Goossens M - Search Results

1

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers Av, Goossens M, Grüters A, Amselem S. Netchine I, et al. Among authors: goossens m. Nat Genet. 2000 Jun;25(2):182-6. doi: 10.1038/76041. Nat Genet. 2000. PMID: 10835633

2

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: goossens m. Hum Mol Genet. 1993 Apr;2(4):355-9. doi: 10.1093/hmg/2.4.355. Hum Mol Genet. 1993. PMID: 8504296

3

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

Sobrier ML, Dastot F, Duquesnoy P, Kandemir N, Yordam N, Goossens M, Amselem S. Sobrier ML, et al. Among authors: goossens m. J Clin Endocrinol Metab. 1997 Feb;82(2):435-7. doi: 10.1210/jcem.82.2.3725. J Clin Endocrinol Metab. 1997. PMID: 9024232

4

Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency.

Duquesnoy P, Roy A, Dastot F, Ghali I, Teinturier C, Netchine I, Cacheux V, Hafez M, Salah N, Chaussain JL, Goossens M, Bougnères P, Amselem S. Duquesnoy P, et al. Among authors: goossens m. FEBS Lett. 1998 Oct 23;437(3):216-20. doi: 10.1016/s0014-5793(98)01234-4. FEBS Lett. 1998. PMID: 9824293 Free article.

5

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clément A, Goossens M, Amselem S, Duriez B. Pennarun G, et al. Among authors: goossens m. Am J Hum Genet. 1999 Dec;65(6):1508-19. doi: 10.1086/302683. Am J Hum Genet. 1999. PMID: 10577904 Free PMC article.

6

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.

Pennarun G, Chapelin C, Escudier E, Bridoux AM, Dastot F, Cacheux V, Goossens M, Amselem S, Duriez B. Pennarun G, et al. Among authors: goossens m. Hum Genet. 2000 Dec;107(6):642-9. doi: 10.1007/s004390000427. Hum Genet. 2000. PMID: 11153919

7

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: goossens m. 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.

8

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

Duquesnoy P, Sobrier ML, Duriez B, Dastot F, Buchanan CR, Savage MO, Preece MA, Craescu CT, Blouquit Y, Goossens M, et al. Duquesnoy P, et al. Among authors: goossens m. EMBO J. 1994 Mar 15;13(6):1386-95. doi: 10.1002/j.1460-2075.1994.tb06392.x. EMBO J. 1994. PMID: 8137822 Free PMC article.

9

A naturally occurring growth hormone receptor mutation: in vivo and in vitro evidence for the functional importance of the WS motif common to all members of the cytokine receptor superfamily.

Duriez B, Sobrier ML, Duquesnoy P, Tixier-Boichard M, Decuypere E, Coquerelle G, Zeman M, Goossens M, Amselem S. Duriez B, et al. Among authors: goossens m. Mol Endocrinol. 1993 Jun;7(6):806-14. doi: 10.1210/mend.7.6.8361502. Mol Endocrinol. 1993. PMID: 8361502

10

Molecular genetics of Laron-type GH insensitivity syndrome.

Goossens M, Amselem S, Duquesnoy P, Sobrier ML. Goossens M, et al. 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.

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