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Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
Bonnet C, Masurel-Paulet A, Khan AA, Béri-Dexheimer M, Callier P, Mugneret F, Philippe C, Thauvin-Robinet C, Faivre L, Jonveaux P. Bonnet C, et al. Among authors: faivre l. Hum Mutat. 2012 Feb;33(2):355-8. doi: 10.1002/humu.21649. Epub 2011 Nov 28. Hum Mutat. 2012. Retraction in: Hum Mutat. 2020 Apr;41(4):860. doi: 10.1002/humu.23991 PMID: 22124977 Retracted.
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.
Prenatal diagnosis of Juberg-Hayward syndrome.
Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, Sagot P. Couvreur-Lionnais S, et al. Among authors: faivre l. Prenat Diagn. 2005 Feb;25(2):172-5. doi: 10.1002/pd.943. Prenat Diagn. 2005. PMID: 15712337
758 results