Pacak K - Search Results

1

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. Lorenzo FR, et al. Among authors: pacak k. J Mol Med (Berl). 2013 Apr;91(4):507-12. doi: 10.1007/s00109-012-0967-z. Epub 2012 Oct 23. J Mol Med (Berl). 2013. PMID: 23090011 Free PMC article.

2

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. Zhuang Z, et al. Among authors: pacak k. N Engl J Med. 2012 Sep 6;367(10):922-30. doi: 10.1056/NEJMoa1205119. N Engl J Med. 2012. PMID: 22931260 Free PMC article.

3

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. Yang C, et al. Among authors: pacak k. Blood. 2013 Mar 28;121(13):2563-6. doi: 10.1182/blood-2012-10-460972. Epub 2013 Jan 29. Blood. 2013. PMID: 23361906 Free PMC article.

4

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. Pacak K, et al. J Clin Oncol. 2013 May 1;31(13):1690-8. doi: 10.1200/JCO.2012.47.1912. Epub 2013 Mar 18. J Clin Oncol. 2013. PMID: 23509317 Free PMC article.

5

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. Taïeb D, et al. Among authors: pacak k. J Clin Endocrinol Metab. 2013 May;98(5):E908-13. doi: 10.1210/jc.2013-1217. Epub 2013 Mar 28. J Clin Endocrinol Metab. 2013. PMID: 23539726 Free PMC article.

6

Ocular manifestations of hypoxia-inducible factor-2α paraganglioma-somatostatinoma-polycythemia syndrome.

Pacak K, Chew EY, Pappo AS, Yang C, Lorenzo FR, Wilson MW, Aronow MB, Young JA, Popovic V, Zhuang Z. Pacak K, et al. Ophthalmology. 2014 Nov;121(11):2291-3. doi: 10.1016/j.ophtha.2014.06.019. Epub 2014 Aug 8. Ophthalmology. 2014. PMID: 25109928 Free PMC article. No abstract available.

7

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. Yang C, et al. Among authors: pacak k. J Mol Med (Berl). 2015 Jan;93(1):93-104. doi: 10.1007/s00109-014-1205-7. Epub 2014 Sep 30. J Mol Med (Berl). 2015. PMID: 25263965

8

Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Yang C, Hong CS, Prchal JT, Balint MT, Pacak K, Zhuang Z. Yang C, et al. Among authors: pacak k. Hum Genome Var. 2015 Dec 10;2:15053. doi: 10.1038/hgv.2015.53. eCollection 2015. Hum Genome Var. 2015. PMID: 27081557 Free PMC article.

9

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

Därr R, Nambuba J, Del Rivero J, Janssen I, Merino M, Todorovic M, Balint B, Jochmanova I, Prchal JT, Lechan RM, Tischler AS, Popovic V, Miljic D, Adams KT, Prall FR, Ling A, Golomb MR, Ferguson M, Nilubol N, Chen CC, Chew E, Taïeb D, Stratakis CA, Fojo T, Yang C, Kebebew E, Zhuang Z, Pacak K. Därr R, et al. Among authors: pacak k. Endocr Relat Cancer. 2016 Dec;23(12):899-908. doi: 10.1530/ERC-16-0231. Epub 2016 Sep 27. Endocr Relat Cancer. 2016. PMID: 27679736 Free PMC article.

10

A novel germline gain-of-function HIF2A mutation in hepatocellular carcinoma with polycythemia.

Yu J, Shi X, Yang C, Bullova P, Hong CS, Nesvick CL, Dmitriev P, Pacak K, Zhuang Z, Cao H, Li L. Yu J, et al. Among authors: pacak k. Aging (Albany NY). 2020 Apr 1;12(7):5781-5791. doi: 10.18632/aging.102967. Epub 2020 Apr 1. Aging (Albany NY). 2020. PMID: 32235007 Free PMC article.

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