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Page 1
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A. Cottereau E, et al. Among authors: bieth e. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18. Am J Med Genet C Semin Med Genet. 2013. PMID: 23606591 Review.
Donnai-Barrow syndrome: four additional patients.
Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E. Chassaing N, et al. Among authors: bieth e. Am J Med Genet A. 2003 Sep 1;121A(3):258-62. doi: 10.1002/ajmg.a.20266. Am J Med Genet A. 2003. PMID: 12923867 Review.
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Héron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Thauvin-Robinet C, et al. Among authors: bieth e. J Med Genet. 2006 Jan;43(1):54-61. doi: 10.1136/jmg.2004.027672. J Med Genet. 2006. PMID: 16397067 Free PMC article.
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, Vincent MC, Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-Martineau O, Cuisset JM, Vallee L, Manouvrier-Hanu S, Gaillard D, de Martinville B. Doco-Fenzy M, et al. Among authors: bieth e. Am J Med Genet A. 2008 Apr 1;146A(7):917-24. doi: 10.1002/ajmg.a.32195. Am J Med Genet A. 2008. PMID: 18327785
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frébourg T, Faivre L. Thauvin-Robinet C, et al. Among authors: bieth e. Hum Mutat. 2009 Feb;30(2):E320-9. doi: 10.1002/humu.20888. Hum Mutat. 2009. PMID: 19023858
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. Tuffery-Giraud S, et al. Among authors: bieth e. Hum Mutat. 2009 Jun;30(6):934-45. doi: 10.1002/humu.20976. Hum Mutat. 2009. PMID: 19367636
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Willems M, et al. Among authors: bieth e. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29. J Med Genet. 2010. PMID: 19643772 Free article.
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C. Saal S, et al. Among authors: bieth e. Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8. Clin Genet. 2010. PMID: 19817772
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?
Edouard T, Prost-Squarcioni C, Dulac Y, Vaysse F, Cavé H, Saugier-Veber P, Bourrouillou G, Verloes A, Tauber M, Bieth E. Edouard T, et al. Among authors: bieth e. Eur J Med Genet. 2010 Jan-Feb;53(1):29-34. doi: 10.1016/j.ejmg.2009.11.002. Epub 2009 Nov 20. Eur J Med Genet. 2010. PMID: 19932204
Twenty-five novel mutations including duplications in the ATP7A gene.
Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M. Moizard MP, et al. Among authors: bieth e. Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x. Clin Genet. 2011. PMID: 21208200
125 results