Amiel J - Search Results

1

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V. Dubail J, et al. Among authors: amiel j. Nat Commun. 2018 Aug 6;9(1):3087. doi: 10.1038/s41467-018-05191-8. Nat Commun. 2018. PMID: 30082715 Free PMC article.

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

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

4

[Congenital malformations in pediatric tumors].

Amiel J, Lacombe D, Attié T, Munnich A, Lyonnet S. Amiel J, et al. Arch Pediatr. 1998;5 Suppl 2:88s-89s. Arch Pediatr. 1998. PMID: 9759225 French. No abstract available.

5

Ebstein anomaly associated with rearrangements of chromosomal region 11q.

de Lonlay-Debeney P, de Blois MC, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, Cormier-Daire V. de Lonlay-Debeney P, et al. Among authors: amiel j. Am J Med Genet. 1998 Nov 2;80(2):157-9. doi: 10.1002/(sici)1096-8628(19981102)80:2<157::aid-ajmg12>3.0.co;2-u. Am J Med Genet. 1998. PMID: 9805133

6

[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I].

Vabres P, de Lonlay P, Amiel J, Lyonnet S, Munnich A, de Prost Y. Vabres P, et al. Among authors: amiel j. Ann Dermatol Venereol. 1998 Sep;125(9):593-4. Ann Dermatol Venereol. 1998. PMID: 9805547 French.

7

[From monogenic to polygenic: model of Hirschsprung disease].

Salomon R, Amiel J, Attié T, Pelet A, Munnich A, Lyonnet S. Salomon R, et al. Among authors: amiel j. Pathol Biol (Paris). 1998 Nov;46(9):705-7. Pathol Biol (Paris). 1998. PMID: 9885824 Review. French.

8

Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

Amiel J, Cormier-Daire V, Journeau P, Mussat P, Munnich A, Lyonnet S. Amiel J, et al. J Med Genet. 1999 Jul;36(7):561-4. J Med Genet. 1999. PMID: 10424819 Free PMC article.

9

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rötig A. Valnot I, et al. Among authors: amiel j. Am J Hum Genet. 2000 Nov;67(5):1104-9. doi: 10.1016/S0002-9297(07)62940-1. Epub 2000 Sep 28. Am J Hum Genet. 2000. PMID: 11013136 Free PMC article.

10

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.

Faivre L, Cormier-Daire V, Chrétien D, Christoph von Kleist-Retzow J, Amiel J, Dommergues M, Saudubray JM, Dumez Y, Rötig A, Rustin P, Munnich A. Faivre L, et al. Among authors: amiel j. Prenat Diagn. 2000 Sep;20(9):732-7. doi: 10.1002/1097-0223(200009)20:9<732::aid-pd916>3.0.co;2-#. Prenat Diagn. 2000. PMID: 11015702

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

931 results

Search Page