Edery P - Search Results

1

An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.

Boutry-Kryza N, Labalme A, Till M, Schluth-Bolard C, Langue J, Turleau C, Edery P, Sanlaville D. Boutry-Kryza N, et al. Among authors: edery p. Am J Med Genet A. 2012 Feb;158A(2):400-5. doi: 10.1002/ajmg.a.34222. Epub 2011 Dec 7. Am J Med Genet A. 2012. PMID: 22162340

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

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.

6

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

7

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.

8

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

9

[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.

10

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

Schluth-Bolard C, Till M, Rafat A, Labalme A, Le Lorc'h M, Banquart E, Angei C, Cordier MP, Romana SP, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: edery p. Eur J Med Genet. 2008 Nov-Dec;51(6):622-30. doi: 10.1016/j.ejmg.2008.06.009. Epub 2008 Jul 12. Eur J Med Genet. 2008. PMID: 18674648

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