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Journal Articles

Tibetan Enriched PKLR Variant Is Beneficial to High Altitude Adaption By Improving Oxygen Delivery

Jihyun Song, PhD, Virginia Abello, MD, Ricardo Amaru, MD, Adelina Sergueeva, MD, Jainagul Isakova, Penelope A. Kosinski, MS, Brigitte A. van Oirschot, Victor R. Gordeuk, MD, Charles Kung, PhD, Richard van Wijk, PhD, Josef T. Prchal, MD

Blood (2018) 132 (Supplement 1): 1027.

DOI: https://doi.org/10.1182/blood-2018-99-117389

Published: 2018

Journal Articles

Upregulation of Tissue Factor May Contribute to Thrombosis in Polycythemia Vera and Essential Thrombocythemia

Brandi Reeves, MD, Soo Jin Kim, MS, Jihyun Song, PhD, Radhika Gangaraju, MD, Rafal Pawlinski, PhD, Perumal Thiagarajan, MD, Victor R. Gordeuk, MD, Nigel S. Key, MBChB, FRCP, Josef T. Prchal, MD

Blood (2018) 132 (Supplement 1): 2513.

DOI: https://doi.org/10.1182/blood-2018-99-117812

Published: 2018

Journal Articles

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J. L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Helene Dreau, Melissa Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean-Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus-Michael Debatin, Richard Redon, Stéphane Bezieau, Brigitte Bressac-de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard Van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot-Bonnemains, Stéphane Richard, Anne-Paule Gimenez-Roqueplo, Holger Cario, Betty Gardie

Blood (2018) 132 (5): 469–483.

DOI: https://doi.org/10.1182/blood-2018-03-838235

Published: 2018

Includes: Supplemental data

Journal Articles

Thrombosis and Von Willebrand Factor in Chuvash Polycythemia

Victor R. Gordeuk, MD, Dominic W. Chung, PhD, Binal N. Shah, PhD, Junmei Chen, PhD, Adelina Sergueeva, MD, Galina Miasnikova, MD, Josef T. Prchal, MD, José A. López, MD

Blood (2017) 130 (Supplement 1): 2377.

DOI: https://doi.org/10.1182/blood.V130.Suppl_1.2377.2377

Published: 2017

Journal Articles

Hypoxic Response-Dependent Genetic Regulation Revealed By Allele-Specific Expression in Reticulocytes of Chuvash Polycythemia

Xu Zhang, PhD, Jihyun Song, PhD, Binal N. Shah, PhD, Galina Miasnikova, MD, Adelina Sergueeva, MD, Josef T. Prchal, MD, Victor R. Gordeuk, MD

Blood (2017) 130 (Suppl_1): 926.

DOI: https://doi.org/10.1182/blood.V130.Suppl_1.926.926

Published: 2017

Journal Articles

Chuvash Polycythemia Patients from Afghanistan and Southern India Share a Common VHL Gene Haplotype. Support for Its Origin before Asians and Europeans Diverged

Christine Min, Jihyun Song, PhD, Joachim R. Goethert, MD, Soo Jin Kim, MS, Victor R. Gordeuk, MD, Josef T. Prchal, MD, Alan Lubin, MD

Blood (2017) 130 (Suppl_1): 930.

DOI: https://doi.org/10.1182/blood.V130.Suppl_1.930.930

Published: 2017

Journal Articles

Altered Blood Gene Transcription in Chuvash Polycythemia and Its Cell Lineage Specificity

Xu Zhang, PhD, Jihyun Song, PhD, Binal N. Shah, PhD, Galina Miasnikova, MD, Adelina Sergeyeva, MD, Victor R. Gordeuk, MD, Josef T. Prchal, MD

Blood (2016) 128 (22): 1244.

DOI: https://doi.org/10.1182/blood.V128.22.1244.1244

Published: 2016

Journal Articles

Hydroxyurea Treatment Is Associated with Elevated Serum Erythropoietin Concentration but Suppressed Global Hypoxic Transcriptional Responses in Sickle Cell Disease

Xu Zhang, PhD, Wei Zhang, PhD, Binal Shah, PhD, Galina Miasnikova, MD, Adelina Sergueeva, MD, Tatiana Ammosova, PhD, Xiaomei Niu, Mehdi Nouraie, MD PhD, Sergei Nekhai, PhD, Roberto F. Machado, MD, Joe G.N. Garcia, Mark T. Gladwin, MD, Oswaldo L Castro, MD, Victor R. Gordeuk, MD

Blood (2015) 126 (23): 3380.

DOI: https://doi.org/10.1182/blood.V126.23.3380.3380

Published: 2015

Journal Articles

Thrombotic Complications Are Associated with Phlebotomy Therapy in Patients with Chuvash Polycythemia

Adelina Sergueeva, MD, Galina Miasnikova, MD, Ekaterina Lisina, MD, Mehdi Nouraie, MD PhD, Sergei A. Nekhai, PhD, Tatiana Ammosova, PhD, Josef T. Prchal, MD, Xu Zhang, PhD, Victor R. Gordeuk, MD

Blood (2015) 126 (23): 936.

DOI: https://doi.org/10.1182/blood.V126.23.936.936

Published: 2015

Journal Articles

Prevalence of Extramedullary Hematopoiesis, Vertebral, Hepatic and Splenic Hemangioma and Renal Cyst Among Thalassaemic Patients: A Retrospective Study from the Myocardial Iron in Thalassemia (MIOT) Network

Alessia Pepe, Antonella Meloni, Alessandra Briatico Vangosa, Fabrizia Terrazzino, Maria Giovanna Neri, Domenico Maddaloni, Gaetano Roccamo, Sabrina Armari, Aurelio Maggio, MD, Cristina Salvatori, Vincenzo Positano, Paolo Ricchi

Blood (2015) 126 (23): 2154.

DOI: https://doi.org/10.1182/blood.V126.23.2154.2154

Published: 2015

Journal Articles

Spectrum of Mutations Associated with Hereditary Erythrocytosis

Jennifer L Oliveira, MD, Lori A Frederick, BS, Lea M Coon, MS, Molly Susan Hein, BS, Mrinal M Patnaik, MBBS, Ayalew Tefferi, MD, Animesh Pardanani, MBBS, PhD, Stefan K Grebe, MD, PhD, David S Viswanatha, MD, James D Hoyer, MD

Blood (2015) 126 (23): 2140.

DOI: https://doi.org/10.1182/blood.V126.23.2140.2140

Published: 2015

Journal Articles

Bolivian Aymara Natives with Chronic Mountain Sickness Have Autonomous BFU-E Growth

Ricardo Amaru, MD, Ariel Amaru, MD, Hortensia Miguez, Torres Gina, Josue Mamani, Oscar Vera, Heriberto Cuevas, Josef T. Prchal, MD, Jaroslav F Prchal, MD

Blood (2015) 126 (23): 5206.

DOI: https://doi.org/10.1182/blood.V126.23.5206.5206

Published: 2015

Journal Articles

Complications in children and adolescents with Chuvash polycythemia

Adelina I. Sergueeva, Galina Y. Miasnikova, Lydia A. Polyakova, Mehdi Nouraie, Josef T. Prchal, Victor R. Gordeuk

Blood (2015) 125 (2): 414–415.

DOI: https://doi.org/10.1182/blood-2014-10-604660

Published: 2015

Journal Articles

A Comprehensive Study of the VHL -R200W Chuvash Polycythemia Mutation Reveals a Gradual Dysregulation of the Hypoxia Pathway in Oncogenesis

Blood (2014) 124 (21): 4020.

DOI: https://doi.org/10.1182/blood.V124.21.4020.4020

Published: 2014

Journal Articles

The JAK Inhibitor Ruxolitinib Elicits Hematologic and Symptomatic Improvement In Patients With Chuvash Polycythemia

Makiko Ban-Hoefen, MD, Elizabeth K. Engle, PhD, Eric M. Knoche, MD, Charu Kaiwar, Karyn Gordon, Deborah M. Moore, Stephen T. Oh, MD, PhD

Blood (2013) 122 (21): 4051.

DOI: https://doi.org/10.1182/blood.V122.21.4051.4051

Published: 2013

Journal Articles

RUNX1 and NF-E2 Transcriptional Upregulation Is Not Specific For Myeloproliferative Neoplasms But Is Seen In Those Polycythemic Disorders With Augmented HIFs Signaling

Katarina Kapralova, MSc, Lucie Lanikova, PhD, Felipe R Lorenzo V, PhD, Monika Horvathova, PhD, Vladimir Divoky, PhD, Josef T. Prchal, MD

Blood (2013) 122 (21): 2177.

DOI: https://doi.org/10.1182/blood.V122.21.2177.2177

Published: 2013

Journal Articles

Genetic Association Of a MAPK8 Expression Quantitative Trait Locus With Pre-Capillary Pulmonary Hypertension In Sickle Cell Disease

Xu Zhang, PhD, Wei Zhang, PhD, Shwu-Fan Ma, PhD, Ankit A. Desai, MD, Galina Y. Miasnikova, MD, Adelina Sergueeva, MD, Tatiana Ammosova, PhD, Min Xu, Sergei A. Nekhai, PhD, Taimur Abbasi, MD, Nancy G. Casanova, MD, Martin H. Steinberg, MD, Clinton T. Baldwin, PhD, Paola Sebastiani, PhD, Josef Prchal, MD, Rick Kittles, PhD, Joe GN Garcia, MD, Roberto F. Machado, MD, Victor R. Gordeuk, MD

Blood (2013) 122 (21): 991.

DOI: https://doi.org/10.1182/blood.V122.21.991.991

Published: 2013

Journal Articles

A Novel EPO Gene Mutation In a Family With Autosomal Dominant Polycythemia

Felipe R Lorenzo V, PhD, Rebecca Margraf, PhD, Sabina Swierczek, PhD, Kimberly Hickman, Karl Voelkerding, MD, Josef Prchal, MD

Blood (2013) 122 (21): 950.

DOI: https://doi.org/10.1182/blood.V122.21.950.950

Published: 2013

Journal Articles

The Hypoxic Response and Altered Gene Expression in Patients with Sickle Cell Disease

Victor R. Gordeuk, MD, Xu Zhang, PhD, Wei Zhang, PhD, Shwu-Fan Ma, PhD, Galina Miasniakova, MD, Adelina Sergueeva, MD, Tatiana Ammosova, PhD, Min Xu, PhD, Sergei Nekhai, PhD, Josef T. Prchal, MD, Michael Wade, MS, Joe GN Garcia, MD, Roberto Machado, MD

Blood (2012) 120 (21): 3245.

DOI: https://doi.org/10.1182/blood.V120.21.3245.3245

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.

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

Published: 2012

NARROW

Tibetan Enriched PKLR Variant Is Beneficial to High Altitude Adaption By Improving Oxygen Delivery

Upregulation of Tissue Factor May Contribute to Thrombosis in Polycythemia Vera and Essential Thrombocythemia

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Thrombosis and Von Willebrand Factor in Chuvash Polycythemia

Hypoxic Response-Dependent Genetic Regulation Revealed By Allele-Specific Expression in Reticulocytes of Chuvash Polycythemia

Chuvash Polycythemia Patients from Afghanistan and Southern India Share a Common VHL Gene Haplotype. Support for Its Origin before Asians and Europeans Diverged

Altered Blood Gene Transcription in Chuvash Polycythemia and Its Cell Lineage Specificity

Hydroxyurea Treatment Is Associated with Elevated Serum Erythropoietin Concentration but Suppressed Global Hypoxic Transcriptional Responses in Sickle Cell Disease

Thrombotic Complications Are Associated with Phlebotomy Therapy in Patients with Chuvash Polycythemia

Prevalence of Extramedullary Hematopoiesis, Vertebral, Hepatic and Splenic Hemangioma and Renal Cyst Among Thalassaemic Patients: A Retrospective Study from the Myocardial Iron in Thalassemia (MIOT) Network

Spectrum of Mutations Associated with Hereditary Erythrocytosis

Bolivian Aymara Natives with Chronic Mountain Sickness Have Autonomous BFU-E Growth

Complications in children and adolescents with Chuvash polycythemia

A Comprehensive Study of the VHL -R200W Chuvash Polycythemia Mutation Reveals a Gradual Dysregulation of the Hypoxia Pathway in Oncogenesis

The JAK Inhibitor Ruxolitinib Elicits Hematologic and Symptomatic Improvement In Patients With Chuvash Polycythemia

RUNX1 and NF-E2 Transcriptional Upregulation Is Not Specific For Myeloproliferative Neoplasms But Is Seen In Those Polycythemic Disorders With Augmented HIFs Signaling

Genetic Association Of a MAPK8 Expression Quantitative Trait Locus With Pre-Capillary Pulmonary Hypertension In Sickle Cell Disease

A Novel EPO Gene Mutation In a Family With Autosomal Dominant Polycythemia

The Hypoxic Response and Altered Gene Expression in Patients with Sickle Cell Disease

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

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American Society of Hematology

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American Society of Hematology

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