Edery P - Search Results

1

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. Among authors: edery p. 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

2

Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.

Attié T, Till M, Pelet A, Edery P, Bonnet JP, Munnich A, Lyonnet S. Attié T, et al. Among authors: edery p. J Med Genet. 1995 Apr;32(4):312-3. doi: 10.1136/jmg.32.4.312. J Med Genet. 1995. PMID: 7643365 Free PMC article.

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

Waardenburg-Hirschsprung disease in two sisters: a possible clue to the genetics of this association?

Bonnet JP, Till M, Edery P, Attie T, Lyonnet S. Bonnet JP, et al. Among authors: edery p. Eur J Pediatr Surg. 1996 Aug;6(4):245-8. doi: 10.1055/s-2008-1066521. Eur J Pediatr Surg. 1996. PMID: 8877363 Review.

5

[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.

6

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

7

[From morphological features to diagnostics of unexplained mental retardation: a new clinical classification?].

Edery P. Edery P. Arch Pediatr. 2004 Jun;11(6):562-3. doi: 10.1016/j.arcped.2004.03.104. Arch Pediatr. 2004. PMID: 15158834 French. No abstract available.

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

Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

Jaillet J, Robert-Gnansia E, Till M, Vinciguerra C, Edery P. Jaillet J, et al. Among authors: edery p. Birth Defects Res A Clin Mol Teratol. 2005 Mar;73(3):188-93. doi: 10.1002/bdra.20123. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 15751048

10

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.

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