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Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
Bruel AL, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, Lehalle D, Tran Mau-Them F, Philippe C, Moutton S, Houcinat N, Gay S, Guibaud L, Duffourd Y, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: faivre l. Clin Genet. 2018 Jul;94(1):182-184. doi: 10.1111/cge.13211. Epub 2018 Mar 2. Clin Genet. 2018. PMID: 29498412 No abstract available.
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. Among authors: faivre l. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.
Unique survival in chrondrodysplasia-hermaphrodism syndrome.
Thauvin-Robinet C, Mugneret F, Callier P, Chouchane M, Garron E, Manceau E, Laurent N, Durand C, Nivelon-Chevallier A, Sapin E, Huet F, Faivre L. Thauvin-Robinet C, et al. Among authors: faivre l. Am J Med Genet A. 2005 Jan 30;132A(3):335-7. doi: 10.1002/ajmg.a.30417. Am J Med Genet A. 2005. PMID: 15578577 No abstract available.
Severe lactic acidosis and acute thiamin deficiency: a report of 11 neonates with unsupplemented total parenteral nutrition.
Thauvin-Robinet C, Faivre L, Barbier ML, Chevret L, Bourgeois J, Netter JC, Grimaldi M, Geneviève D, Ogier de Baulny H, Huet F, Saudubray JM, Gouyon JB. Thauvin-Robinet C, et al. Among authors: faivre l. J Inherit Metab Dis. 2004;27(5):700-4. doi: 10.1023/b:boli.0000043017.90837.93. J Inherit Metab Dis. 2004. PMID: 15669689 No abstract available.
758 results