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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: mericq 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.
[Precocious pubarche: experience in 173 cases ].
Eyzaguirre FC, Bancalari R, Youlton R, Román R, Silva R, García H, Mericq V. Eyzaguirre FC, et al. Among authors: mericq v. Rev Med Chil. 2009 Jan;137(1):31-8. Epub 2009 Apr 23. Rev Med Chil. 2009. PMID: 19399319 Free article. Spanish.
Ghrelin plasma levels in patients with idiopathic short stature.
Iñiguez G, Román R, Youlton R, Cassorla F, Mericq V. Iñiguez G, et al. Among authors: mericq v. Horm Res Paediatr. 2011 Feb;75(2):94-100. doi: 10.1159/000317429. Epub 2010 Sep 23. Horm Res Paediatr. 2011. PMID: 20861603
Copy number variants in patients with short stature.
van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, Mericq V, Pereira AM, Claahsen-van de Grinten HL, van Gool SA, Breuning MH, Losekoot M, Baron J, Ruivenkamp CA, Wit JM. van Duyvenvoorde HA, et al. Among authors: mericq v. Eur J Hum Genet. 2014 May;22(5):602-9. doi: 10.1038/ejhg.2013.203. Epub 2013 Sep 25. Eur J Hum Genet. 2014. PMID: 24065112 Free PMC article.
165 results