Edery P - Search Results

1

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. Mignot C, et al. Among authors: edery p. Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Genet Med. 2019. PMID: 30206421 Free PMC article.

2

[Identification of mutation of RET proto-oncogene in Hirschsprung disease].

Attié T, Edery P, Lyonnet S, Nihoul-Fékété C, Munnich A. Attié T, et al. Among authors: edery p. C R Seances Soc Biol Fil. 1994;188(5-6):499-504. C R Seances Soc Biol Fil. 1994. PMID: 7780793 Review. French.

3

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.

Edery P, Manach Y, Le Merrer M, Till M, Vignal A, Lyonnet S, Munnich A. Edery P, et al. Am J Med Genet. 1994 Aug 15;52(2):174-7. doi: 10.1002/ajmg.1320520210. Am J Med Genet. 1994. PMID: 7802004

4

RET in human development and oncogenesis.

Edery P, Eng C, Munnich A, Lyonnet S. Edery P, et al. Bioessays. 1997 May;19(5):389-95. doi: 10.1002/bies.950190506. Bioessays. 1997. PMID: 9174404 Review.

5

Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.

Faivre L, Radford I, Viot G, Edery P, Munnich A, Tardieu M, Vekemans M. Faivre L, et al. Among authors: edery p. Ann Genet. 2000 Jan-Mar;43(1):35-8. doi: 10.1016/s0003-3995(00)00016-2. Ann Genet. 2000. PMID: 10818219

6

[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.

7

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: edery p. 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.

8

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.

9

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays.

Pasquier L, Laugel V, Lazaro L, Dollfus H, Journel H, Edery P, Goldenberg A, Martin D, Heron D, Le Merrer M, Rustin P, Odent S, Munnich A, Sarasin A, Cormier-Daire V. Pasquier L, et al. Among authors: edery p. Arch Dis Child. 2006 Feb;91(2):178-82. doi: 10.1136/adc.2005.080473. Arch Dis Child. 2006. PMID: 16428367 Free PMC article.

10

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

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