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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: raygada m. Eur J Endocrinol. 2015 Jun;172(6):803-11. doi: 10.1530/EJE-14-1154. Eur J Endocrinol. 2015. PMID: 25924874 Free PMC article.
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.
Xekouki P, Szarek E, Bullova P, Giubellino A, Quezado M, Mastroyannis SA, Mastorakos P, Wassif CA, Raygada M, Rentia N, Dye L, Cougnoux A, Koziol D, Sierra Mde L, Lyssikatos C, Belyavskaya E, Malchoff C, Moline J, Eng C, Maher LJ 3rd, Pacak K, Lodish M, Stratakis CA. Xekouki P, et al. Among authors: raygada m. J Clin Endocrinol Metab. 2015 May;100(5):E710-9. doi: 10.1210/jc.2014-4297. Epub 2015 Feb 19. J Clin Endocrinol Metab. 2015. PMID: 25695889 Free PMC article.
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
Boikos SA, Xekouki P, Fumagalli E, Faucz FR, Raygada M, Szarek E, Ball E, Kim SY, Miettinen M, Helman LJ, Carney JA, Pacak K, Stratakis CA. Boikos SA, et al. Among authors: raygada m. Eur J Hum Genet. 2016 Apr;24(4):569-73. doi: 10.1038/ejhg.2015.142. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173966 Free PMC article.
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene.
Nobel YR, Lodish MB, Raygada M, Rivero JD, Faucz FR, Abraham SB, Lyssikatos C, Belyavskaya E, Stratakis CA, Zilbermint M. Nobel YR, et al. Among authors: raygada m. Endocrinol Diabetes Metab Case Rep. 2016;2016:150104. doi: 10.1530/EDM-15-0104. Epub 2016 Jan 7. Endocrinol Diabetes Metab Case Rep. 2016. PMID: 26807262 Free PMC article.
Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations.
King KS, Prodanov T, Kantorovich V, Fojo T, Hewitt JK, Zacharin M, Wesley R, Lodish M, Raygada M, Gimenez-Roqueplo AP, McCormack S, Eisenhofer G, Milosevic D, Kebebew E, Stratakis CA, Pacak K. King KS, et al. Among authors: raygada m. J Clin Oncol. 2011 Nov 1;29(31):4137-42. doi: 10.1200/JCO.2011.34.6353. Epub 2011 Oct 3. J Clin Oncol. 2011. PMID: 21969497 Free PMC article.
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR, Nilsson O, Nella AA, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA. Schernthaner-Reiter MH, et al. Among authors: raygada m. Eur J Pediatr. 2016 May;175(5):727-33. doi: 10.1007/s00431-015-2684-4. Epub 2016 Jan 21. Eur J Pediatr. 2016. PMID: 26795631 Free PMC article.
Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.
Korkut S, Baştuğ O, Raygada M, Hatipoğlu N, Kurtoğlu S, Kendirci M, Lyssikatos C, Stratakis CA. Korkut S, et al. Among authors: raygada m. J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):468-471. doi: 10.4274/jcrpe.2539. Epub 2016 Apr 18. J Clin Res Pediatr Endocrinol. 2016. PMID: 27087023 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. Among authors: raygada m. 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.
54 results