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Page 1
GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency.
Castinetti F, Daly AF, Stratakis CA, Caberg JH, Castermans E, Trivellin G, Rostomyan L, Saveanu A, Jullien N, Reynaud R, Barlier A, Bours V, Brue T, Beckers A. Castinetti F, et al. Among authors: stratakis ca. Horm Metab Res. 2016 Jun;48(6):389-93. doi: 10.1055/s-0042-100733. Epub 2016 Jan 21. Horm Metab Res. 2016. PMID: 26797872 Free PMC article.
An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein.
Drori-Herishanu L, Horvath A, Nesterova M, Patronas Y, Lodish M, Bimpaki E, Patronas N, Agarwal S, Salvatori R, Martari M, Mericq V, Stratakis CA. Drori-Herishanu L, et al. Among authors: stratakis ca. Horm Metab Res. 2009 Aug;41(8):630-4. doi: 10.1055/s-0029-1216358. Epub 2009 Apr 23. Horm Metab Res. 2009. PMID: 19391077 Free PMC article.
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.
Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen JF, Bours V, Salvatori R, Beckers A. Stratakis CA, et al. Clin Genet. 2010 Nov;78(5):457-63. doi: 10.1111/j.1399-0004.2010.01406.x. Clin Genet. 2010. PMID: 20507346 Free PMC article.
KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.
Xekouki P, Hatch MM, Lin L, Rodrigo de A, Azevedo M, de la Luz Sierra M, Levy I, Saloustros E, Moraitis A, Horvath A, Kebebew E, Hoffman DA, Stratakis CA. Xekouki P, et al. Among authors: stratakis ca. Endocr Relat Cancer. 2012 May 3;19(3):255-60. doi: 10.1530/ERC-12-0022. Print 2012 Jun. Endocr Relat Cancer. 2012. PMID: 22323562 Free PMC article.
Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.
Faucz FR, Zilbermint M, Lodish MB, Szarek E, Trivellin G, Sinaii N, Berthon A, Libé R, Assié G, Espiard S, Drougat L, Ragazzon B, Bertherat J, Stratakis CA. Faucz FR, et al. Among authors: stratakis ca. J Clin Endocrinol Metab. 2014 Jun;99(6):E1113-9. doi: 10.1210/jc.2013-4280. Epub 2014 Mar 6. J Clin Endocrinol Metab. 2014. PMID: 24601692 Free PMC article.
773 results