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WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. Among authors: valduga m. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
Prenatal diagnosis of mosaicism for 11q terminal deletion.
Valduga M, Cannard VL, Philippe C, Romana S, Miton A, Droulle P, Foliguet B, Lecompte T, Jonveaux P. Valduga M, et al. Eur J Med Genet. 2007 Nov-Dec;50(6):475-81. doi: 10.1016/j.ejmg.2007.06.002. Epub 2007 Jul 17. Eur J Med Genet. 2007. PMID: 17761465
MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.
Lambert L, Bienvenu T, Allou L, Valduga M, Echenne B, Diebold B, Mignot C, Héron D, Roth V, Saunier A, Moustaïne A, Jonveaux P, Philippe C. Lambert L, et al. Among authors: valduga m. Clin Genet. 2012 Nov;82(5):499-501. doi: 10.1111/j.1399-0004.2012.01861.x. Epub 2012 Mar 26. Clin Genet. 2012. PMID: 22449245 No abstract available.
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A. El Khattabi L, et al. Among authors: valduga m. Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351778 Free PMC article.
25 results