Edery P - Search Results

1

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: edery p. Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19225462 Free PMC 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

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.

4

[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.

5

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

6

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

Edery P, Pelet A, Mulligan LM, Abel L, Attié T, Dow E, Bonneau D, David A, Flintoff W, Jan D, et al. Edery P, et al. J Med Genet. 1994 Aug;31(8):602-6. doi: 10.1136/jmg.31.8.602. J Med Genet. 1994. PMID: 7815416 Free PMC article.

7

A novel polymorphism in the coding sequence of the human RET proto-oncogene.

Edery P, Attié T, Mulligan LM, Pelet A, Eng C, Ponder BA, Munnich A, Lyonnet S. Edery P, et al. Hum Genet. 1994 Nov;94(5):579-80. doi: 10.1007/BF00211034. Hum Genet. 1994. PMID: 7959702

8

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.

Attie T, Pelet A, Sarda P, Eng C, Edery P, Mulligan LM, Ponder BA, Munnich A, Lyonnet S. Attie T, et al. Among authors: edery p. Hum Mol Genet. 1994 Aug;3(8):1439-40. doi: 10.1093/hmg/3.8.1439. Hum Mol Genet. 1994. PMID: 7987334 No abstract available.

9

[Mutations of RET proto-oncogene in Hirschsprung disease].

Lyonnet S, Edery P, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fékéte C, Ponder BA, Munnich A. Lyonnet S, et al. Among authors: edery p. C R Acad Sci III. 1994 Apr;317(4):358-62. C R Acad Sci III. 1994. PMID: 8000915 French.

10

Mutations of the RET proto-oncogene in Hirschsprung's disease.

Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fékété C, Ponder BA, Munnich A. Edery P, et al. Nature. 1994 Jan 27;367(6461):378-80. doi: 10.1038/367378a0. Nature. 1994. PMID: 8114939

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