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Molecular defects in the growth hormone receptor.
Amselem S, Duquesnoy P, Sobrier ML, Goossens M. Amselem S, et al. Among authors: sobrier ml. 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.
[Molecular genetics of growth hormone resistance syndrome].
Amselem S, Duriez B, Duquesnoy P, Sobrier ML, Goossens M. Amselem S, et al. Among authors: sobrier ml. C R Seances Soc Biol Fil. 1992;186(4):354-62. C R Seances Soc Biol Fil. 1992. PMID: 1301223 Review. French.
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: sobrier ml. 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.
Molecular genetics of Laron-type GH insensitivity syndrome.
Goossens M, Amselem S, Duquesnoy P, Sobrier ML. Goossens M, et al. Among authors: sobrier ml. 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.
52 results