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221 results

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Page 1
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Geneviève D, Capri Y, Perrin L, Fabre-Teste J, Timbolschi D, Verloes A, Olaso R, Boland A, Deleuze JF, Mandel JL, Gerard B, Giurgea I. Mary L, et al. Among authors: genevieve d. Eur J Hum Genet. 2018 Jul;26(7):996-1006. doi: 10.1038/s41431-018-0096-4. Epub 2018 Apr 26. Eur J Hum Genet. 2018. PMID: 29695756 Free PMC article.
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.
Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, Picq M, Munnich A, Romana S, de Blois M, Vekemans M. Genevieve D, et al. Am J Med Genet A. 2003 Jan 1;116A(1):90-3. doi: 10.1002/ajmg.a.10877. Am J Med Genet A. 2003. PMID: 12476459 Review.
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N. Navarro CL, et al. Among authors: genevieve d. Hum Mol Genet. 2004 Oct 15;13(20):2493-503. doi: 10.1093/hmg/ddh265. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317753
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, Verloes A, Viot G, Romana S, Munnich A, Lyonnet S, Vekemans M, Turleau C. Sanlaville D, et al. Among authors: genevieve d. Eur J Hum Genet. 2005 May;13(5):690-3. doi: 10.1038/sj.ejhg.5201383. Eur J Hum Genet. 2005. PMID: 15770228 Review.
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
Geneviève D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, Boustani-Samara D, Pinto G, Ozilou C, Abeguilé G, Munnich A, Romana S, Raoul O, Cormier-Daire V, Vekemans M. Geneviève D, et al. Eur J Hum Genet. 2005 Sep;13(9):1033-9. doi: 10.1038/sj.ejhg.5201448. Eur J Hum Genet. 2005. PMID: 15915160
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.
Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, Genevieve D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaudy S, Verloes A, Sarnacki S, Munnich A, Vekemans M, Lyonnet S, Etchevers H, Amiel J, de Pontual L. Cognet M, et al. Among authors: genevieve d. Eur J Hum Genet. 2011 May;19(5):602-6. doi: 10.1038/ejhg.2010.225. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224895 Free PMC article.
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V. Allali S, et al. Among authors: genevieve d. J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415077 Free PMC article.
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.
de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Geneviève D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J. de Pontual L, et al. Among authors: genevieve d. Nat Genet. 2011 Sep 4;43(10):1026-30. doi: 10.1038/ng.915. Nat Genet. 2011. PMID: 21892160 Free PMC article.
221 results