Duquesnoy P - Search Results

1

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

Louvrier C, Assrawi E, El Khouri E, Melki I, Copin B, Bourrat E, Lachaume N, Cador-Rousseau B, Duquesnoy P, Piterboth W, Awad F, Jumeau C, Legendre M, Grateau G, Georgin-Lavialle S, Karabina SA, Amselem S, Giurgea I. Louvrier C, et al. Among authors: duquesnoy p. J Allergy Clin Immunol. 2020 Apr;145(4):1254-1261. doi: 10.1016/j.jaci.2019.11.035. Epub 2019 Dec 6. J Allergy Clin Immunol. 2020. PMID: 31816408 Free article.

2

[Molecular genetics of growth hormone resistance syndrome].

Amselem S, Duriez B, Duquesnoy P, Sobrier ML, Goossens M. Amselem S, et al. Among authors: duquesnoy p. C R Seances Soc Biol Fil. 1992;186(4):354-62. C R Seances Soc Biol Fil. 1992. PMID: 1301223 Review. French.

3

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

4

Point mutations in the growth hormone receptor gene of patients with Laron syndrome.

Amselem S, Duriez B, Sobrier ML, Duquesnoy P, Goossens M. Amselem S, et al. Among authors: duquesnoy p. Acta Paediatr Suppl. 1992 Sep;383:132-3. Acta Paediatr Suppl. 1992. PMID: 1458008 Review. No abstract available.

5

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

6

Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome.

Duquesnoy P, Sobrier ML, Amselem S, Goossens M. Duquesnoy P, et al. Proc Natl Acad Sci U S A. 1991 Nov 15;88(22):10272-6. doi: 10.1073/pnas.88.22.10272. Proc Natl Acad Sci U S A. 1991. PMID: 1719554 Free PMC article.

7

Molecular defects in the growth hormone receptor.

Amselem S, Duquesnoy P, Sobrier ML, Goossens M. Amselem S, et al. Among authors: duquesnoy p. Acta Paediatr Scand Suppl. 1991;377:81-6. doi: 10.1111/apa.1991.80.s377.81. Acta Paediatr Scand Suppl. 1991. PMID: 1785318 Review. No abstract available.

8

[Molecular genetic of growth hormone resistance syndrome].

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

9

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

10

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: duquesnoy p. N Engl J Med. 1989 Oct 12;321(15):989-95. doi: 10.1056/NEJM198910123211501. N Engl J Med. 1989. PMID: 2779634

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