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Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Parajes S, et al. Among authors: pombo m. J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20. J Clin Endocrinol Metab. 2010. PMID: 20089618 Free PMC article.
Endocrine disruptors.
Pombo M, Castro-Feijóo L. Pombo M, et al. J Pediatr Endocrinol Metab. 2005 Dec;18 Suppl 1:1145-55. doi: 10.1515/jpem.2005.18.s1.1145. J Pediatr Endocrinol Metab. 2005. PMID: 16398443 Review.
Genetic basis of short stature.
Castro-Feijóo L, Quinteiro C, Loidi L, Barreiro J, Cabanas P, Arévalo T, Diéguez C, Casanueva FF, Pombo M. Castro-Feijóo L, et al. Among authors: pombo m. J Endocrinol Invest. 2005;28(5 Suppl):30-7. J Endocrinol Invest. 2005. PMID: 16114273 Review.
168 results