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A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Among authors: argente j. Am J Hum Genet. 2005 Oct;77(4):533-44. doi: 10.1086/449313. Epub 2005 Aug 15. Am J Hum Genet. 2005. PMID: 16175500 Free PMC article.
Genetic basis of proportional short stature.
Campos-Barros A, Heath KE, Argente J. Campos-Barros A, et al. Among authors: argente j. Adv Exp Med Biol. 2005;567:341-83. doi: 10.1007/0-387-26274-1_14. Adv Exp Med Biol. 2005. PMID: 16370145 Review. No abstract available.
Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
Heath KE, Argente J, Barrios V, Pozo J, Díaz-González F, Martos-Moreno GA, Caimari M, Gracia R, Campos-Barros A. Heath KE, et al. Among authors: argente j. J Clin Endocrinol Metab. 2008 May;93(5):1616-24. doi: 10.1210/jc.2007-2678. Epub 2008 Feb 26. J Clin Endocrinol Metab. 2008. PMID: 18303074
Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
de Graaff LC, Argente J, Veenma DC, Herrebout MA, Friesema EC, Uitterlinden AG, Drent ML, Campos-Barros A, Hokken-Koelega AC. de Graaff LC, et al. Among authors: argente j. Clin Endocrinol (Oxf). 2009 May;70(5):742-50. doi: 10.1111/j.1365-2265.2008.03414.x. Epub 2008 Sep 10. Clin Endocrinol (Oxf). 2009. PMID: 18785993
422 results