Amiel J - Search Results

1

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D. Delahaye A, et al. Among authors: amiel j. Clin Genet. 2007 Aug;72(2):112-21. doi: 10.1111/j.1399-0004.2007.00821.x. Clin Genet. 2007. PMID: 17661815

2

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

3

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.

4

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

5

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J. Bürglen L, et al. Among authors: amiel j. J Clin Invest. 1996 Sep 1;98(5):1130-2. doi: 10.1172/JCI118895. J Clin Invest. 1996. PMID: 8787675 Free PMC article.

6

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

7

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

8

[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.

9

[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.

10

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

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