Amiel J - Search Results

1

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

Caron P, Attié T, David D, Amiel J, Brousset F, Roger P, Munnich A, Lyonnet S. Caron P, et al. Among authors: amiel j. J Clin Endocrinol Metab. 1996 Jul;81(7):2731-3. doi: 10.1210/jcem.81.7.8675603. J Clin Endocrinol Metab. 1996. PMID: 8675603

2

[Genetics of Hirschsprung disease].

Attié T, Amiel J, Jan D, Edery P, Pelet A, Salomon R, Munnich A, Lyonnet S, Nihoul-Fékété C. Attié T, et al. Among authors: amiel j. Ann Chir. 1996;50(7):538-41. Ann Chir. 1996. PMID: 9035423 French.

3

[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.

4

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

5

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

6

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.

7

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

8

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

9

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

10

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

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