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Journal Articles

Seven Cases of JAK2 Mutation Negative Chronic Polycythemia Patients with Elevated IGF-1R

Guanfang Shi, PhD, Rewais Morcus, MD, Maksim Liaukovich, MD, Ching Wong, MD, Vladimir Gotlieb, Jen-Chin Wang, MD

Blood (2019) 134 (Supplement_1): 5389.

https://doi.org/10.1182/blood-2019-123006

Published: 2019

Journal Articles

A Review of 1000 Molecular Investigations of Rare Inherited Anaemia and Related Conditions with the Red Cell Gene Panel

Rachel Mayhew, Frances Smith, Laura Steedman, Nicholas Parkin, Eva Moldes Beiro, Peter Rushton, Alison Bybee, David Brawand, Judith Marsh, Austin G. Kulasekararaj, MBBS, MD MRCP, FRCPath, Shreyans Ghandi, Sahar Mansour, Ghulam Mufti, Antonio Pagliuca, Subarna Chakravorty, David C Rees, Barnaby Clark

Blood (2018) 132 (Supplement 1): 3609.

https://doi.org/10.1182/blood-2018-99-118799

Published: 2018

Journal Articles

Familial Polycythemia Likely Due to Novel Hemoglobin Variant Hemoglobin Hyden

Sandhya Kolagatla, Nagabhishek Moka, MD, Samuel D. Bailey, MD

Blood (2018) 132 (Supplement 1): 4925.

https://doi.org/10.1182/blood-2018-99-119590

Published: 2018

Journal Articles

Next-Generation Sequencing (NGS) in Childhood Myeloproliferative Diseases (MPD)

Michelina Santopietro, MD, Giovanna Palumbo, MD, Maria Luisa Moleti, MD, Anna Maria Testi, MD, Luisa Cardarelli, MD, Nicola Monaco, MDcal Student, Francesco Malaspina, MD, Camilla Presicce, MDcal Student, Sonia Maria Orlando, Alessandro Pancrazzi, PhD, Annalisa Pacilli, PhD, Giada Rotunno, PhD, Alessandro M. Vannucchi, MD, Robin Foà, MD, Fiorina Giona, MD

Blood (2018) 132 (Supplement 1): 3049.

https://doi.org/10.1182/blood-2018-99-118102

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.

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

Published: 2018

Includes: Supplemental data

Journal Articles

A Gain-of-Function Mutation in EPO Gene Causes Familial Erythrocytosis

Jakub Zmajkovic, MS, Pontus Lundberg, PhD, Ronny Nienhold, PhD, Anders Sundan, PhD, Anders Waage, MD PhD, Radek C. Skoda, MD

Blood (2017) 130 (Supplement 1): 1653.

https://doi.org/10.1182/blood.V130.Suppl_1.1653.1653

Published: 2017

Journal Articles

Selective Proliferation of Gene-Modified Human Erythroid Cells with Truncated Erythropoietin Receptors

Naoya Uchida, MD PhD, Anna Shvygin, Lydia Raines, Juan Jesus J. Haro Mora, PhD, Selami Demirci, PhD, Matthew M. Hsieh, MD, John F Tisdale, MD

Blood (2017) 130 (Supplement 1): 3338.

https://doi.org/10.1182/blood.V130.Suppl_1.3338.3338

Published: 2017

Journal Articles

Thromboembolic and Vascular Complications in Patients with Secondary Erythrocytosis Caused By High Oxygen Affinity Variant Hb Coimbra

Bruna Cunha Santos, Susan Elisabeth Jorge, BS, PhD, Dulcinéia Martins de Albuquerque, Simone Cristina Olenscki Gilli, MD PhD, Maria de Fátima Sonati, Kleber Yotsumoto Fertrin, MD PhD, Fernando Ferreira Costa, MD PhD

Blood (2017) 130 (Supplement 1): 3526.

https://doi.org/10.1182/blood.V130.Suppl_1.3526.3526

Published: 2017

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.

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

Published: 2014

Journal Articles

JAK2 E846D Germline Mutation Associated with Erythrocytosis Causes Increased and Prolonged Epo-Induced Activation of STAT5

Katarina Kapralova, MSc, Monika Horvathova, PhD, Jana Kucerova, PhD, Dagmar Pospisilova, MD PhD, Emilie Leroy, Stefan N. Constantinescu, MD PhD, Vladimir Divoky, PhD

Blood (2014) 124 (21): 4008.

https://doi.org/10.1182/blood.V124.21.4008.4008

Published: 2014

Journal Articles

Polycythemia-Inducing Mutations In The Erythropoietin Receptor (EPOR): Mechanism and Function Elucidated By EGFR– EPOR Chimeras

Mor Gross, Nathalie Ben-Califa, PhD, Hans Carl Hasselbalch, MD, DMSc, Mary Frances McMullin, MD, Melanie Percy, PhD, Celeste Bento, MD, Holger Cario, MD, Milen Minkov, MD, PhD, Drorit Neumann, PhD

Blood (2013) 122 (21): 2174.

https://doi.org/10.1182/blood.V122.21.2174.2174

Published: 2013

Journal Articles

The Clinical Utility Of Next-Generation Sequencing In The Diagnosis Of Polycythemia

Roberto H Nussenzveig, PhD, Mohamed E Salama, MD, Sherrie L. Perkins, MD, PhD, Josef Prchal, MD, Archana M Agarwal, MD

Blood (2013) 122 (21): 2185.

https://doi.org/10.1182/blood.V122.21.2185.2185

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.

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

Published: 2013

Journal Articles

Investigation of the Molecular Basis of High Oxygen Affinity Hemoglobin Brigham (α 2 A β 2 100 Pro→Leu ) In a Subject with Familial Erythrocytosis

Bindu Abraham, Yiping Jia, Francine Wood, Chad Reiter, Jay Nelson Lozier, Jeffery L. Miller, Abdu Alayash

Blood (2010) 116 (21): 4806.

https://doi.org/10.1182/blood.V116.21.4806.4806

Published: 2010

Journal Articles

Dual control: the HIF-2 regulator

Terry Lappin

Blood (2010) 116 (16): 2870–2871.

https://doi.org/10.1182/blood-2010-08-297606

Published: 2010

Journal Articles

Molecular and Clinical Features of the Myeloproliferative Neoplasm Associated with JAK2 Exon 12 Mutations: a European Multicenter Study.

Francesco Passamonti, Susanne Schnittger, François Girodon, Jean-Jacques Kiladjian, Mary Frances McMullin, Marco Ruggeri, Eric Lippert, Alessandro Vannucchi, Carles Besses, Elisa Rumi, Chiara Elena, Torsten Haferlach, Cristiana Pascutto, Mario Cazzola

Blood (2009) 114 (22): 3904.

https://doi.org/10.1182/blood.V114.22.3904.3904

Published: 2009

Journal Articles

Clinical and Biological Features, Treatment and Long-Term Outcome of 65 Children with Ph- Myeloprolipherative Disorders (MPD).

Fiorina Giona, Luciana Teofili, Giovanna Palumbo, Maria Luisa Moleti, Massimiliano Rea, Sonia Maria Orlando, Vittorio Nunes, Anna Maria Testi, Valerio Cecinati, MD, Sara Capodimonte, Mauro Nanni, Luigi Maria Larocca, Robin Foà

Blood (2009) 114 (22): 1889.

https://doi.org/10.1182/blood.V114.22.1889.1889

Published: 2009

Journal Articles

Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis

Gregg L. Semenza

Blood (2009) 114 (10): 2015–2019.

https://doi.org/10.1182/blood-2009-05-189985

Published: 2009

Journal Articles

Enhancment of SCA1 Positive Hematopoietic Progenitors in Polycythemic Mice Inhibits Leukemogenesis

Yaacov Ben-David, PhD, Tatiana Usenko, Mehran Haeri, Laura Vecchiarelli-Federico, Josef T. Prchal, MD

Blood (2008) 112 (11): 5245.

https://doi.org/10.1182/blood.V112.11.5245.5245

Published: 2008

Journal Articles

HIF-2alpha Associated Familial Erythrocytosis Supports the PHD2-HIF- 2alpha-VHL Axis as the Major Regulator of Erythropoietin Production

Melanie Percy, PhD, Paul W Furlow, Philip A Beer, BM, MRCP, MRCPath, Gavin Campbell, Adriaan W. Dekker, MD, Anthony R. Green, PhD, FRCP, FRCPath, Xiping Li, Scott Sutherland, David Oscier, M. Glenn Rainey, Enid Rivera, Richard van Wijk, Marion Wood, Terence R.J. Lappin, PhD, FRCPath, Mary Frances McMullin, Frank S Lee

Blood (2008) 112 (11): 481.

https://doi.org/10.1182/blood.V112.11.481.481

Published: 2008

NARROW

Seven Cases of JAK2 Mutation Negative Chronic Polycythemia Patients with Elevated IGF-1R

A Review of 1000 Molecular Investigations of Rare Inherited Anaemia and Related Conditions with the Red Cell Gene Panel

Familial Polycythemia Likely Due to Novel Hemoglobin Variant Hemoglobin Hyden

Next-Generation Sequencing (NGS) in Childhood Myeloproliferative Diseases (MPD)

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

A Gain-of-Function Mutation in EPO Gene Causes Familial Erythrocytosis

Selective Proliferation of Gene-Modified Human Erythroid Cells with Truncated Erythropoietin Receptors

Thromboembolic and Vascular Complications in Patients with Secondary Erythrocytosis Caused By High Oxygen Affinity Variant Hb Coimbra

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

JAK2 E846D Germline Mutation Associated with Erythrocytosis Causes Increased and Prolonged Epo-Induced Activation of STAT5

Polycythemia-Inducing Mutations In The Erythropoietin Receptor (EPOR): Mechanism and Function Elucidated By EGFR– EPOR Chimeras

The Clinical Utility Of Next-Generation Sequencing In The Diagnosis Of Polycythemia

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

Investigation of the Molecular Basis of High Oxygen Affinity Hemoglobin Brigham (α 2 A β 2 100 Pro→Leu ) In a Subject with Familial Erythrocytosis

Dual control: the HIF-2 regulator

Molecular and Clinical Features of the Myeloproliferative Neoplasm Associated with JAK2 Exon 12 Mutations: a European Multicenter Study.

Clinical and Biological Features, Treatment and Long-Term Outcome of 65 Children with Ph- Myeloprolipherative Disorders (MPD).

Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis

Enhancment of SCA1 Positive Hematopoietic Progenitors in Polycythemic Mice Inhibits Leukemogenesis

HIF-2alpha Associated Familial Erythrocytosis Supports the PHD2-HIF- 2alpha-VHL Axis as the Major Regulator of Erythropoietin Production

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American Society of Hematology

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ASH Publications

American Society of Hematology

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