These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
25. HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma. Liu Q; Tong D; Liu G; Yi Y; Zhang D; Zhang J; Zhang Y; Huang Z; Li Y; Chen R; Guan Y; Yi X; Jiang J Cancer Biol Ther; 2017 Dec; 18(12):944-947. PubMed ID: 29172931 [TBL] [Abstract][Full Text] [Related]
26. Heritable disorders of oxygen sensing. Semenza GL Am J Med Genet A; 2021 Nov; 185(11):3334-3339. PubMed ID: 34655169 [TBL] [Abstract][Full Text] [Related]
27. Novel mutations in the EPO-R, VHL and EPAS1 genes in the Congenital Erythrocytosis patients. Chandrasekhar C; Pasupuleti SK; Sarma PVGK Blood Cells Mol Dis; 2020 Nov; 85():102479. PubMed ID: 32739800 [TBL] [Abstract][Full Text] [Related]
28. Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?). Bento C; Almeida H; Maia TM; Relvas L; Oliveira AC; Rossi C; Girodon F; Fernandez-Lago C; Aguado-Diaz A; Fraga C; Costa RM; Araújo AL; Silva J; Vitória H; Miguel N; Silveira MP; Martin-Nuñez G; Ribeiro ML Eur J Haematol; 2013 Oct; 91(4):361-8. PubMed ID: 23859443 [TBL] [Abstract][Full Text] [Related]
29. 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; 22(11):2169-76. PubMed ID: 23418310 [TBL] [Abstract][Full Text] [Related]
30. Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene. Al-Sheikh M; Moradkhani K; Lopez M; Wajcman H; Préhu C Blood Cells Mol Dis; 2008; 40(2):160-5. PubMed ID: 17933562 [TBL] [Abstract][Full Text] [Related]
31. Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. Pastore Y; Jedlickova K; Guan Y; Liu E; Fahner J; Hasle H; Prchal JF; Prchal JT Am J Hum Genet; 2003 Aug; 73(2):412-9. PubMed ID: 12844285 [TBL] [Abstract][Full Text] [Related]
39. 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. PubMed ID: 23090011 [TBL] [Abstract][Full Text] [Related]
40. Mutations in the VHL gene in sporadic apparently congenital polycythemia. Pastore YD; Jelinek J; Ang S; Guan Y; Liu E; Jedlickova K; Krishnamurti L; Prchal JT Blood; 2003 Feb; 101(4):1591-5. PubMed ID: 12393546 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]