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Items: 13

1.

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.

Gordeuk VR, Miasnikova GY, Sergueeva AI, Lorenzo FR, Zhang X, Song J, Stockton DW, Prchal JT.

Haematologica. 2019 Jul 9. pii: haematol.2019.216267. doi: 10.3324/haematol.2019.216267. [Epub ahead of print]

2.

Complications in children and adolescents with Chuvash polycythemia.

Sergueeva AI, Miasnikova GY, Polyakova LA, Nouraie M, Prchal JT, Gordeuk VR.

Blood. 2015 Jan 8;125(2):414-5. doi: 10.1182/blood-2014-10-604660. No abstract available.

3.

The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).

Tomasic NL, Piterkova L, Huff C, Bilic E, Yoon D, Miasnikova GY, Sergueeva AI, Niu X, Nekhai S, Gordeuk V, Prchal JT.

Haematologica. 2013 Apr;98(4):560-7. doi: 10.3324/haematol.2012.070508. Epub 2013 Feb 12.

4.

Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia).

Sable CA, Aliyu ZY, Dham N, Nouraie M, Sachdev V, Sidenko S, Miasnikova GY, Polyakova LA, Sergueeva AI, Okhotin DJ, Bushuev V, Remaley AT, Niu X, Castro OL, Gladwin MT, Kato GJ, Prchal JT, Gordeuk VR.

Haematologica. 2012 Feb;97(2):193-200. doi: 10.3324/haematol.2011.051839. Epub 2011 Oct 11.

5.

Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression.

Gordeuk VR, Miasnikova GY, Sergueeva AI, Niu X, Nouraie M, Okhotin DJ, Polyakova LA, Ammosova T, Nekhai S, Ganz T, Prchal JT.

Blood. 2011 Nov 10;118(19):5278-82. doi: 10.1182/blood-2011-03-345512. Epub 2011 Aug 29.

6.

The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.

Miasnikova GY, Sergueeva AI, Nouraie M, Niu X, Okhotin DJ, Polyakova LA, Ganz T, Prchal JT, Gordeuk VR.

Haematologica. 2011 Sep;96(9):1371-4. doi: 10.3324/haematol.2011.045609. Epub 2011 May 23.

7.

Increased size of solid organs in patients with Chuvash polycythemia and in mice with altered expression of HIF-1alpha and HIF-2alpha.

Yoon D, Okhotin DV, Kim B, Okhotina Y, Okhotin DJ, Miasnikova GY, Sergueeva AI, Polyakova LA, Maslow A, Lee Y, Semenza GL, Prchal JT, Gordeuk VR.

J Mol Med (Berl). 2010 May;88(5):523-30. doi: 10.1007/s00109-010-0599-0. Epub 2010 Feb 8.

8.

Altered cytokine profiles in patients with Chuvash polycythemia.

Niu X, Miasnikova GY, Sergueeva AI, Polyakova LA, Okhotin DJ, Tuktanov NV, Nouraie M, Ammosova T, Nekhai S, Gordeuk VR.

Am J Hematol. 2009 Feb;84(2):74-8. doi: 10.1002/ajh.21327.

9.

Elevated homocysteine, glutathione and cysteinylglycine concentrations in patients homozygous for the Chuvash polycythemia VHL mutation.

Sergueeva AI, Miasnikova GY, Okhotin DJ, Levina AA, Debebe Z, Ammosova T, Niu X, Romanova EA, Nekhai S, DiBello PM, Jacobsen DW, Prchal JT, Gordeuk VR.

Haematologica. 2008 Feb;93(2):279-82. doi: 10.3324/haematol.11851. Epub 2008 Jan 26.

10.

Endothelin-1, vascular endothelial growth factor and systolic pulmonary artery pressure in patients with Chuvash polycythemia.

Bushuev VI, Miasnikova GY, Sergueeva AI, Polyakova LA, Okhotin D, Gaskin PR, Debebe Z, Nekhai S, Castro OL, Prchal JT, Gordeuk VR.

Haematologica. 2006 Jun;91(6):744-9.

11.

Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

Gordeuk VR, Sergueeva AI, Miasnikova GY, Okhotin D, Voloshin Y, Choyke PL, Butman JA, Jedlickova K, Prchal JT, Polyakova LA.

Blood. 2004 May 15;103(10):3924-32. Epub 2004 Jan 15.

12.

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT.

Nat Genet. 2002 Dec;32(4):614-21. Epub 2002 Nov 4.

PMID:
12415268
13.

Endemic polycythemia in Russia: mutation in the VHL gene.

Ang SO, Chen H, Gordeuk VR, Sergueeva AI, Polyakova LA, Miasnikova GY, Kralovics R, Stockton DW, Prchal JT.

Blood Cells Mol Dis. 2002 Jan-Feb;28(1):57-62.

PMID:
11987242

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