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211 results

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Page 1
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Rouxel F, Relator R, Kerkhof J, McConkey H, Levy M, Dias P, Barat-Houari M, Bednarek N, Boute O, Chatron N, Cherik F, Delahaye-Duriez A, Doco-Fenzy M, Faivre L, Gauthier LW, Heron D, Hildebrand MS, Lesca G, Lespinasse J, Mazel B, Menke LA, Morgan AT, Pinson L, Quelin C, Rossi M, Ruiz-Pallares N, Tran-Mau-Them F, Van Kessel IN, Vincent M, Weber M, Willems M, Leguyader G, Sadikovic B, Genevieve D. Rouxel F, et al. Among authors: genevieve d. Genet Med. 2022 May;24(5):1096-1107. doi: 10.1016/j.gim.2021.12.016. Epub 2022 Jan 19. Genet Med. 2022. PMID: 35063350 Free 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.
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
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: genevieve d. 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.
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.
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.
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, Girard M, Tournaire M, Jorgensen C, Morin D, Sarda P, Lefort G, Geneviève D. Amouroux C, et al. Among authors: genevieve d. Eur J Hum Genet. 2012 May;20(5):580-3. doi: 10.1038/ejhg.2011.243. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258531 Free PMC article.
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D. Tran Mau-Them F, et al. Among authors: genevieve d. Eur J Hum Genet. 2014 Feb;22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15. Eur J Hum Genet. 2014. PMID: 23674175 Free PMC article.
211 results