Edery P - Search Results

1

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB. Kuentz P, et al. Among authors: edery p. Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151489 Free article.

2

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

Attié T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A, et al. Attié T, et al. Among authors: edery p. Hum Mol Genet. 1995 Aug;4(8):1381-6. doi: 10.1093/hmg/4.8.1381. Hum Mol Genet. 1995. PMID: 7581377

3

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).

Edery P, Attié T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S. Edery P, et al. Nat Genet. 1996 Apr;12(4):442-4. doi: 10.1038/ng0496-442. Nat Genet. 1996. PMID: 8630502

4

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S. Amiel J, et al. Among authors: edery p. Hum Mol Genet. 1996 Mar;5(3):355-7. doi: 10.1093/hmg/5.3.355. Hum Mol Genet. 1996. PMID: 8852660

5

[Genetics of Hirschsprung disease].

Attié T, Amiel J, Jan D, Edery P, Pelet A, Salomon R, Munnich A, Lyonnet S, Nihoul-Fékété C. Attié T, et al. Among authors: edery p. Ann Chir. 1996;50(7):538-41. Ann Chir. 1996. PMID: 9035423 French.

6

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.

Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M. Faivre L, et al. Among authors: edery p. Prenat Diagn. 1999 Jan;19(1):49-53. Prenat Diagn. 1999. PMID: 10073907 Review.

7

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

8

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.

9

Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.

Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, Philip N. Giuliano F, et al. Among authors: edery p. Am J Med Genet A. 2004 Apr 1;126A(1):99-103. doi: 10.1002/ajmg.a.20551. Am J Med Genet A. 2004. PMID: 15039980

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

201 results

Search Page

Filters