Gilbert-Dussardier B - Search Results

1

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. 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.

2

A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.

Gilbert-Dussardier B, Rabier D, Strautnieks S, Segues B, Bonnefont JP, Munnich A. Gilbert-Dussardier B, et al. Hum Mol Genet. 1994 May;3(5):831-2. doi: 10.1093/hmg/3.5.831. Hum Mol Genet. 1994. PMID: 8081373 No abstract available.

3

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.

Chassaing N, Siani V, Carles D, Delezoide AL, Alberti EM, Battin J, Chateil JF, Gilbert-Dussardier B, Coupry I, Arveiler B, Saura R, Lacombe D. Chassaing N, et al. Am J Med Genet A. 2005 Aug 1;136A(4):307-12. doi: 10.1002/ajmg.a.30570. Am J Med Genet A. 2005. PMID: 16001442

4

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de Brouwer AP, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T. Poirier K, et al. Neurogenetics. 2006 Mar;7(1):39-46. doi: 10.1007/s10048-005-0014-0. Epub 2005 Oct 19. Neurogenetics. 2006. PMID: 16235064

5

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S; French Rendu-Osler Network. Lesca G, et al. Hum Mutat. 2006 Jun;27(6):598. doi: 10.1002/humu.9421. Hum Mutat. 2006. PMID: 16705692

6

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.

Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P. Chassaing N, et al. Am J Med Genet A. 2007 Feb 1;143A(3):289-91. doi: 10.1002/ajmg.a.31524. Am J Med Genet A. 2007. PMID: 17219395 No abstract available.

7

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

Lesca G, Olivieri C, Burnichon N, Pagella F, Carette MF, Gilbert-Dussardier B, Goizet C, Roume J, Rabilloud M, Saurin JC, Cottin V, Honnorat J, Coulet F, Giraud S, Calender A, Danesino C, Buscarini E, Plauchu H; French-Italian-Rendu-Osler Network. Lesca G, et al. Genet Med. 2007 Jan;9(1):14-22. doi: 10.1097/gim.0b013e31802d8373. Genet Med. 2007. PMID: 17224686 Free article.

8

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. 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.

9

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carrière JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C. Calvo J, et al. Arch Neurol. 2009 Dec;66(12):1511-6. doi: 10.1001/archneurol.2009.284. Arch Neurol. 2009. PMID: 20008656

10

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.

Simon D, Laloo B, Barillot M, Barnetche T, Blanchard C, Rooryck C, Marche M, Burgelin I, Coupry I, Chassaing N, Gilbert-Dussardier B, Lacombe D, Grosset C, Arveiler B. Simon D, et al. Hum Mol Genet. 2010 May 15;19(10):2015-27. doi: 10.1093/hmg/ddq083. Epub 2010 Feb 24. Hum Mol Genet. 2010. PMID: 20181727

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