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677 results

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Page 1
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, Kaplan J, Benachi A, Lacombe D, Sonigo P, Drunat S, Vekemans M, Agenor J, Encha Razavi F, Attie-Bitach T. Chartier S, et al. Among authors: lacombe d. Birth Defects Res. 2018 Apr 17;110(7):598-602. doi: 10.1002/bdr2.1204. Epub 2018 Jan 22. Birth Defects Res. 2018. PMID: 29356416
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S. Amiel J, et al. Among authors: lacombe d. Am J Hum Genet. 2001 Dec;69(6):1370-7. doi: 10.1086/324342. Epub 2001 Oct 10. Am J Hum Genet. 2001. PMID: 11595972 Free PMC article.
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. Among authors: lacombe d. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossée M, Dollfus H. Hichri H, et al. Among authors: lacombe d. Eur J Hum Genet. 2005 May;13(5):607-16. doi: 10.1038/sj.ejhg.5201372. Eur J Hum Genet. 2005. PMID: 15770229
Eight previously unidentified mutations found in the OA1 ocular albinism gene.
Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M. Mayeur H, et al. Among authors: lacombe d. BMC Med Genet. 2006 Apr 28;7:41. doi: 10.1186/1471-2350-7-41. BMC Med Genet. 2006. PMID: 16646960 Free PMC article.
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
Malan V, Chevallier S, Soler G, Coubes C, Lacombe D, Pasquier L, Soulier J, Morichon-Delvallez N, Turleau C, Munnich A, Romana S, Vekemans M, Cormier-Daire V, Colleaux L. Malan V, et al. Among authors: lacombe d. Eur J Hum Genet. 2010 Feb;18(2):227-32. doi: 10.1038/ejhg.2009.162. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844265 Free PMC article.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J. Gordon CT, et al. Among authors: lacombe d. J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173. J Med Genet. 2012. PMID: 23188108
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attié-Bitach T, Thauvin-Robinet C. Darmency-Stamboul V, et al. Among authors: lacombe d. Eur J Med Genet. 2013 Jun;56(6):301-8. doi: 10.1016/j.ejmg.2013.03.004. Epub 2013 Mar 21. Eur J Med Genet. 2013. PMID: 23523602
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Morice-Picard F, Lasseaux E, Cailley D, Gros A, Toutain J, Plaisant C, Simon D, François S, Gilbert-Dussardier B, Kaplan J, Rooryck C, Lacombe D, Arveiler B. Morice-Picard F, et al. Among authors: lacombe d. Pigment Cell Melanoma Res. 2014 Jan;27(1):59-71. doi: 10.1111/pcmr.12173. Epub 2013 Oct 23. Pigment Cell Melanoma Res. 2014. PMID: 24118800 Clinical Trial.
C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T. Lopez E, et al. Among authors: lacombe d. Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1. Hum Genet. 2014. PMID: 24178751
677 results