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Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.
Millar DS, Lewis MD, Horan M, Newsway V, Easter TE, Gregory JW, Fryklund L, Norin M, Crowne EC, Davies SJ, Edwards P, Kirk J, Waldron K, Smith PJ, Phillips JA 3rd, Scanlon MF, Krawczak M, Cooper DN, Procter AM. Millar DS, et al. Among authors: fryklund l. Hum Mutat. 2003 Apr;21(4):424-40. doi: 10.1002/humu.10168. Hum Mutat. 2003. PMID: 12655557
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway.
Lewis MD, Horan M, Millar DS, Newsway V, Easter TE, Fryklund L, Gregory JW, Norin M, Del Valle CJ, López-Siguero JP, Cañete R, López-Canti LF, Díaz-Torrado N, Espino R, Ulied A, Scanlon MF, Procter AM, Cooper DN. Lewis MD, et al. Among authors: fryklund l. J Clin Endocrinol Metab. 2004 Mar;89(3):1068-75. doi: 10.1210/jc.2003-030652. J Clin Endocrinol Metab. 2004. PMID: 15001589
GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism.
Tauber M, Ester W, Auriol F, Molinas C, Fauvel J, Caliebe J, Nugent T, Fryklund L, Ranke MB, Savage MO, Clark AJ, Johnston LB, Hokken-Koelega AC; NESTEGG group. Tauber M, et al. Among authors: fryklund l. Clin Endocrinol (Oxf). 2007 Sep;67(3):457-61. doi: 10.1111/j.1365-2265.2007.02911.x. Epub 2007 Jun 7. Clin Endocrinol (Oxf). 2007. PMID: 17555507 Free PMC article.
Network of European studies of genes in growth (NESTEGG).
Johnston LB, Ester W, Caliebe J, Molinas C, Wollmann H, Fryklund L, Clark AJ, Ranke MB, Tauber M, Hokken Koelega A, Savage MO. Johnston LB, et al. Among authors: fryklund l. Horm Res. 2009 Apr;71 Suppl 2:48-54. doi: 10.1159/000192436. Epub 2009 Apr 29. Horm Res. 2009. PMID: 19407497 Review.
Recombinant human growth hormone.
Fryklund LM, Bierich JR, Ranke MB. Fryklund LM, et al. Clin Endocrinol Metab. 1986 Aug;15(3):511-35. doi: 10.1016/s0300-595x(86)80009-3. Clin Endocrinol Metab. 1986. PMID: 2429793
70 results