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72 results

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Page 1
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, Attié-Bitach T. Thomas S, et al. Among authors: serre v. Eur J Hum Genet. 2015 May;23(5):621-7. doi: 10.1038/ejhg.2014.156. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138100 Free PMC article.
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A. Mollet J, et al. Among authors: serre v. Am J Hum Genet. 2008 Mar;82(3):623-30. doi: 10.1016/j.ajhg.2007.12.022. Am J Hum Genet. 2008. PMID: 18319072 Free PMC article.
Toward genotype phenotype correlations in GFM1 mutations.
Galmiche L, Serre V, Beinat M, Zossou R, Assouline Z, Lebre AS, Chretien F, Shenhav R, Zeharia A, Saada A, Vedrenne V, Boddaert N, de Lonlay P, Rio M, Munnich A, Rötig A. Galmiche L, et al. Among authors: serre v. Mitochondrion. 2012 Mar;12(2):242-7. doi: 10.1016/j.mito.2011.09.007. Epub 2011 Oct 1. Mitochondrion. 2012. PMID: 21986555
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rötig A. Vedrenne V, et al. Among authors: serre v. Am J Hum Genet. 2012 Nov 2;91(5):912-8. doi: 10.1016/j.ajhg.2012.09.001. Epub 2012 Oct 18. Am J Hum Genet. 2012. PMID: 23084291 Free PMC article.
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM. Fares-Taie L, et al. Among authors: serre v. Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9. Am J Hum Genet. 2013. PMID: 23312594 Free PMC article.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traoré M, Habarou F, Bole-Feysot C, Nitschké P, Ottolenghi C, Metodiev MD, Serre V, Desguerre I, Boddaert N, Hermine O, Munnich A, Rötig A. Drecourt A, et al. Among authors: serre v. Am J Hum Genet. 2018 Feb 1;102(2):266-277. doi: 10.1016/j.ajhg.2018.01.003. Am J Hum Genet. 2018. PMID: 29395073 Free PMC article.
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S. Alby C, et al. Among authors: serre v. Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684. Am J Med Genet A. 2018. PMID: 29681083
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM. Hanein S, et al. Among authors: serre v. Am J Hum Genet. 2009 Apr;84(4):493-8. doi: 10.1016/j.ajhg.2009.03.003. Epub 2009 Mar 26. Am J Hum Genet. 2009. PMID: 19327736 Free PMC article.
72 results