Duquesnoy P - Search Results

1

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S. Duquesnoy P, et al. Am J Hum Genet. 2009 Dec;85(6):890-6. doi: 10.1016/j.ajhg.2009.11.008. Am J Hum Genet. 2009. PMID: 19944405 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: duquesnoy p. J Clin Invest. 1992 Sep;90(3):1032-6. doi: 10.1172/JCI115916. J Clin Invest. 1992. PMID: 1355776 Free PMC article.

3

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.

4

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.

5

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.

6

[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.

7

Molecular genetics of Laron-type GH insensitivity syndrome.

Goossens M, Amselem S, Duquesnoy P, Sobrier ML. Goossens M, et al. Among authors: duquesnoy p. 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.

8

Expression and binding properties of two isoforms of the human growth hormone receptor.

Sobrier ML, Duquesnoy P, Duriez B, Amselem S, Goossens M. Sobrier ML, et al. Among authors: duquesnoy p. FEBS Lett. 1993 Mar 15;319(1-2):16-20. doi: 10.1016/0014-5793(93)80028-s. FEBS Lett. 1993. PMID: 8454051 Free article.

9

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

Amselem S, Duquesnoy P, Duriez B, Dastot F, Sobrier ML, Valleix S, Goossens M. Amselem S, et al. Among authors: duquesnoy p. Hum Mol Genet. 1993 Apr;2(4):355-9. doi: 10.1093/hmg/2.4.355. Hum Mol Genet. 1993. PMID: 8504296

10

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: duquesnoy p. 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.

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