These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature. Goddard AD; Dowd P; Chernausek S; Geffner M; Gertner J; Hintz R; Hopwood N; Kaplan S; Plotnick L; Rogol A; Rosenfield R; Saenger P; Mauras N; Hershkopf R; Angulo M; Attie K J Pediatr; 1997 Jul; 131(1 Pt 2):S51-5. PubMed ID: 9255229 [TBL] [Abstract][Full Text] [Related]
3. Clinical review 112: Does serum growth hormone (GH) binding protein reflect human GH receptor function? Amit T; Youdim MB; Hochberg Z J Clin Endocrinol Metab; 2000 Mar; 85(3):927-32. PubMed ID: 10720017 [TBL] [Abstract][Full Text] [Related]
4. Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain. Aisenberg J; Auyeung V; Pedro HF; Sugalski R; Chartoff A; Rothenberg R; Derr MA; Hwa V; Rosenfeld RG Horm Res Paediatr; 2010; 74(6):406-11. PubMed ID: 20606392 [TBL] [Abstract][Full Text] [Related]
5. Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree. Silbergeld A; Dastot F; Klinger B; Kanety H; Eshet R; Amselem S; Laron Z J Pediatr Endocrinol Metab; 1997; 10(3):265-74. PubMed ID: 9388817 [TBL] [Abstract][Full Text] [Related]
6. 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 J Clin Endocrinol Metab; 1997 Feb; 82(2):435-7. PubMed ID: 9024232 [TBL] [Abstract][Full Text] [Related]
7. A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. Woods KA; Fraser NC; Postel-Vinay MC; Savage MO; Clark AJ J Clin Endocrinol Metab; 1996 May; 81(5):1686-90. PubMed ID: 8626815 [TBL] [Abstract][Full Text] [Related]
8. Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome. Freeth JS; Ayling RM; Whatmore AJ; Towner P; Price DA; Norman MR; Clayton PE Endocrinology; 1997 Jan; 138(1):55-61. PubMed ID: 8977385 [TBL] [Abstract][Full Text] [Related]
10. The D152H mutation found in growth hormone insensitivity syndrome impairs expression and function of human growth hormone receptor but is silent in rat receptor. Esposito N; Wojcik J; Chomilier J; Martini JF; Kelly PA; Finidori J; Postel-Vinay MC J Mol Endocrinol; 1998 Aug; 21(1):61-72. PubMed ID: 9723864 [TBL] [Abstract][Full Text] [Related]
11. The spectrum of growth-hormone insensitivity. Parks JS; Brown MR; Faase ME J Pediatr; 1997 Jul; 131(1 Pt 2):S45-50. PubMed ID: 9255228 [TBL] [Abstract][Full Text] [Related]
12. Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform. Pantel J; Grulich-Henn J; Bettendorf M; Strasburger CJ; Heinrich U; Amselem S J Clin Endocrinol Metab; 2003 Apr; 88(4):1705-10. PubMed ID: 12679461 [TBL] [Abstract][Full Text] [Related]
13. Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein. Rughani A; Zhang D; Vairamani K; Dauber A; Hwa V; Krishnan S Clin Endocrinol (Oxf); 2020 Apr; 92(4):331-337. PubMed ID: 31883394 [TBL] [Abstract][Full Text] [Related]
14. A mammalian model for Laron syndrome produced by targeted disruption of the mouse growth hormone receptor/binding protein gene (the Laron mouse). Zhou Y; Xu BC; Maheshwari HG; He L; Reed M; Lozykowski M; Okada S; Cataldo L; Coschigamo K; Wagner TE; Baumann G; Kopchick JJ Proc Natl Acad Sci U S A; 1997 Nov; 94(24):13215-20. PubMed ID: 9371826 [TBL] [Abstract][Full Text] [Related]
15. Laron syndrome: typical and atypical forms. Woods KA; Savage MO Baillieres Clin Endocrinol Metab; 1996 Jul; 10(3):371-87. PubMed ID: 8853445 [TBL] [Abstract][Full Text] [Related]
16. Signal transduction defects in growth hormone insensitivity. Clayton PE; Freeth JS; Whatmore AJ; Ayling RM; Norman MR; Silva CM Acta Paediatr Suppl; 1999 Feb; 88(428):174-8; discussion 179. PubMed ID: 10102076 [TBL] [Abstract][Full Text] [Related]
17. The GH receptor and GH insensitivity. Ross RJ Growth Horm IGF Res; 1999 Jun; 9 Suppl B():42-5; discussion 45-6. PubMed ID: 10549305 [TBL] [Abstract][Full Text] [Related]
18. Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. Iida K; Takahashi Y; Kaji H; Nose O; Okimura Y; Abe H; Chihara K J Clin Endocrinol Metab; 1998 Feb; 83(2):531-7. PubMed ID: 9467570 [TBL] [Abstract][Full Text] [Related]