Hwa V - Search Results

1

Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).

Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL. Cottrell E, et al. Among authors: hwa v. J Clin Endocrinol Metab. 2021 Jul 28;107(1):e401-16. doi: 10.1210/clinem/dgab550. Online ahead of print. J Clin Endocrinol Metab. 2021. PMID: 34318893 Free PMC article.

2

Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.

Hwa V, Little B, Adiyaman P, Kofoed EM, Pratt KL, Ocal G, Berberoglu M, Rosenfeld RG. Hwa V, et al. J Clin Endocrinol Metab. 2005 Jul;90(7):4260-6. doi: 10.1210/jc.2005-0515. Epub 2005 Apr 12. J Clin Endocrinol Metab. 2005. PMID: 15827093

3

Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.

Hwa V, Camacho-Hübner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO, Rosenfeld RG. Hwa V, et al. Horm Res. 2007;68(5):218-24. doi: 10.1159/000101334. Epub 2007 Mar 28. Horm Res. 2007. PMID: 17389811

4

Defects in growth hormone receptor signaling.

Rosenfeld RG, Belgorosky A, Camacho-Hubner C, Savage MO, Wit JM, Hwa V. Rosenfeld RG, et al. Among authors: hwa v. Trends Endocrinol Metab. 2007 May-Jun;18(4):134-41. doi: 10.1016/j.tem.2007.03.004. Epub 2007 Mar 27. Trends Endocrinol Metab. 2007. PMID: 17391978

5

Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.

Fang P, Riedl S, Amselem S, Pratt KL, Little BM, Haeusler G, Hwa V, Frisch H, Rosenfeld RG. Fang P, et al. Among authors: hwa v. J Clin Endocrinol Metab. 2007 Jun;92(6):2223-31. doi: 10.1210/jc.2006-2624. Epub 2007 Apr 3. J Clin Endocrinol Metab. 2007. PMID: 17405847

6

Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?

Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG, Clark AJ. Savage MO, et al. Among authors: hwa v. Eur J Endocrinol. 2007 Aug;157 Suppl 1:S33-7. doi: 10.1530/EJE-07-0292. Eur J Endocrinol. 2007. PMID: 17785695 Review.

7

Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.

Fang P, Schwartz ID, Johnson BD, Derr MA, Roberts CT Jr, Hwa V, Rosenfeld RG. Fang P, et al. Among authors: hwa v. J Clin Endocrinol Metab. 2009 May;94(5):1740-7. doi: 10.1210/jc.2008-1903. Epub 2009 Feb 24. J Clin Endocrinol Metab. 2009. PMID: 19240156

8

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

David A, Hwa V, Metherell LA, Netchine I, Camacho-Hübner C, Clark AJ, Rosenfeld RG, Savage MO. David A, et al. Among authors: hwa v. Endocr Rev. 2011 Aug;32(4):472-97. doi: 10.1210/er.2010-0023. Epub 2011 Apr 27. Endocr Rev. 2011. PMID: 21525302 Review.

9

Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R).

Fang P, Cho YH, Derr MA, Rosenfeld RG, Hwa V, Cowell CT. Fang P, et al. Among authors: hwa v. J Clin Endocrinol Metab. 2012 Feb;97(2):E243-7. doi: 10.1210/jc.2011-2142. Epub 2011 Nov 30. J Clin Endocrinol Metab. 2012. PMID: 22130793

10

Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.

Savage MO, Hwa V, David A, Rosenfeld RG, Metherell LA. Savage MO, et al. Among authors: hwa v. Front Endocrinol (Lausanne). 2011 Dec 12;2:95. doi: 10.3389/fendo.2011.00095. eCollection 2011. Front Endocrinol (Lausanne). 2011. PMID: 22654835 Free PMC article.

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