Amselem S - Search Results

1

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

Hovnanian A, Duquesnoy P, Blanchet-Bardon C, Knowlton RG, Amselem S, Lathrop M, Dubertret L, Uitto J, Goossens M. Hovnanian A, et al. Among authors: amselem s. J Clin Invest. 1992 Sep;90(3):1032-6. doi: 10.1172/JCI115916. J Clin Invest. 1992. PMID: 1355776 Free PMC article.

2

[Hereditary skin diseases: new genetic approaches].

Hovnanian A, Amselem S. Hovnanian A, et al. Among authors: amselem s. Pathol Biol (Paris). 1992 Feb;40(2):192-5. Pathol Biol (Paris). 1992. PMID: 1608660 Review. French.

3

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.

Hovnanian A, Duquesnoy P, Amselem S, Blanchet-Bardon C, Lathrop M, Dubertret L, Goossens M. Hovnanian A, et al. Among authors: amselem s. J Clin Invest. 1991 Nov;88(5):1716-21. doi: 10.1172/JCI115489. J Clin Invest. 1991. PMID: 1658051 Free PMC article.

4

[Molecular genetic of growth hormone resistance syndrome].

Amselem S, Sobrier ML, Duquesnoy P, Goossens M. Amselem S, et al. Ann Endocrinol (Paris). 1991;52(6):474-8. Ann Endocrinol (Paris). 1991. PMID: 1824502 Review. French.

5

Identification of a new mutation responsible for hepatoerythropoietic porphyria.

Romana M, Grandchamp B, Dubart A, Amselem S, Chabret C, Nordmann Y, Goossens M, Romeo PH. Romana M, et al. Among authors: amselem s. Eur J Clin Invest. 1991 Apr;21(2):225-9. doi: 10.1111/j.1365-2362.1991.tb01814.x. Eur J Clin Invest. 1991. PMID: 1905636

6

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.

Amselem S, Sobrier ML, Duquesnoy P, Rappaport R, Postel-Vinay MC, Gourmelen M, Dallapiccola B, Goossens M. Amselem S, et al. J Clin Invest. 1991 Mar;87(3):1098-102. doi: 10.1172/JCI115071. J Clin Invest. 1991. PMID: 1999489 Free PMC article.

7

Laron dwarfism and mutations of the growth hormone-receptor gene.

Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC, Goossens M. Amselem S, et al. N Engl J Med. 1989 Oct 12;321(15):989-95. doi: 10.1056/NEJM198910123211501. N Engl J Med. 1989. PMID: 2779634

8

Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene.

Desbois-Mouthon C, Magré J, Amselem S, Reynet C, Blivet MJ, Goossens M, Capeau J, Besmond C. Desbois-Mouthon C, et al. Among authors: amselem s. J Clin Endocrinol Metab. 1995 Jan;80(1):314-9. doi: 10.1210/jcem.80.1.7829633. J Clin Endocrinol Metab. 1995. PMID: 7829633

9

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

Duriez B, Duquesnoy P, Dastot F, Bougnères P, Amselem S, Goossens M. Duriez B, et al. Among authors: amselem s. FEBS Lett. 1994 Jun 13;346(2-3):165-70. doi: 10.1016/0014-5793(94)00457-9. FEBS Lett. 1994. PMID: 8013627 Free article.

10

Molecular genetics of Laron-type GH insensitivity syndrome.

Goossens M, Amselem S, Duquesnoy P, Sobrier ML. Goossens M, et al. Among authors: amselem s. Recent Prog Horm Res. 1993;48:165-78. doi: 10.1016/b978-0-12-571148-7.50010-5. Recent Prog Horm Res. 1993. PMID: 8441847 Review. No abstract available.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

246 results

Search Page

Filters