Bieth E - Search Results

1

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.

2

Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome.

De Mas P, Chassaing N, Chaix Y, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E. De Mas P, et al. Among authors: bieth e. J Med Genet. 2002 Apr;39(4):e17. doi: 10.1136/jmg.39.4.e17. J Med Genet. 2002. PMID: 11950869 Free PMC article. No abstract available.

3

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.

Reboul MP, Bieth E, Fayon M, Biteau N, Barbier R, Dromer C, Desgeorges M, Claustres M, Bremont F, Lacombe D, Iron A. Reboul MP, et al. Among authors: bieth e. J Med Genet. 2002 Nov;39(11):e73. doi: 10.1136/jmg.39.11.e73. J Med Genet. 2002. PMID: 12414835 Free PMC article. No abstract available.

4

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype.

Chassaing N, De Mas P, Tauber M, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E. Chassaing N, et al. Among authors: bieth e. Am J Med Genet A. 2004 Aug 1;128A(4):410-3. doi: 10.1002/ajmg.a.30199. Am J Med Genet A. 2004. PMID: 15264288

5

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Kantarci S, et al. Among authors: bieth e. Nat Genet. 2007 Aug;39(8):957-9. doi: 10.1038/ng2063. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632512 Free PMC article.

6

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N. Plaisancié J, et al. Among authors: bieth e. Am J Med Genet A. 2013 Apr;161A(4):671-8. doi: 10.1002/ajmg.a.35747. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401279

7

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.

8

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B. Morice-Picard F, et al. Among authors: bieth e. J Invest Dermatol. 2014 Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. J Invest Dermatol. 2014. PMID: 23985994 Free article. No abstract available.

9

Distal 10q monosomy: new evidence for a neurobehavioral condition?

Plaisancié J, Bouneau L, Cances C, Garnier C, Benesteau J, Leonard S, Bourrouillou G, Calvas P, Vigouroux A, Julia S, Bieth E. Plaisancié J, et al. Among authors: bieth e. Eur J Med Genet. 2014 Jan;57(1):47-53. doi: 10.1016/j.ejmg.2013.11.002. Epub 2013 Nov 23. Eur J Med Genet. 2014. PMID: 24275544

10

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.

Vuillaume ML, Naudion S, Banneau G, Diene G, Cartault A, Cailley D, Bouron J, Toutain J, Bourrouillou G, Vigouroux A, Bouneau L, Nacka F, Kieffer I, Arveiler B, Knoll-Gellida A, Babin PJ, Bieth E, Jouret B, Julia S, Sarda P, Geneviève D, Faivre L, Lacombe D, Barat P, Tauber M, Delrue MA, Rooryck C. Vuillaume ML, et al. Among authors: bieth e. Am J Med Genet A. 2014 Aug;164A(8):1965-75. doi: 10.1002/ajmg.a.36587. Epub 2014 Apr 29. Am J Med Genet A. 2014. PMID: 24782328

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