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An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A. de Bruin C, et al. Among authors: hwa v. J Clin Endocrinol Metab. 2015 May;100(5):E789-98. doi: 10.1210/jc.2015-1098. Epub 2015 Mar 5. J Clin Endocrinol Metab. 2015. PMID: 25742519 Free PMC article.
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
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Domené HM, Hwa V, Argente J, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG; International ALS Collaborative Group. Domené HM, et al. Among authors: hwa v. Horm Res. 2009;72(3):129-41. doi: 10.1159/000232486. Epub 2009 Sep 1. Horm Res. 2009. PMID: 19729943 Free article. Review.
Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.
Fofanova-Gambetti OV, Hwa V, Wit JM, Domene HM, Argente J, Bang P, Högler W, Kirsch S, Pihoker C, Chiu HK, Cohen L, Jacobsen C, Jasper HG, Haeusler G, Campos-Barros A, Gallego-Gómez E, Gracia-Bouthelier R, van Duyvenvoorde HA, Pozo J, Rosenfeld RG. Fofanova-Gambetti OV, et al. Among authors: hwa v. J Clin Endocrinol Metab. 2010 Sep;95(9):4184-91. doi: 10.1210/jc.2010-0489. Epub 2010 Jun 30. J Clin Endocrinol Metab. 2010. PMID: 20591980
STAT5b deficiency: lessons from STAT5b gene mutations.
Hwa V, Nadeau K, Wit JM, Rosenfeld RG. Hwa V, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):61-75. doi: 10.1016/j.beem.2010.09.003. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396575 Review.
Genetic analysis of short children with apparent growth hormone insensitivity.
Wit JM, van Duyvenvoorde HA, Scheltinga SA, de Bruin S, Hafkenscheid L, Kant SG, Ruivenkamp CA, Gijsbers AC, van Doorn J, Feigerlova E, Noordam C, Walenkamp MJ, Claahsen-van de Grinten H, Stouthart P, Bonapart IE, Pereira AM, Gosen J, Delemarre-van de Waal HA, Hwa V, Breuning MH, Domené HM, Oostdijk W, Losekoot M. Wit JM, et al. Among authors: hwa v. Horm Res Paediatr. 2012;77(5):320-33. doi: 10.1159/000338462. Epub 2012 Jun 6. Horm Res Paediatr. 2012. PMID: 22678306
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Dauber A, et al. Among authors: hwa v. J Clin Endocrinol Metab. 2012 Nov;97(11):E2140-51. doi: 10.1210/jc.2012-2150. Epub 2012 Aug 29. J Clin Endocrinol Metab. 2012. PMID: 22933543 Free PMC article.
137 results