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Page 1
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K. Guicheney P, et al. Among authors: hainque b. J Med Genet. 1998 Mar;35(3):211-7. doi: 10.1136/jmg.35.3.211. J Med Genet. 1998. PMID: 9541105 Free PMC article.
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.
Carrier L, Bonne G, Bährend E, Yu B, Richard P, Niel F, Hainque B, Cruaud C, Gary F, Labeit S, Bouhour JB, Dubourg O, Desnos M, Hagège AA, Trent RJ, Komajda M, Fiszman M, Schwartz K. Carrier L, et al. Among authors: hainque b. Circ Res. 1997 Mar;80(3):427-34. Circ Res. 1997. PMID: 9048664
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
Tesson F, Richard P, Charron P, Mathieu B, Cruaud C, Carrier L, Dubourg O, Lautié N, Desnos M, Millaire A, Isnard R, Hagege AA, Bouhour JB, Bennaceur M, Hainque B, Guicheney P, Schwartz K, Komajda M. Tesson F, et al. Among authors: hainque b. Hum Mutat. 1998;12(6):385-92. doi: 10.1002/(SICI)1098-1004(1998)12:6<385::AID-HUMU4>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9829907
First description of germline mosaicism in familial hypertrophic cardiomyopathy.
Forissier JF, Richard P, Briault S, Ledeuil C, Dubourg O, Charbonnier B, Carrier L, Moraine C, Bonne G, Komajda M, Schwartz K, Hainque B. Forissier JF, et al. Among authors: hainque b. J Med Genet. 2000 Feb;37(2):132-4. doi: 10.1136/jmg.37.2.132. J Med Genet. 2000. PMID: 10662815 Free PMC article.
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
Richard P, Gaudon K, Andreux F, Yasaki E, Prioleau C, Bauché S, Barois A, Ioos C, Mayer M, Routon MC, Mokhtari M, Leroy JP, Fournier E, Hainque B, Koenig J, Fardeau M, Eymard B, Hantaï D. Richard P, et al. Among authors: hainque b. J Med Genet. 2003 Jun;40(6):e81. doi: 10.1136/jmg.40.6.e81. J Med Genet. 2003. PMID: 12807980 Free PMC article. No abstract available.
96 results