Amiel J - Search Results

1

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

Attié T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S. Attié T, et al. Among authors: amiel j. Hum Mol Genet. 1995 Dec;4(12):2407-9. doi: 10.1093/hmg/4.12.2407. Hum Mol Genet. 1995. PMID: 8634719 No abstract available.

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: amiel j. 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. Among authors: amiel j. 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. Hum Mol Genet. 1996 Mar;5(3):355-7. doi: 10.1093/hmg/5.3.355. Hum Mol Genet. 1996. PMID: 8852660

5

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

Salomon R, Attié T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fékété C, Munnich A, Lyonnet S. Salomon R, et al. Among authors: amiel j. Nat Genet. 1996 Nov;14(3):345-7. doi: 10.1038/ng1196-345. Nat Genet. 1996. PMID: 8896569

6

[Genetics of Hirschsprung disease].

Attié T, Salomon R, Amiel J, Edery P, Pelet A, Nihoul-Fékété C, Munnich A, Lyonnet S. Attié T, et al. Among authors: amiel j. C R Seances Soc Biol Fil. 1996;190(5-6):549-56. C R Seances Soc Biol Fil. 1996. PMID: 9074720 Review. French.

7

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

Bidaud C, Salomon R, Van Camp G, Pelet A, Attié T, Eng C, Bonduelle M, Amiel J, Nihoul-Fékété C, Willems PJ, Munnich A, Lyonnet S. Bidaud C, et al. Among authors: amiel j. Eur J Hum Genet. 1997 Jul-Aug;5(4):247-51. Eur J Hum Genet. 1997. PMID: 9359047

8

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.

Doray B, Salomon R, Amiel J, Pelet A, Touraine R, Billaud M, Attié T, Bachy B, Munnich A, Lyonnet S. Doray B, et al. Among authors: amiel j. Hum Mol Genet. 1998 Sep;7(9):1449-52. doi: 10.1093/hmg/7.9.1449. Hum Mol Genet. 1998. PMID: 9700200

9

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S. Amiel J, et al. Am J Hum Genet. 2001 Dec;69(6):1370-7. doi: 10.1086/324342. Epub 2001 Oct 10. Am J Hum Genet. 2001. PMID: 11595972 Free PMC article.

10

Hirschsprung disease, associated syndromes, and genetics: a review.

Amiel J, Lyonnet S. Amiel J, et al. J Med Genet. 2001 Nov;38(11):729-39. doi: 10.1136/jmg.38.11.729. J Med Genet. 2001. PMID: 11694544 Free PMC article. Review.

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