Goossens M - Search Results

1

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: goossens m. J Clin Invest. 1991 Nov;88(5):1716-21. doi: 10.1172/JCI115489. J Clin Invest. 1991. PMID: 1658051 Free PMC article.

2

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: goossens m. J Clin Invest. 1992 Sep;90(3):1032-6. doi: 10.1172/JCI115916. J Clin Invest. 1992. PMID: 1355776 Free PMC article.

3

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: goossens m. J Clin Endocrinol Metab. 1995 Jan;80(1):314-9. doi: 10.1210/jcem.80.1.7829633. J Clin Endocrinol Metab. 1995. PMID: 7829633

4

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.

Hilal L, Rochat A, Duquesnoy P, Blanchet-Bardon C, Wechsler J, Martin N, Christiano AM, Barrandon Y, Uitto J, Goossens M, et al. Hilal L, et al. Among authors: goossens m. Nat Genet. 1993 Nov;5(3):287-93. doi: 10.1038/ng1193-287. Nat Genet. 1993. PMID: 8275094

5

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. Among authors: goossens m. J Clin Invest. 1991 Mar;87(3):1098-102. doi: 10.1172/JCI115071. J Clin Invest. 1991. PMID: 1999489 Free PMC article.

6

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. Among authors: goossens m. N Engl J Med. 1989 Oct 12;321(15):989-95. doi: 10.1056/NEJM198910123211501. N Engl J Med. 1989. PMID: 2779634

7

Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.

Hovnanian A, Hilal L, Blanchet-Bardon C, de Prost Y, Christiano AM, Uitto J, Goossens M. Hovnanian A, et al. Among authors: goossens m. Am J Hum Genet. 1994 Aug;55(2):289-96. Am J Hum Genet. 1994. PMID: 8037207 Free PMC article.

8

Molecular basis of inherited growth hormone resistance in childhood.

Amselem S, Sobrier ML, Dastot F, Duquesnoy P, Duriez B, Goossens M. Amselem S, et al. Among authors: goossens m. Baillieres Clin Endocrinol Metab. 1996 Jul;10(3):353-69. doi: 10.1016/s0950-351x(96)80485-x. Baillieres Clin Endocrinol Metab. 1996. PMID: 8853444 Review.

9

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: goossens m. 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

10

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M. Hovnanian A, et al. Among authors: goossens m. Nat Genet. 1993 Apr;3(4):327-32. doi: 10.1038/ng0493-327. Nat Genet. 1993. PMID: 7526933

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