Edery P - Search Results

1

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Boutry-Kryza N, Ville D, Labalme A, Calender A, Dupont JM, Touraine R, Edery P, des Portes V, Sanlaville D, Lesca G. Boutry-Kryza N, et al. Among authors: edery p. Am J Med Genet A. 2014 Aug;164A(8):2025-8. doi: 10.1002/ajmg.a.36547. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715584

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. Among authors: edery p. Arch Pediatr. 2001 Sep;8(9):957-60. doi: 10.1016/s0929-693x(01)00561-9. Arch Pediatr. 2001. PMID: 11582937 French.

3

Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24.

Verot L, Alloisio N, Morlé L, Bozon M, Touraine R, Plauchu H, Edery P. Verot L, et al. Among authors: edery p. Am J Med Genet A. 2003 Sep 15;122A(1):37-41. doi: 10.1002/ajmg.a.20221. Am J Med Genet A. 2003. PMID: 12949969

4

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. Among authors: edery p. 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.

5

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

Leutenegger AL, Labalme A, Genin E, Toutain A, Steichen E, Clerget-Darpoux F, Edery P. Leutenegger AL, et al. Among authors: edery p. Am J Hum Genet. 2006 Jul;79(1):62-6. doi: 10.1086/504640. Epub 2006 Apr 28. Am J Hum Genet. 2006. PMID: 16773566 Free PMC article.

6

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P. Badens C, et al. Among authors: edery p. Am J Med Genet A. 2006 Oct 15;140(20):2212-5. doi: 10.1002/ajmg.a.31400. Am J Med Genet A. 2006. PMID: 16955409

7

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. Among authors: edery p. 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

8

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: edery p. 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

9

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.

Schluth-Bolard C, Till M, Labalme A, Rey C, Banquart E, Fautrelle A, Martin-Denavit T, Le Lorc'h M, Romana SP, Lazar V, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: edery p. Eur J Med Genet. 2008 Mar-Apr;51(2):156-64. doi: 10.1016/j.ejmg.2007.12.003. Epub 2007 Dec 24. Eur J Med Genet. 2008. PMID: 18255367

10

[New chromosomal syndromes].

Schluth-Bolard C, Till M, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: edery p. Pathol Biol (Paris). 2008 Sep;56(6):380-7. doi: 10.1016/j.patbio.2008.03.006. Epub 2008 May 7. Pathol Biol (Paris). 2008. PMID: 18467039 Review. French.

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