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Items: 1 to 20 of 123

1.

First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.

Taïeb D, Yang C, Delenne B, Zhuang Z, Barlier A, Sebag F, Pacak K.

J Clin Endocrinol Metab. 2013 May;98(5):E908-13. doi: 10.1210/jc.2013-1217. Epub 2013 Mar 28.

2.

A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review.

Liu Q, Wang Y, Tong D, Liu G, Yuan W, Zhang J, Ye J, Zhang Y, Yuan G, Feng Q, Zhang D, Jiang J.

Endocr Pathol. 2017 Mar;28(1):75-82. doi: 10.1007/s12022-017-9469-4. Review.

PMID:
28116635
3.

Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male.

Toyoda H, Hirayama J, Sugimoto Y, Uchida K, Ohishi K, Hirayama M, Komada Y.

Pediatrics. 2014 Jun;133(6):e1787-91. doi: 10.1542/peds.2013-2419. Epub 2014 May 12.

4.

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

Lorenzo FR, Yang C, Ng Tang Fui M, Vankayalapati H, Zhuang Z, Huynh T, Grossmann M, Pacak K, Prchal JT.

J Mol Med (Berl). 2013 Apr;91(4):507-12. doi: 10.1007/s00109-012-0967-z. Epub 2012 Oct 23.

5.

A new twist in neuroendocrine tumor research: Pacak-Zhuang syndrome, HIF-2α as the major player in its pathogenesis and future therapeutic options.

Jochmanova I, Lazurova I.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014 Jun;158(2):175-80. doi: 10.5507/bp.2014.021. Epub 2014 Apr 29. Review.

6.

Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.

Buffet A, Smati S, Mansuy L, Ménara M, Lebras M, Heymann MF, Simian C, Favier J, Murat A, Cariou B, Gimenez-Roqueplo AP.

J Clin Endocrinol Metab. 2014 Feb;99(2):E369-73. doi: 10.1210/jc.2013-2600. Epub 2013 Nov 25.

PMID:
24276449
7.

HIF signaling pathway in pheochromocytoma and other neuroendocrine tumors.

Jochmanová I, Zelinka T, Widimský J Jr, Pacak K.

Physiol Res. 2014;63 Suppl 2:S251-62. Review.

8.

Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia.

Yang C, Zhuang Z, Fliedner SM, Shankavaram U, Sun MG, Bullova P, Zhu R, Elkahloun AG, Kourlas PJ, Merino M, Kebebew E, Pacak K.

J Mol Med (Berl). 2015 Jan;93(1):93-104. doi: 10.1007/s00109-014-1205-7. Epub 2014 Sep 30.

PMID:
25263965
9.

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

Comino-Méndez I, de Cubas AA, Bernal C, Álvarez-Escolá C, Sánchez-Malo C, Ramírez-Tortosa CL, Pedrinaci S, Rapizzi E, Ercolino T, Bernini G, Bacca A, Letón R, Pita G, Alonso MR, Leandro-García LJ, Gómez-Graña A, Inglada-Pérez L, Mancikova V, Rodríguez-Antona C, Mannelli M, Robledo M, Cascón A.

Hum Mol Genet. 2013 Jun 1;22(11):2169-76. doi: 10.1093/hmg/ddt069. Epub 2013 Feb 14.

PMID:
23418310
10.

Hypoxia-inducible factor signaling in pheochromocytoma: turning the rudder in the right direction.

Jochmanová I, Yang C, Zhuang Z, Pacak K.

J Natl Cancer Inst. 2013 Sep 4;105(17):1270-83. doi: 10.1093/jnci/djt201. Epub 2013 Aug 12. Review.

11.

Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.

Yang C, Sun MG, Matro J, Huynh TT, Rahimpour S, Prchal JT, Lechan R, Lonser R, Pacak K, Zhuang Z.

Blood. 2013 Mar 28;121(13):2563-6. doi: 10.1182/blood-2012-10-460972. Epub 2013 Jan 29.

12.

The size of the primary tumor and age at initial diagnosis are independent predictors of the metastatic behavior and survival of patients with SDHB-related pheochromocytoma and paraganglioma: a retrospective cohort study.

Schovanek J, Martucci V, Wesley R, Fojo T, Del Rivero J, Huynh T, Adams K, Kebebew E, Frysak Z, Stratakis CA, Pacak K.

BMC Cancer. 2014 Jul 21;14:523. doi: 10.1186/1471-2407-14-523.

13.

New syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Pacak K, Jochmanova I, Prodanov T, Yang C, Merino MJ, Fojo T, Prchal JT, Tischler AS, Lechan RM, Zhuang Z.

J Clin Oncol. 2013 May 1;31(13):1690-8. doi: 10.1200/JCO.2012.47.1912. Epub 2013 Mar 18.

14.

Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options.

Vicha A, Musil Z, Pacak K.

Curr Opin Endocrinol Diabetes Obes. 2013 Jun;20(3):186-91. doi: 10.1097/MED.0b013e32835fcc45. Review.

15.

Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations.

Ercolino T, Becherini L, Valeri A, Maiello M, Gaglianò MS, Parenti G, Ramazzotti M, Piscitelli E, Simi L, Pinzani P, Nesi G, Degl'Innocenti D, Console N, Bergamini C, Mannelli M.

Clin Endocrinol (Oxf). 2008 May;68(5):762-8. Epub 2007 Nov 19.

PMID:
18031321
16.

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.

Zhuang Z, Yang C, Lorenzo F, Merino M, Fojo T, Kebebew E, Popovic V, Stratakis CA, Prchal JT, Pacak K.

N Engl J Med. 2012 Sep 6;367(10):922-30. doi: 10.1056/NEJMoa1205119.

17.

In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.

Toledo RA, Qin Y, Srikantan S, Morales NP, Li Q, Deng Y, Kim SW, Pereira MA, Toledo SP, Su X, Aguiar RC, Dahia PL.

Endocr Relat Cancer. 2013 May 21;20(3):349-59. doi: 10.1530/ERC-13-0101. Print 2013 Jun.

18.

Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.

Perrotta S, Stiehl DP, Punzo F, Scianguetta S, Borriello A, Bencivenga D, Casale M, Nobili B, Fasoli S, Balduzzi A, Cro L, Nytko KJ, Wenger RH, Della Ragione F.

Haematologica. 2013 Oct;98(10):1624-32. doi: 10.3324/haematol.2013.088369. Epub 2013 May 28.

19.

Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

Castellano M, Mori L, Giacchè M, Agliozzo E, Tosini R, Panarotto A, Cappelli C, Mulatero P, Cumetti D, Veglio F, Agabiti-Rosei E.

Ann N Y Acad Sci. 2006 Aug;1073:156-65.

PMID:
17102082
20.

Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma.

Welander J, Andreasson A, Brauckhoff M, Bäckdahl M, Larsson C, Gimm O, Söderkvist P.

Endocr Relat Cancer. 2014 Jun;21(3):495-504. doi: 10.1530/ERC-13-0384. Epub 2014 Apr 16.

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