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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 2, 2023. (Total: 217537Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Polycythemia and VHL[original query]
The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.
Blood 2004 Mar 103 (5): 1937-40.
Liu Enli, Percy Melanie J, Amos Christopher I, Guan Yongli, Shete Sanjay, Stockton David W, McMullin Mary F, Polyakova Lydia A, Ang Sonny O, Pastore Yves D, Jedlickova Katerina, Lappin Terry R J, Gordeuk Victor, Prchal Josef
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.
Blood 2004 May 103 (10): 3924-32.
Gordeuk Victor R, Sergueeva Adelina I, Miasnikova Galina Y, Okhotin Daniel, Voloshin Yaroslav, Choyke Peter L, Butman John A, Jedlickova Katerina, Prchal Josef T, Polyakova Lydia
Altered cytokine profiles in patients with Chuvash polycythemia.
American journal of hematology 2009 Feb 84 (2): 74-8.
Niu Xiaomei, Miasnikova Galina Y, Sergueeva Adelina I, Polyakova Lydia A, Okhotin Daniel J, Tuktanov Nikolai V, Nouraie Mehdi, Ammosova Tatiana, Nekhai Sergei, Gordeuk Victor
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011 Jun 25 (6): 2001-11.
Formenti Federico, Beer Philip A, Croft Quentin P P, Dorrington Keith L, Gale Daniel P, Lappin Terence R J, Lucas Guy S, Maher Eamonn R, Maxwell Patrick H, McMullin Mary F, O'Connor David F, Percy Melanie J, Pugh Christopher W, Ratcliffe Peter J, Smith Thomas G, Talbot Nick P, Robbins Peter
A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2 positive polycythemia vera: a case report.
BMC cancer 2018 3 18 (1): 286.
Pang Ying, Gupta Garima, Yang Chunzhang, Wang Herui, Huynh Thanh-Truc, Abdullaev Ziedulla, Pack Svetlana D, Percy Melanie J, Lappin Terence R J, Zhuang Zhengping, Pacak Kar
Genetic basis of unexplained erythrocytosis in Indian patients.
European journal of haematology 2019 May .
Mallik Nabhajit, Sharma Prashant, Kaur Hira Jasbir, Chhabra Sanjeev, Sreedharanunni Sreejesh, Kumar Narender, Naseem Shano, Sachdeva Man Updesh Singh, Ahluwalia Jasmina, Malhotra Pankaj, Varma Neelam, Varma Subhash, Das Ree
Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.
eLife 2022 8 11 .
Ohh Michael, Taber Cassandra C, Ferens Fraser G, Tarade Dani
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia.
Medicina (Kaunas, Lithuania) 2022 Aug 58 (8): .
Provenzano Aldesia, Chetta Massimiliano, De Filpo Giuseppina, Cantini Giulia, La Barbera Andrea, Nesi Gabriella, Santi Raffaella, Martinelli Serena, Rapizzi Elena, Luconi Michaela, Maggi Mario, Mannelli Massimo, Ercolino Tonino, Canu Letiz
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