Lesca G - Search Results

1

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C. Husson T, et al. Among authors: lesca g. Eur J Hum Genet. 2024 Feb;32(2):190-199. doi: 10.1038/s41431-023-01474-x. Epub 2023 Oct 23. Eur J Hum Genet. 2024. PMID: 37872275 Free PMC article.

2

Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia.

Lesca G, Goizet C, Dürr A. Lesca G, et al. J Med Genet. 2002 Jul;39(7):522-5. doi: 10.1136/jmg.39.7.522. J Med Genet. 2002. PMID: 12114488 Free PMC article. No abstract available.

3

Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias.

Goizet C, Lesca G, Dürr A; French Group for Presymptomatic Testing in Neurogenetic Disorders. Goizet C, et al. Among authors: lesca g. Neurology. 2002 Nov 12;59(9):1330-6. doi: 10.1212/01.wnl.0000032255.75650.c2. Neurology. 2002. PMID: 12427879

4

Clinical, cytogenetic, and molecular description of a FRAXE French family.

Lesca G, Biancalana V, Brunel MJ, Quack B, Calender A, Lespinasse J. Lesca G, et al. Psychiatr Genet. 2003 Mar;13(1):43-6. doi: 10.1097/00041444-200303000-00007. Psychiatr Genet. 2003. PMID: 12605100

5

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S; French Rendu-Osler Network. Lesca G, et al. Hum Mutat. 2004 Apr;23(4):289-99. doi: 10.1002/humu.20017. Hum Mutat. 2004. PMID: 15024723

6

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T. Philippe C, et al. Among authors: lesca g. Eur J Med Genet. 2006 Jan-Feb;49(1):9-18. doi: 10.1016/j.ejmg.2005.04.003. Eur J Med Genet. 2006. PMID: 16473305

7

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S; French Rendu-Osler Network. Lesca G, et al. Hum Mutat. 2006 Jun;27(6):598. doi: 10.1002/humu.9421. Hum Mutat. 2006. PMID: 16705692

8

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

Lesca G, Bernard V, Bozon M, Touraine R, Gérard D, Edery P, Calender A. Lesca G, et al. Eur J Med Genet. 2007 May-Jun;50(3):200-8. doi: 10.1016/j.ejmg.2007.02.001. Epub 2007 Feb 20. Eur J Med Genet. 2007. PMID: 17383248

9

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

Lesca G, Till M, Labalme A, Vallee D, Hugonenq C, Philip N, Edery P, Sanlaville D. Lesca G, et al. Am J Med Genet A. 2011 Jul;155A(7):1706-11. doi: 10.1002/ajmg.a.34004. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626670

10

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, Lesca G, Boutry-Kryza N, Rossignol S, Rocas D, Dubruc E, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: lesca g. J Med Genet. 2013 Mar;50(3):144-50. doi: 10.1136/jmedgenet-2012-101351. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315544

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