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GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Lemarechal C, Dollfus H, Eliot MM, Delaunoy JL, David A, Calais C, Drouin-Garraud V, Obstoy MF, Goizet C, Duriez F, Fellmann F, Hélias J, Vigneron J, Montaut B, Matin-Coignard D, Faivre L, Baumann C, Lewin P, Petit C, Denoyelle F. Marlin S, et al. Among authors: david a. Arch Otolaryngol Head Neck Surg. 2005 Jun;131(6):481-7. doi: 10.1001/archotol.131.6.481. Arch Otolaryngol Head Neck Surg. 2005. PMID: 15967879
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Among authors: david a. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
Jaillard S, Drunat S, Bendavid C, Aboura A, Etcheverry A, Journel H, Delahaye A, Pasquier L, Bonneau D, Toutain A, Burglen L, Guichet A, Pipiras E, Gilbert-Dussardier B, Benzacken B, Martin-Coignard D, Henry C, David A, Lucas J, Mosser J, David V, Odent S, Verloes A, Dubourg C. Jaillard S, et al. Among authors: david a, david v. Eur J Med Genet. 2010 Mar-Apr;53(2):66-75. doi: 10.1016/j.ejmg.2009.10.002. Epub 2009 Oct 28. Eur J Med Genet. 2010. PMID: 19878743 Free article.
Four-year follow-up of diagnostic service in USH1 patients.
Roux AF, Faugère V, Vaché C, Baux D, Besnard T, Léonard S, Blanchet C, Hamel C, Mondain M, Gilbert-Dussardier B, Edery P, Lacombe D, Bonneau D, Holder-Espinasse M, Ambrosetti U, Journel H, David A, Lina-Granade G, Malcolm S, Claustres M. Roux AF, et al. Among authors: david a. Invest Ophthalmol Vis Sci. 2011 Jun 8;52(7):4063-71. doi: 10.1167/iovs.10-6869. Invest Ophthalmol Vis Sci. 2011. PMID: 21436283
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.
Jaillard S, Andrieux J, Plessis G, Krepischi AC, Lucas J, David V, Le Brun M, Bertola DR, David A, Belaud-Rotureau MA, Mosser J, Lazaro L, Treguier C, Rosenberg C, Odent S, Dubourg C. Jaillard S, et al. Among authors: david a, david v. Am J Med Genet A. 2011 Apr;155A(4):725-31. doi: 10.1002/ajmg.a.33758. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21594994
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L. El Chehadeh S, et al. Among authors: david a. Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30. Am J Med Genet A. 2016. PMID: 26420639
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I. Barat-Houari M, et al. Among authors: david a. Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626311 Free PMC article.
3,342 results