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658 results

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Page 1
Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.
Lodish MB, Yuan B, Levy I, Braunstein GD, Lyssikatos C, Salpea P, Szarek E, Karageorgiadis AS, Belyavskaya E, Raygada M, Faucz FR, Izzat L, Brain C, Gardner J, Quezado M, Carney JA, Lupski JR, Stratakis CA. Lodish MB, et al. Among authors: levy i. Eur J Endocrinol. 2015 Jun;172(6):803-11. doi: 10.1530/EJE-14-1154. Eur J Endocrinol. 2015. PMID: 25924874 Free PMC article.
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors.
Gaal J, Stratakis CA, Carney JA, Ball ER, Korpershoek E, Lodish MB, Levy I, Xekouki P, van Nederveen FH, den Bakker MA, O'Sullivan M, Dinjens WN, de Krijger RR. Gaal J, et al. Among authors: levy i. Mod Pathol. 2011 Jan;24(1):147-51. doi: 10.1038/modpathol.2010.185. Epub 2010 Oct 1. Mod Pathol. 2011. PMID: 20890271 Free PMC article.
The cAMP pathway and the control of adrenocortical development and growth.
de Joussineau C, Sahut-Barnola I, Levy I, Saloustros E, Val P, Stratakis CA, Martinez A. de Joussineau C, et al. Among authors: levy i. Mol Cell Endocrinol. 2012 Mar 31;351(1):28-36. doi: 10.1016/j.mce.2011.10.006. Epub 2011 Oct 15. Mol Cell Endocrinol. 2012. PMID: 22019902 Free PMC article. Review.
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: levy i. 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.
Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.
Vezzosi D, Libé R, Baudry C, Rizk-Rabin M, Horvath A, Levy I, René-Corail F, Ragazzon B, Stratakis CA, Vandecasteele G, Bertherat J. Vezzosi D, et al. Among authors: levy i. J Clin Endocrinol Metab. 2012 Nov;97(11):E2063-9. doi: 10.1210/jc.2012-2275. Epub 2012 Sep 20. J Clin Endocrinol Metab. 2012. PMID: 22996146 Free PMC article.
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.
Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA. Salpea P, et al. Among authors: levy i. J Clin Endocrinol Metab. 2014 Jan;99(1):E183-8. doi: 10.1210/jc.2013-3159. Epub 2013 Dec 20. J Clin Endocrinol Metab. 2014. PMID: 24170103 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. Among authors: levy i. 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.
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenický P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Trivellin G, et al. Among authors: levy i. N Engl J Med. 2014 Dec 18;371(25):2363-74. doi: 10.1056/NEJMoa1408028. Epub 2014 Dec 3. N Engl J Med. 2014. PMID: 25470569 Free PMC article.
658 results