Duquesnoy P - Search Results

1

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Dastot-Le Moal F, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, Legendre M. Jeanson L, et al. Among authors: duquesnoy p. Hum Mutat. 2016 Aug;37(8):776-85. doi: 10.1002/humu.23005. Epub 2016 May 12. Hum Mutat. 2016. PMID: 27120127

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

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.

6

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.

7

[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.

8

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.

9

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

10

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: duquesnoy p. 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.

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