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Page 1
Primary Aldosteronism and ARMC5 Variants.
Zilbermint M, Xekouki P, Faucz FR, Berthon A, Gkourogianni A, Schernthaner-Reiter MH, Batsis M, Sinaii N, Quezado MM, Merino M, Hodes A, Abraham SB, Libé R, Assié G, Espiard S, Drougat L, Ragazzon B, Davis A, Gebreab SY, Neff R, Kebebew E, Bertherat J, Lodish MB, Stratakis CA. Zilbermint M, et al. J Clin Endocrinol Metab. 2015 Jun;100(6):E900-9. doi: 10.1210/jc.2014-4167. Epub 2015 Mar 30. J Clin Endocrinol Metab. 2015. PMID: 25822102 Free PMC article.
Genetics of Diabetes Insipidus.
Schernthaner-Reiter MH, Stratakis CA, Luger A. Schernthaner-Reiter MH, et al. Endocrinol Metab Clin North Am. 2017 Jun;46(2):305-334. doi: 10.1016/j.ecl.2017.01.002. Epub 2017 Feb 28. Endocrinol Metab Clin North Am. 2017. PMID: 28476225 Review.
MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics.
Schernthaner-Reiter MH, Trivellin G, Stratakis CA. Schernthaner-Reiter MH, et al. Neuroendocrinology. 2016;103(1):18-31. doi: 10.1159/000371819. Epub 2015 Jan 9. Neuroendocrinology. 2016. PMID: 25592387 Free PMC article. Review.
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. 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.
Characterization of GPR101 transcript structure and expression patterns.
Trivellin G, Bjelobaba I, Daly AF, Larco DO, Palmeira L, Faucz FR, Thiry A, Leal LF, Rostomyan L, Quezado M, Schernthaner-Reiter MH, Janjic MM, Villa C, Wu TJ, Stojilkovic SS, Beckers A, Feldman B, Stratakis CA. Trivellin G, et al. J Mol Endocrinol. 2016 Aug;57(2):97-111. doi: 10.1530/JME-16-0045. Epub 2016 Jun 9. J Mol Endocrinol. 2016. PMID: 27282544 Free PMC article.
Growth hormone and risk for cardiac tumors in Carney complex.
Bandettini WP, Karageorgiadis AS, Sinaii N, Rosing DR, Sachdev V, Schernthaner-Reiter MH, Gourgari E, Papadakis GZ, Keil MF, Lyssikatos C, Carney JA, Arai AE, Lodish M, Stratakis CA. Bandettini WP, et al. Endocr Relat Cancer. 2016 Sep;23(9):739-46. doi: 10.1530/ERC-16-0246. Epub 2016 Jul 18. Endocr Relat Cancer. 2016. PMID: 27535175 Free PMC article.
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. 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.
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