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Journal Articles

A Novel EGLN1/PHD2 High-Frequency Variant in Tibetans Protects Against Hypoxia-Induced Polycythemia.

Felipe R Lorenzo V, M.D., PhD., Chad Daniel Huff, PhD, Mikko Myllymäki, Sabina Swierczek, PhD, Mohamed E Salama, M.D., Gregg Semenza, MD, PhD, Victor R. Gordeuk, MD, Lynn Jorde, Prof., Peppi Koivunen, MD, PhD, Josef T. Prchal, MD

Blood (2012) 120 (21): 2079.

https://doi.org/10.1182/blood.V120.21.2079.2079

Published: 2012

Journal Articles

Three Novel EPAS1/HIF2A Somatic and Germline mutations Associated with Polycythemia and Pheochromocytoma/Paraganglioma.

Felipe R Lorenzo V, M.D., PhD., Zhengping Zhuang, Chunzhang Yang, Mark Ng Tang Fui, Hariprasad Vankayalapati, Karel Pacak, Josef T. Prchal, MD

Blood (2012) 120 (21): 2080.

https://doi.org/10.1182/blood.V120.21.2080.2080

Published: 2012

Journal Articles

Novel Homozygous VHL Mutation in Exon 2 (413C>T:P138L) Is Associated with Congenital Polycythemia, Elevated Level of RUNX1/AML1 Transcript, but Not with the Cancer.

Lucie Piterkova, PhD, Felipe R Lorenzo V, M.D., PhD., Hari Vankalayapati, MPharm., PhD., Richard A. Drachtman, MD, Josef T. Prchal, MD

Blood (2012) 120 (21): 2081.

https://doi.org/10.1182/blood.V120.21.2081.2081

Published: 2012

Journal Articles

The Tibetan PHD2 Polymorphism Asp4Glu Is Associated with Hypersensitivity of Erythroid Progenitors to EPO and Upregulation of HIF-1 Regulated Genes Hexokinase (HK1) and Glucose Transporter 1 (SLC2A/GLUT1),

Felipe R Lorenzo, V, M.D., PhD, Sabina Swierczek, PhD, Chad Daniel Huff, PhD, Josef T. Prchal, MD

Blood (2011) 118 (21): 3388.

https://doi.org/10.1182/blood.V118.21.3388.3388

Published: 2011

Journal Articles

A Novel PHD2 Mutation Associated with Tibetan Genetic Adaptation to High Altitude Hypoxia.

Felipe R Lorenzo V, M.D., PhD., Tatum S Simonson, Yingzhong Yang, Rili Ge, Josef T. Prchal, MD

Blood (2010) 116 (21): 2602.

https://doi.org/10.1182/blood.V116.21.2602.2602

Published: 2010

NARROW

A Novel EGLN1/PHD2 High-Frequency Variant in Tibetans Protects Against Hypoxia-Induced Polycythemia.

Three Novel EPAS1/HIF2A Somatic and Germline mutations Associated with Polycythemia and Pheochromocytoma/Paraganglioma.

Novel Homozygous VHL Mutation in Exon 2 (413C>T:P138L) Is Associated with Congenital Polycythemia, Elevated Level of RUNX1/AML1 Transcript, but Not with the Cancer.

The Tibetan PHD2 Polymorphism Asp4Glu Is Associated with Hypersensitivity of Erythroid Progenitors to EPO and Upregulation of HIF-1 Regulated Genes Hexokinase (HK1) and Glucose Transporter 1 (SLC2A/GLUT1),

A Novel PHD2 Mutation Associated with Tibetan Genetic Adaptation to High Altitude Hypoxia.

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ASH Publications

American Society of Hematology

A Novel EGLN1/PHD2 High-Frequency Variant in Tibetans Protects Against Hypoxia-Induced Polycythemia.

Three Novel EPAS1/HIF2A Somatic and Germline mutations Associated with Polycythemia and Pheochromocytoma/Paraganglioma.

Novel Homozygous VHL Mutation in Exon 2 (413C>T:P138L) Is Associated with Congenital Polycythemia, Elevated Level of RUNX1/AML1 Transcript, but Not with the Cancer.

The Tibetan PHD2 Polymorphism Asp4Glu Is Associated with Hypersensitivity of Erythroid Progenitors to EPO and Upregulation of HIF-1 Regulated Genes Hexokinase (HK1) and Glucose Transporter 1 (SLC2A/GLUT1),

A Novel PHD2 Mutation Associated with Tibetan Genetic Adaptation to High Altitude Hypoxia.

Email alerts

ASH Publications

American Society of Hematology

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