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Page 1
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P. Chassaing N, et al. Among authors: vigouroux a. Clin Genet. 2014 Oct;86(4):326-34. doi: 10.1111/cge.12275. Epub 2013 Oct 7. Clin Genet. 2014. PMID: 24033328
Confirmation of RAX gene involvement in human anophthalmia.
Lequeux L, Rio M, Vigouroux A, Titeux M, Etchevers H, Malecaze F, Chassaing N, Calvas P. Lequeux L, et al. Among authors: vigouroux a. Clin Genet. 2008 Oct;74(4):392-5. doi: 10.1111/j.1399-0004.2008.01078.x. Epub 2008 Sep 9. Clin Genet. 2008. PMID: 18783408 Free PMC article.
OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. Chassaing N, et al. Among authors: vigouroux a. J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10. J Med Genet. 2012. PMID: 22577225
[Evolution of genetic testing techniques].
Vigouroux A, Chassaing N. Vigouroux A, et al. Arch Pediatr. 2009 Jun;16(6):915-7. doi: 10.1016/S0929-693X(09)74202-2. Arch Pediatr. 2009. PMID: 19541220 French. No abstract available.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S. Miguet M, et al. Among authors: vigouroux a. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618507 Free article.
Novel B3GALTL mutation in Peters-plus Syndrome.
Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N. Dassie-Ajdid J, et al. Among authors: vigouroux a. Clin Genet. 2009 Nov;76(5):490-2. doi: 10.1111/j.1399-0004.2009.01253.x. Epub 2009 Sep 30. Clin Genet. 2009. PMID: 19796186 No abstract available.
78 results