Lesca G - Search Results

1

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

Houdayer F, Gargiulo M, Frischmann M, Labalme A, Decullier E, Cordier MP, Dupuis-Girod S, Lesca G, Till M, Sanlaville D, Edery P, Rossi M. Houdayer F, et al. Among authors: lesca g. Eur J Med Genet. 2013 Nov;56(11):585-90. doi: 10.1016/j.ejmg.2013.09.002. Epub 2013 Sep 17. Eur J Med Genet. 2013. PMID: 24055527

2

[Diagnostic trap and difficulties of genetic counseling in a family with neuromuscular disease carriers].

Lesca G, Ollagnon-Roman E, Lachanat J, Dusser A, Edery P, Jeanpierre M, Plauchu H. Lesca G, et al. Arch Pediatr. 2001 Sep;8(9):957-60. doi: 10.1016/s0929-693x(01)00561-9. Arch Pediatr. 2001. PMID: 11582937 French.

3

Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation.

Lesca G, Sinilnikova O, Theuil G, Blanc J, Edery P, Till M. Lesca G, et al. Clin Genet. 2005 Apr;67(4):367-8. doi: 10.1111/j.1399-0004.2005.00417.x. Clin Genet. 2005. PMID: 15733277 No abstract available.

4

Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association.

Dupuis-Girod S, Giraud S, Decullier E, Lesca G, Cottin V, Faure F, Merrot O, Saurin JC, Cordier JF, Plauchu H. Dupuis-Girod S, et al. Among authors: lesca g. Clin Infect Dis. 2007 Mar 15;44(6):841-5. doi: 10.1086/511645. Epub 2007 Feb 1. Clin Infect Dis. 2007. PMID: 17304458

5

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

6

Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).

Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. Cottin V, et al. Among authors: lesca g. Respiration. 2007;74(4):361-78. doi: 10.1159/000103205. Respiration. 2007. PMID: 17641482 Review.

7

Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases.

Curie A, Lesca G, Cottin V, Edery P, Bellon G, Faughnan ME, Plauchu H. Curie A, et al. Among authors: lesca g. J Pediatr. 2007 Sep;151(3):299-306. doi: 10.1016/j.jpeds.2007.03.021. Epub 2007 Jul 25. J Pediatr. 2007. PMID: 17719943

8

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H; French-Italian HHT Network. Lesca G, et al. Eur J Hum Genet. 2008 Jun;16(6):742-9. doi: 10.1038/ejhg.2008.3. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285823

9

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences.

Gincul R, Lesca G, Gelas-Dore B, Rollin N, Barthelet M, Dupuis-Girod S, Pilleul F, Giraud S, Plauchu H, Saurin JC. Gincul R, et al. Among authors: lesca g. Hepatology. 2008 Nov;48(5):1570-6. doi: 10.1002/hep.22514. Hepatology. 2008. PMID: 18972447

10

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

Roll P, Sanlaville D, Cillario J, Labalme A, Bruneau N, Massacrier A, Délepine M, Dessen P, Lazar V, Robaglia-Schlupp A, Lesca G, Jouve E, Rudolf G, Rochette J, Lathrop GM, Szepetowski P. Roll P, et al. Among authors: lesca g. PLoS One. 2010 Oct 29;5(10):e13750. doi: 10.1371/journal.pone.0013750. PLoS One. 2010. PMID: 21060786 Free PMC article.

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