ismail, I.H.; Davidson, R.; Gagné, J.-P.; Xu, Z.Z.; Poirier, G.G.; Hendzel, M.J. 2014: Germline mutations in BAP1 impair its function in DNA double-strand break repair. Cancer Research 74(16): 4282-4294
Laitman, Y.; Borsthein, R.T.; Stoppa-Lyonnet, D.; Dagan, E.; Castera, L.; Goislard, M.; Gershoni-Baruch, R.; Goldberg, H.; Kaufman, B.; Ben-Baruch, N.; Zidan, J.; Maray, T.; Soussan-Gutman, L.; Friedman, E. 2011: Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel. Breast Cancer Research and Treatment 127(2): 489-495
Schrader, K.A.; Masciari, S.; Boyd, N.; Salamanca, C.; Senz, J.; Saunders, D.N.; Yorida, E.; Maines-Bandiera, S.; Kaurah, P.; Tung, N.; Robson, M.E.; Ryan, P.D.; Olopade, O.I.; Domchek, S.M.; Ford, J.; Isaacs, C.; Brown, P.; Balmana, J.; Razzak, A.R.; Miron, P.; Coffey, K.; Terry, M.B.; John, E.M.; Andrulis, I.L.; Knight, J.A.; O'Malley, F.P.; Daly, M.; Bender, P.; Moore, R.; Southey, M.C.; Hopper, J.L.; Garber, J.E.; Huntsman, D.G. 2011: Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. Journal of Medical Genetics 48(1): 64-68
Nagore, E.; Montoro, A.; García-Casado, Z.; Botella-Estrada, R.; Insa, A.; Lluch, A.; López-Guerrero, J.é A.; Guillén, C. 2009: Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer. Melanoma Research 19(4): 211-214
Bourdeaut, F.; Miquel, C.; Di Rocco, F.; Grison, C.; Richer, W.; Brugieres, L.; Pierron, G.; James, S.; Baujat, G.; Delattre, O.; Collet, C. 2013: Germline mutations in FGF receptors and medulloblastomas. American Journal of Medical Genetics. Part a 161a (2): 382-385
Castro-Vega, L.J.; Buffet, A.; De Cubas, A.A.; Cascón, A.; Menara, M.él.; Khalifa, E.; Amar, L.; Azriel, S.; Bourdeau, I.; Chabre, O.; Currás-Freixes, M.; Franco-Vidal, V.ér.; Guillaud-Bataille, M.; Simian, C.; Morin, A.él.; Letón, R.ío.; Gómez-Graña, A.; Pollard, P.J.; Rustin, P.; Robledo, M.; Favier, J.; Gimenez-Roqueplo, A.-P. 2014: Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Human Molecular Genetics 23(9): 2440-2446
Ewing, C.M.; Ray, A.M.; Lange, E.M.; Zuhlke, K.A.; Robbins, C.M.; Tembe, W.D.; Wiley, K.E.; Isaacs, S.D.; Johng, D.; Wang, Y.; Bizon, C.; Yan, G.; Gielzak, M.; Partin, A.W.; Shanmugam, V.; Izatt, T.; Sinari, S.; Craig, D.W.; Zheng, S.Lilly.; Walsh, P.C.; Montie, J.E.; Xu, J.; Carpten, J.D.; Isaacs, W.B.; Cooney, K.A. 2012: Germline mutations in HOXB13 and prostate-cancer risk. New England Journal of Medicine 366(2): 141-149
Gaston, D.; Hansford, S.; Oliveira, C.; Nightingale, M.; Pinheiro, H.; Macgillivray, C.; Kaurah, P.; Rideout, A.L.; Steele, P.; Soares, G.; Huang, W.-Y.; Whitehouse, S.; Blowers, S.; LeBlanc, M.A.; Jiang, H.; Greer, W.; Samuels, M.E.; Orr, A.; Fernandez, C.V.; Majewski, J.; Ludman, M.; Dyack, S.; Penney, L.S.; McMaster, C.R.; Huntsman, D.; Bedard, K. 2014: Germline mutations in MAP3K6 are associated with familial gastric cancer. Plos Genetics 10(10): E1004669
Papi, L.; Palli, D.; Masi, L.; Putignano, A.Laura.; Congregati, C.; Zanna, I.; Marini, F.; Giusti, F.; Luzi, E.; Tonelli, F.; Genuardi, M.; Brandi, M.Luisa.; Falchetti, A. 2009: Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report. Cancer Genetics and Cytogenetics 195(1): 75-79
Orloff, M.; Peterson, C.; He, X.; Ganapathi, S.; Heald, B.; Yang, Y.-r.; Bebek, G.; Romigh, T.; Song, J.H.; Wu, W.; David, S.; Cheng, Y.; Meltzer, S.J.; Eng, C. 2011: Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma. JAMA 306(4): 410-419
Chen, K.; Coonrod, E.M.; Kumánovics, A.; Franks, Z.F.; Durtschi, J.D.; Margraf, R.L.; Wu, W.; Heikal, N.M.; Augustine, N.H.; Ridge, P.G.; Hill, H.R.; Jorde, L.B.; Weyrich, A.S.; Zimmerman, G.A.; Gundlapalli, A.V.; Bohnsack, J.F.; Voelkerding, K.V. 2013: Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. American Journal of Human Genetics 93(5): 812-824
Ding, Y.Chun.; Steele, L.; Chu, L-Hao.; Kelley, K.; Davis, H.; John, E.M.; Tomlinson, G.E.; Neuhausen, S.L. 2011: Germline mutations in PALB2 in African-American breast cancer cases. Breast cancer research and treatment 126(1): 227-230
Dereure, O. 2013: Germline mutations in PIK3CA and AKT1 in Cowden syndrome and related diseases. Annales de Dermatologie et de Venereologie 140(11): 739-740
Sellick, G.; Fielding, S.; Qureshi, M.; Catovsky, D.; Houlston, R. 2008: Germline mutations in RAD51, RAD51AP1, RAD51B, RAD51C,RAD51D, RAD52 and RAD54L do not contribute to familial chronic lymphocytic leukemia. Leukemia and Lymphoma 49(1): 130-133
Smith, M.J.; Beetz, C.; Williams, S.G.; Bhaskar, S.S.; O'Sullivan, J.; Anderson, B.; Daly, S.B.; Urquhart, J.E.; Bholah, Z.; Oudit, D.; Cheesman, E.; Kelsey, A.; McCabe, M.G.; Newman, W.G.; Evans, D.G.R. 2014: Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology 32(36): 4155-4161
MacDonald, D.J. 2011: Germline mutations in cancer susceptibility genes: an overview for nurses. Seminars in Oncology Nursing 27(1): 21-33
Oxnard, G.R.; Nguyen, K.-S.H.; Costa, D.B. 2014: Germline mutations in driver oncogenes and inherited lung cancer risk independent of smoking history. Journal of the National Cancer Institute 106(1): Djt361
Gala, M.K.; Mizukami, Y.; Le, L.P.; Moriichi, K.; Austin, T.; Yamamoto, M.; Lauwers, G.Y.; Bardeesy, N.; Chung, D.C. 2014: Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. Gastroenterology 146(2): 520-529
Abouzeid, H.; Schorderet, D.F.; Balmer, A.; Munier, F.L. 2009: Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis. Molecular Vision 15: 771-777
Owens, M.; Stals, K.; Ellard, S.; Vaidya, B. 2009: Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1. Clinical Endocrinology 70(3): 499-500
Schulz, E.; Valentin, A.; Ulz, P.; Beham-Schmid, C.; Lind, K.; Rupp, V.; Lackner, H.; Wölfler, A.; Zebisch, A.; Olipitz, W.; Geigl, J.; Berghold, A.; Speicher, M.R.; Sill, H. 2012: Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms. Journal of Medical Genetics 49(7): 422-428
Hellebrand, H.; Sutter, C.; Honisch, E.; Gross, E.; Wappenschmidt, B.; Schem, C.; Deissler, H.; Ditsch, N.; Gress, V.; Kiechle, M.; Bartram, C.R.; Schmutzler, R.K.; Niederacher, D.; Arnold, N.; Meindl, A. 2011: Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. Human Mutation 32(6): E2176-E2188
Guénard, F.éd.ér.; Labrie, Y.; Ouellette, G.èv.; Beauparlant, C.J.; Bessette, P.; Chiquette, J.; Laframboise, R.; Lépine, J.; Lespérance, B.; Pichette, R.; Plante, M.; Durocher, F. 2007: Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families. Familial Cancer 6(4): 483-490
Tatton-Brown, K.; Hanks, S.; Ruark, E.; Zachariou, A.; Duarte, S.D.V.; Ramsay, E.; Snape, K.; Murray, A.; Perdeaux, E.R.; Seal, S.; Loveday, C.; Banka, S.; Clericuzio, C.; Flinter, F.; Magee, A.; McConnell, V.; Patton, M.; Raith, W.; Rankin, J.; Splitt, M.; Strenger, V.; Taylor, C.; Wheeler, P.; Temple, K.I.; Cole, T.; Douglas, J.; Rahman, N.; Amor, D.; Andries, S.; Archer, H.; Armstrong, R.; Ashton-Prolla, P.; Baralle, D.; Barnicoat, A.; Barrow, M.; Beales, P.; Becker, K.; Beckh-Arnold, E.; Berg, J.; Bernhard, B.; Bhat, M.; Birch, J.; Bitner, M.; Blair, E.; Bliek, J.; Blyth, M.; Brady, A.; Brice, G.; Brueton, L.; Burn, J.; Canham, N.; Castle, B.; Cecconi, M.; Chandler, K.; Chandrasena, R.; Cilliers, D.; Clarke, A.; Clayton-Smith, J.; Cleri 2011: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget 2(12): 1127-1133
Zhang, J.; Huang, Y.; Pan, J.; Liu, D.; Zhou, L.; Xue, W.; Chen, Q.; Dong, B.; Xuan, H. 2008: Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families. Journal of Cancer Research and Clinical Oncology 134(11): 1211-1218
Ciotti, P.; Garuti, A.; Gulli, R.; Ballestrero, A.; Bellone, E.; Mandich, P. 2009: Germline mutations in the von Hippel-Lindau gene in Italian patients. European Journal of Medical Genetics 52(5): 311-314
Oriola, J.; Lucas, T.ás.; Halperin, I.; Mora, M.; Perales, M.J.é; Alvarez-Escolá, C.; Paz, d.M.-N.; Díaz Soto, G.; Salinas, I.; Julián, M.ía.T.; Olaizola, I.; Bernabeu, I.; Marazuela, M.ón.; Puig-Domingo, M. 2013: Germline mutations of AIP gene in somatotropinomas resistant to somatostatin analogues. European Journal of Endocrinology 168(1): 9-13
Manguoğlu, E.; Güran, S.; Yamaç, D.; Colak, T.; Simşek, M.; Baykara, M.; Akaydın, M.; Lüleci, G.üv. 2010: Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients. Cancer Genetics and Cytogenetics 203(2): 230-237
Dauber, E.-M.; Kratzer, A.; Neuhuber, F.; Parson, W.; Klintschar, M.; Bär, W.; Mayr, W.R. 2012: Germline mutations of STR-alleles include multi-step mutations as defined by sequencing of repeat and flanking regions. Forensic Science International. Genetics 6(3): 381-386
Damineni, S.; Rao, V.R.; Kumar, S.; Ravuri, R.R.; Kagitha, S.; Dunna, N.R.; Digumarthi, R.; Satti, V. 2014: Germline mutations of TP53 gene in breast cancer. Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine 35(9): 9219-9227
Tournier, I.; Marlin, R.ég.; Walton, K.; Charbonnier, F.ço.; Coutant, S.; Théry, J.-C.; Charbonnier, C.; Spurrell, C.; Vezain, M.; Ippolito, L.; Bougeard, G.ël.; Roman, H.; Tinat, J.; Sabourin, J.-C.; Stoppa-Lyonnet, D.; Caron, O.; Bressac-de Paillerets, B.; Vaur, D.; King, M.-C.; Harrison, C.; Frebourg, T. 2014: Germline mutations of inhibins in early-onset ovarian epithelial tumors. Human Mutation 35(3): 294-297
Ballew, B.J.; Yeager, M.; Jacobs, K.; Giri, N.; Boland, J.; Burdett, L.; Alter, B.P.; Savage, S.A. 2013: Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Human Genetics 132(4): 473-480
Pérez, B.; Mechinaud, F.; Galambrun, C.; Ben Romdhane, N.; Isidor, B.; Philip, N.; Derain-Court, J.; Cassinat, B.; Lachenaud, J.; Kaltenbach, S.; Salmon, A.; Désirée, C.; Pereira, S.; Menot, M.L.; Royer, N.; Fenneteau, O.; Baruchel, A.; Chomienne, C.; Verloes, A.; Cavé, H. 2010: Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. Journal of Medical Genetics 47(10): 686-691
Xie, Z.M.; Li, L.S.; Laquet, C.; Penault-Llorca, F.éd.ér.; Uhrhammer, N.; Xie, X.M.; Bignon, Y.J. 2011: Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer 117(14): 3112-3117
Huang, Y.; Zhou, D.; Liu, J.; Zhou, P.; Li, X.; Wang, Z. 2012: Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease. International Journal of Molecular Medicine 29(1): 47-52
Cannella, S.; Santoro, A.; Bruno, G.; Pillon, M.; Mussolin, L.; Mangili, G.; Rosolen, A.; Aricò, M. 2007: Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma. Cancer 109(12): 2566-2571
Schneppenheim, R.; Frühwald, M.C.; Gesk, S.; Hasselblatt, M.; Jeibmann, A.; Kordes, U.; Kreuz, M.; Leuschner, I.; Martin Subero, J.I.; Obser, T.; Oyen, F.; Vater, I.; Siebert, R. 2010: Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. American Journal of Human Genetics 86(2): 279-284
Delaney, H.M.; Prauner, R.D.; Person, D.A. 2008: Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma. Journal of Pediatric Hematology/Oncology 30(11): 803-806
Hertz, D.L. 2013: Germline pharmacogenetics of paclitaxel for cancer treatment. Pharmacogenomics 14(9): 1065-1084
Desta, Z.; Flockhart, D.A. 2007: Germline pharmacogenetics of tamoxifen response: have we learned enough?. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology 25(33): 5147-5149
Tanaka, T.; Shimada, T.; Akiyoshi, H.; Zheng, C.; Mie, K.; Yijyun, L.; Hayashi, A.; Ohashi, F. 2013: Germline polymorphism at the β2-microglobulin exon 1/intron 1 splice site in canine mammary gland simple and complex carcinomas. Veterinary Record 172(20): 529
Galvan, A.; Colombo, F.; Frullanti, E.; Dassano, A.; Noci, S.; Wang, Y.; Eisen, T.; Matakidou, A.; Tomasello, L.; Vezzalini, M.; Sorio, C.; Dugo, M.; Ambrogi, F.; Iacobucci, I.; Martinelli, G.; Incarbone, M.; Alloisio, M.; Nosotti, M.; Tosi, D.; Santambrogio, L.; Pelosi, G.; Pastorino, U.; Houlston, R.S.; Dragani, T.A. 2015: Germline polymorphisms and survival of lung adenocarcinoma patients: a genome-wide study in two European patient series. International Journal of Cancer 136(5): E262-E271
Hsieh, S.M.; Lintell, N.A.; Hunter, K.W. 2006: Germline polymorphisms are potential metastasis risk and prognosis markers in breast cancer. Breast Disease 26: 157-162
Tan, P. 2008: Germline polymorphisms as modulators of cancer phenotypes. Bmc Medicine 6: 27
Ziliak, D.; O'Donnell, P.H.; Im, H.Kyung.; Gamazon, E.R.; Chen, P.; Delaney, S.; Shukla, S.; Das, S.; Cox, N.J.; Vokes, E.E.; Cohen, E.E.W.; Dolan, M.Eileen.; Huang, R.Stephanie. 2011: Germline polymorphisms discovered via a cell-based, genome-wide approach predict platinum response in head and neck cancers. Translational Research: the Journal of Laboratory and Clinical Medicine 157(5): 265-272
Grumati, P.; Dikic, I. 2014: Germline polymorphisms in RNF31 regulate linear ubiquitination and oncogenic signaling. Cancer Discovery 4(4): 394-396
Winder, T.; Ning, Y.; Yang, D.; Zhang, W.; Power, D.G.; Bohanes, P.; Gerger, A.; Wilson, P.M.; Lurje, G.; Tang, L.H.; Shah, M.; Lenz, H.-J. 2011: Germline polymorphisms in genes involved in the CD44 signaling pathway are associated with clinical outcome in localized gastric adenocarcinoma. International Journal of Cancer 129(5): 1096-1104
Winder, T.; Zhang, W.; Yang, D.; Ning, Y.; Bohanes, P.; Gerger, A.; Wilson, P.M.; Pohl, A.; Mauro, D.J.; Langer, C.; Rowinsky, E.K.; Lenz, H.-J. 2010: Germline polymorphisms in genes involved in the IGF1 pathway predict efficacy of cetuximab in wild-type KRAS mCRC patients. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research 16(22): 5591-5602
Joerger, M.; Burgers, S.A.; Baas, P.; Smit, E.F.; Haitjema, T.J.; Bard, M.P.L.; Doodeman, V.D.; Smits, P.H.M.; Vincent, A.; Huitema, A.D.R.; Beijnen, J.H.; Schellens, J.H.M. 2012: Germline polymorphisms in patients with advanced nonsmall cell lung cancer receiving first-line platinum-gemcitabine chemotherapy: a prospective clinical study. Cancer 118(9): 2466-2475
Hazra, A.; Fuchs, C.S.; Kawasaki, T.; Kirkner, G.J.; Hunter, D.J.; Ogino, S. 2010: Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer. Cancer Causes and Control: Ccc 21(3): 331-345
Spindler, K-Lise.G.; Nielsen, J.N.; Lindebjerg, J.; Jakobsen, A. 2007: Germline polymorphisms may act as predictors of response to preoperative chemoradiation in locally advanced T3 rectal tumors. Diseases of the Colon and Rectum 50(9): 1363-1369
Ueda, M.; Toji, E.; Nunobiki, O.; Sato, N.; Izuma, S.; Torii, K.; Okamoto, Y.; Noda, S. 2010: Germline polymorphisms of glutathione-S-transferase GSTM1, GSTT1 and p53 codon 72 in cervical carcinogenesis. Human Cell 23(4): 119-125
Leeb, M.; Walker, R.; Mansfield, B.; Nichols, J.; Smith, A.; Wutz, A. 2012: Germline potential of parthenogenetic haploid mouse embryonic stem cells. Development 139(18): 3301-3305
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