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An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.
David A, Camacho-Hübner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S, Clayton PE, Clark AJ, Savage MO, Metherell LA. David A, et al. Among authors: rose sj. J Clin Endocrinol Metab. 2007 Feb;92(2):655-9. doi: 10.1210/jc.2006-1527. Epub 2006 Dec 5. J Clin Endocrinol Metab. 2007. PMID: 17148568
Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.
Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U, Dias R, Savage MO, Metherell LA, Storr HL. Chatterjee S, et al. Among authors: rose sj. Eur J Endocrinol. 2018 May;178(5):481-489. doi: 10.1530/EJE-18-0042. Epub 2018 Mar 2. Eur J Endocrinol. 2018. PMID: 29500309
Pharmacokinetic studies of recombinant human insulin-like growth factor I (rhIGF-I)/rhIGF-binding protein-3 complex administered to patients with growth hormone insensitivity syndrome.
Camacho-Hübner C, Rose S, Preece MA, Sleevi M, Storr HL, Miraki-Moud F, Minuto F, Frystyk J, Rogol A, Allan G, Sommer A, Savage MO. Camacho-Hübner C, et al. J Clin Endocrinol Metab. 2006 Apr;91(4):1246-53. doi: 10.1210/jc.2005-1017. Epub 2006 Jan 10. J Clin Endocrinol Metab. 2006. PMID: 16403822 Clinical Trial.
203 results