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Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, Marques-Pinheiro A, Erik Berge K, Devillers M, Luc G, Lecerf JM, Tosolini L, Erlich D, Peloso GM, Stitziel N, Nitchké P, Jaïs JP; French Research Network on ADH; Abifadel M, Kathiresan S, Leren TP, Rabès JP, Boileau C, Varret M. Marduel M, et al. Among authors: serre v. Hum Mutat. 2013 Jan;34(1):83-7. doi: 10.1002/humu.22215. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22949395 Free PMC article.
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A. Galmiche L, et al. Among authors: serre v. Hum Mutat. 2011 Nov;32(11):1225-31. doi: 10.1002/humu.21562. Epub 2011 Sep 14. Hum Mutat. 2011. PMID: 21786366
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.
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V. Dagoneau N, et al. Among authors: serre v. Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016. Am J Hum Genet. 2009. PMID: 19442771 Free PMC article.
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
Rouzier C, Chaussenot A, Serre V, Fragaki K, Bannwarth S, Ait-El-Mkadem S, Attarian S, Kaphan E, Cano A, Delmont E, Sacconi S, Mousson de Camaret B, Rio M, Lebre AS, Jardel C, Deschamps R, Richelme C, Pouget J, Chabrol B, Paquis-Flucklinger V. Rouzier C, et al. Among authors: serre v. Eur J Hum Genet. 2014 Apr;22(4):542-50. doi: 10.1038/ejhg.2013.171. Epub 2013 Aug 7. Eur J Hum Genet. 2014. PMID: 23921535 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.
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.
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.
72 results