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Exclusion of two regional candidates in MFS2, the second gene implicated in Marfan syndrome


, : Exclusion of two regional candidates in MFS2, the second gene implicated in Marfan syndrome. American Journal of Human Genetics 73(5): 561, November



Accession: 034895273

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Collod Beroud, G.; Dahan, K.; Boutterin, M.C.; Mouiseddine, M.; Jondeau, G.; Delorme, G.; Dubourg, O.; Bourdarias, J.P.; Junien, C.; Boileau, C., 2002: The MFS2 gene, the second gene implicated in Marfan syndrome, is now located in a region of 500KB. American Journal of Human Genetics 71(4 Supplement): 525, October

Boileau, C.; Dahan, K.; Boutterin, M.C.; Jondeau, G.; Dubourg, O.; Bourdarias, J.P.; Junien, C.; Beroud, G.C.llod, 2001: In search of MFS2 gene, the second gene implicated in Marfan syndrome. American Journal of Human Genetics 69(4 Supplement): 617, October

Collod Beroud, G.; Jondeau, G.; Coulon, M.; Delorme, G.; Dubourg, O.; Bourdarias, J.P.erre; Juniem, C.; Boileau, C., 1999: The MFS2 gene is now located in an interval of 14 Mb and its mutations are associated with the classic adult form of Marfan syndrome. Circulation 100(18 SUPPL ): I 216, Nov 2

Collod, G.; Chu, M.L.; Coulon, M.; Timpl, R.; Sasaki, T.; Jondeau, G.; Bourdarias, J.P.; Junien, C.; Boileau, C., 1995: Exclusion of the fibulin-2 gene at 3p242p25 as the second locus for Marfan syndrome. American Journal of Human Genetics 57(4 SUPPL ): A210

Tsipouras, P.; Børresen, A.L.; Bamforth, S.; Harper, P.S.; Berg, K., 1986: Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. Marfan Syndrome is a genetic disorder of the connective tissue. Individuals from one large family with this disorder were genotyped for COL1A2 gene associated RFLPs. Our results demonstrated that the COL1A2 gene, encoding the proa2(I) collagen cha...

Collod, G.; Chu, M.L.; Sasaki, T.; Coulon, M.; Timpl, R.; Renkart, L.; Weissenbach, J.; Jondeau, G.; Bourdarias, J.P.; Junien, C.; Boileau, C., 1996: Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. Fibulin-2 (FBLN2) is a new extracellular matrix protein that has been considered a candidate gene for Marfan syndrome type 2 (locus MFS2) based on chromosomal colocation at 3p24.2-p25 and disease phenotype. In the absence of polymorphic markers re...

de Leng, W.W.J.; Jansen, M.; Carvalho, R.; Polak, M.; Musler, A.R.; Milne, A.N.A.; Keller, J.J.; Menko, F.H.; de Rooij, F.W.M.; Iacobuzio-Donahue, C.A.; Giardiello, F.M.; Weterman, M.A.J.; Offerhaus, G.J.A., 2007: Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates. LKB1/STK11 germline inactivations are identified in the majority (66-94%) of Peutz-Jeghers syndrome (PJS) patients. Therefore, defects in other genes or so far unidentified ways of LKB1 inactivation may cause PJS. The genes encoding the MARK prote...

Benke, Kálmán.; Ágg, B.; Mátyás, Gábor.; Szokolai, V.; Harsányi, G.; Szilveszter, Bálint.; Odler, Bázs.; Pólos, Mós.; Maurovich-Horvat, Pál.; Radovits, Tás.; Merkely, Béla.; Nagy, Z.B.; Szabolcs, Zán., 2016: Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome. Folic acid metabolism enzyme polymorphisms are believed to be responsible for the elevation of homocysteine (HCY) concentration in the blood plasma, correlating with the pathogenesis of aortic aneurysms and aortic dissection. We studied 71 Marfan...

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