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Page 1
Integrated genomic analysis of nodular tissue in macronodular adrenocortical hyperplasia: progression of tumorigenesis in a disorder associated with multiple benign lesions.
Almeida MQ, Harran M, Bimpaki EI, Hsiao HP, Horvath A, Cheadle C, Watkins T, Nesterova M, Stratakis CA. Almeida MQ, et al. Among authors: bimpaki ei. J Clin Endocrinol Metab. 2011 Apr;96(4):E728-38. doi: 10.1210/jc.2010-2420. Epub 2011 Jan 20. J Clin Endocrinol Metab. 2011. PMID: 21252250 Free PMC article.
Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.
Almeida MQ, Azevedo MF, Xekouki P, Bimpaki EI, Horvath A, Collins MT, Karaviti LP, Jeha GS, Bhattacharyya N, Cheadle C, Watkins T, Bourdeau I, Nesterova M, Stratakis CA. Almeida MQ, et al. Among authors: bimpaki ei. J Clin Endocrinol Metab. 2012 Apr;97(4):E687-93. doi: 10.1210/jc.2011-3000. Epub 2012 Jan 18. J Clin Endocrinol Metab. 2012. PMID: 22259056 Free PMC article.
In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex.
Patronas Y, Horvath A, Greene E, Tsang K, Bimpaki E, Haran M, Nesterova M, Stratakis CA. Patronas Y, et al. J Clin Endocrinol Metab. 2012 Mar;97(3):E496-502. doi: 10.1210/jc.2011-2220. Epub 2011 Dec 28. J Clin Endocrinol Metab. 2012. PMID: 22205709 Free PMC article.
Clinical and molecular genetics of the phosphodiesterases (PDEs).
Azevedo MF, Faucz FR, Bimpaki E, Horvath A, Levy I, de Alexandre RB, Ahmad F, Manganiello V, Stratakis CA. Azevedo MF, et al. Endocr Rev. 2014 Apr;35(2):195-233. doi: 10.1210/er.2013-1053. Epub 2013 Dec 5. Endocr Rev. 2014. PMID: 24311737 Free PMC article. Review.
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. 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.
13 results