Munnich A - Search Results

1

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: munnich a. Prenat Diagn. 1999 Jan;19(1):49-53. Prenat Diagn. 1999. PMID: 10073907 Review.

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: munnich a. 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: munnich a. 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

Upper limb malformations in DiGeorge syndrome.

Cormier-Daire V, Iserin L, Théophile D, Sidi D, Vervel C, Padovani JP, Vekemans M, Munnich A, Lyonnet S. Cormier-Daire V, et al. Among authors: munnich a. Am J Med Genet. 1995 Mar 13;56(1):39-41. doi: 10.1002/ajmg.1320560111. Am J Med Genet. 1995. PMID: 7747784

5

[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: munnich a. C R Seances Soc Biol Fil. 1994;188(5-6):499-504. C R Seances Soc Biol Fil. 1994. PMID: 7780793 Review. French.

6

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. Among authors: munnich a. Am J Med Genet. 1994 Aug 15;52(2):174-7. doi: 10.1002/ajmg.1320520210. Am J Med Genet. 1994. PMID: 7802004

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. Among authors: munnich a. 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: munnich a. 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: munnich a. 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. Among authors: munnich a. Nature. 1994 Jan 27;367(6461):378-80. doi: 10.1038/367378a0. Nature. 1994. PMID: 8114939

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