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Pregnancy with Chuvash Polycythaemia and Other Congenital Erythrocytosis.
Dewarrat N, Kaiser J, Baud D, Alberio L, Gavillet M. Dewarrat N, et al. Acta Haematol. 2020;143(1):69-72. doi: 10.1159/000499861. Epub 2019 Jun 5. Acta Haematol. 2020. PMID: 31167179
This original report describes the management of a pregnant woman with congenital erythrocytosis (Chuvash polycythaemia) and reviews the scarce data available in the literature. ...
This original report describes the management of a pregnant woman with congenital erythrocytosis (Chuvash polycythaemia) and r …
Iron deficiency modifies gene expression variation induced by augmented hypoxia sensing.
Zhang X, Zhang W, Ma SF, Miasniakova G, Sergueeva A, Ammosova T, Xu M, Nekhai S, Nourai M, Wade MS, Prchal JT, Garcia JGN, Machado RF, Gordeuk VR. Zhang X, et al. Blood Cells Mol Dis. 2014 Jan;52(1):35-45. doi: 10.1016/j.bcmd.2013.07.016. Epub 2013 Aug 28. Blood Cells Mol Dis. 2014. PMID: 23993337 Free PMC article.
In congenital Chuvash polycythemia (CP), VHL(R200W) homozygosity leads to elevated hypoxia inducible factor (HIF) levels at normoxia. ...
In congenital Chuvash polycythemia (CP), VHL(R200W) homozygosity leads to elevated hypoxia inducible factor (HIF) levels at no …
Commercial air travel and in-flight pulmonary hypertension.
Smith TG, Chang RW, Robbins PA, Dorrington KL. Smith TG, et al. Aviat Space Environ Med. 2013 Jan;84(1):65-7. doi: 10.3357/asem.3451.2013. Aviat Space Environ Med. 2013. PMID: 23305002
The passenger was generally well and frequently traveled by air, but had been diagnosed with Chuvash polycythemia, a genetic condition that is associated with increased hypoxic pulmonary vasoreactivity. ...The use of in-flight supplementary oxygen should be consider …
The passenger was generally well and frequently traveled by air, but had been diagnosed with Chuvash polycythemia, a genetic c …
Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism.
McClain DA, Abuelgasim KA, Nouraie M, Salomon-Andonie J, Niu X, Miasnikova G, Polyakova LA, Sergueeva A, Okhotin DJ, Cherqaoui R, Okhotin D, Cox JE, Swierczek S, Song J, Simon MC, Huang J, Simcox JA, Yoon D, Prchal JT, Gordeuk VR. McClain DA, et al. J Mol Med (Berl). 2013 Jan;91(1):59-67. doi: 10.1007/s00109-012-0961-5. Epub 2012 Sep 27. J Mol Med (Berl). 2013. PMID: 23015148 Free PMC article.
In Chuvash polycythemia, a homozygous 598C>T mutation in the von Hippel-Lindau gene (VHL) leads to an R200W substitution in VHL protein, impaired degradation of alpha-subunits of hypoxia-inducible factor (HIF)-1 and HIF-2, and augmented hypoxic responses during n …
In Chuvash polycythemia, a homozygous 598C>T mutation in the von Hippel-Lindau gene (VHL) leads to an R200W substitution in …
Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia.
van Rooijen E, Voest EE, Logister I, Korving J, Schwerte T, Schulte-Merker S, Giles RH, van Eeden FJ. van Rooijen E, et al. Blood. 2009 Jun 18;113(25):6449-60. doi: 10.1182/blood-2008-07-167890. Epub 2009 Mar 20. Blood. 2009. PMID: 19304954 Free article.
Mutant embryos display a general systemic hypoxic response, including the up-regulation of hypoxia-induced genes by 1 day after fertilization and a severe hyperventilation and cardiophysiologic response. The vhl mutants develop polycythemia with concomitantly increased epo …
Mutant embryos display a general systemic hypoxic response, including the up-regulation of hypoxia-induced genes by 1 day after fertilizatio …
Chuvash-type polycythemia in pregnancy managed by repeated venisections and heparin therapy: a case report.
Sinha A, Sinha D, Krishnamoorthy N, Bakour S. Sinha A, et al. J Reprod Med. 2007 Nov;52(11):1063-4. J Reprod Med. 2007. PMID: 18161409
The results of a molecular analysis of the blood specimen confirmed the diagnosis of Chuvash-type polycythemia due to von Hippel-Lindau gene mutation. ...CONCLUSION: Early institution of heparin is beneficial in the management of Chuvash-type polycythemia
The results of a molecular analysis of the blood specimen confirmed the diagnosis of Chuvash-type polycythemia due to von Hipp …
Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology.
Smith TG, Brooks JT, Balanos GM, Lappin TR, Layton DM, Leedham DL, Liu C, Maxwell PH, McMullin MF, McNamara CJ, Percy MJ, Pugh CW, Ratcliffe PJ, Talbot NP, Treacy M, Robbins PA. Smith TG, et al. PLoS Med. 2006 Jul;3(7):e290. doi: 10.1371/journal.pmed.0030290. PLoS Med. 2006. PMID: 16768548 Free PMC article.
METHODS AND FINDINGS: Twelve participants, three with Chuvash polycythaemia and nine controls, were studied at baseline and during hypoxia. ...CONCLUSIONS: The features observed in this small group of patients with Chuvash polycythaemia are highly char …
METHODS AND FINDINGS: Twelve participants, three with Chuvash polycythaemia and nine controls, were studied at baseline and du …
Vascular complications in Chuvash polycythemia.
Gordeuk VR, Prchal JT. Gordeuk VR, et al. Semin Thromb Hemost. 2006 Apr;32(3):289-94. doi: 10.1055/s-2006-939441. Semin Thromb Hemost. 2006. PMID: 16673284 Review.
Chuvash polycythemia is characterized by a homozygous 598C> T germline mutation in the von Hippel-Lindau gene ( VHL), upregulation of hypoxia-inducible factor-1alpha during normoxia, and resulting augmentation of erythropoietin and several other hypoxia-controlle
Chuvash polycythemia is characterized by a homozygous 598C> T germline mutation in the von Hippel-Lindau gene ( VHL), upreg