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Page 1
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Mercier S, Toutain A, Toussaint A, Raynaud M, de Barace C, Marcorelles P, Pasquier L, Blayau M, Espil C, Parent P, Journel H, Lazaro L, Andoni Urtizberea J, Moerman A, Faivre L, Eymard B, Maincent K, Gherardi R, Chaigne D, Ben Yaou R, Leturcq F, Chelly J, Desguerre I. Mercier S, et al. Among authors: blayau m. Eur J Hum Genet. 2013 Aug;21(8):855-63. doi: 10.1038/ejhg.2012.269. Epub 2013 Jan 9. Eur J Hum Genet. 2013. PMID: 23299919 Free PMC article.
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. Tuffery-Giraud S, et al. Among authors: blayau m. Hum Mutat. 2009 Jun;30(6):934-45. doi: 10.1002/humu.20976. Hum Mutat. 2009. PMID: 19367636
[Genetic study of holoprosencephaly].
Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou MR, Odent S, David V. Dubourg C, et al. Among authors: blayau m. Ann Biol Clin (Paris). 2003 Nov-Dec;61(6):679-87. Ann Biol Clin (Paris). 2003. PMID: 14711609 Free article. French.
Phenotypic and molecular variability of the holoprosencephalic spectrum.
Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintière AT, Aguilella C, David V, Odent S. Lazaro L, et al. Among authors: blayau m. Am J Med Genet A. 2004 Aug 15;129A(1):21-4. doi: 10.1002/ajmg.a.30110. Am J Med Genet A. 2004. PMID: 15266610
Highlighting the impact of cascade carrier testing in cystic fibrosis families.
Duguépéroux I, L'Hostis C, Audrézet MP, Rault G, Frachon I, Bernard R, Parent P, Blayau M, Schmitt S, Génin E, Férec C, Scotet V. Duguépéroux I, et al. Among authors: blayau m. J Cyst Fibros. 2016 Jul;15(4):452-9. doi: 10.1016/j.jcf.2016.02.013. Epub 2016 Mar 22. J Cyst Fibros. 2016. PMID: 27013383 Free article.
61 results