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Journal Articles

Identification of Hepatic-like Erythropoietin with Enhanced Activity As a New Cause of Hereditary and Acquired Erythrocytosis

Laurent Martin, Darko Maric, Salam Idriss, Marine Delamare, Amandine Le Roy, Nada Maaziz, Amandine Caillaud, Karim Si-Tayeb, Florence Robriquet, Marion Lenglet, Lucie Erceau, Christine Bellanné-Chantelot, Isabelle Plo, Bernard Aral, Céline Garrec, Fabrice Airaud, Clara Gianfermi, Vincent Antunes, Anna Keppner, Sarah Mathilda Vincent, Alexis Desfontaine, Nina Modé, Fabien Laporte, Anne Gaignerie, Caroline Chariau, Isabelle Leray, Coline Rogue, Laurent David, Richard Redon, Stephane Bezieau, Lamisse Mansour, Frederic Galacteros, Thibault Maillet, Marlène Pasquet, Pierre Cougoul, Anne-Marie Nloga, Claude Gardin, Corinne Guitton, Viviane Dubruille, Vannina Giacobbi-Milet, Thierry Leblanc, Zuhre Kaya, Denis Semama, Chloe James, Serge Carillo, Marlène Ochmann, Anders Waage, Erwan Mortier, Mike Maillasson, Agnès Quéméner, Holger Cario, Radek C. Skoda, Yaël Zermati, David Hoogewijs, Alexandre Marchand, Francois Girodon, Betty Gardie

Blood (2024) 144 (Supplement 2): LBA-2.

https://doi.org/10.1182/blood-2024-213000

Published: 2024

Journal Articles

Hereditary Erythrocytosis: Results from Europe's Largest Idiopathic Erythrocytosis Database

Nada Maaziz, Mathilde Jaillard, Céline Garrec, Fabrice Airaud, Bernard Aral, Stephane Bezieau, Betty Gardie, Francois Girodon

Blood (2024) 144 (Supplement 1): 3842.

https://doi.org/10.1182/blood-2024-207790

Published: 2024

Journal Articles

In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis

Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet, Vincent Antunes, Amandine le Roy, Fabrice Airaud, Bernard Aral, Loic Schmitt, Sébastien Corbineau, Lamisse Mansour-Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Stephane Bezieau, Bruno Cassinat, Frédéric Galactéros, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, Anaise Blouet, Juliette Bouteloup, Françoise Boyer perrard, Aisha Aiko Bruce, Emilie Cayssials, Nicole Casadevall, Brieuc Cherel, Marielaure Couec, Louis Drevon, Cecile Dumesnil, Thierry Lamy De La Chapelle, Marion Gambart, Loic Garcon, Brigitte Granel, Pierre Hirsch, Agnès Lahary, Amira Mejri, Sandrine Meunier, Franck E. Nicolini, Emmanuel Raffoux, Dana Ranta, Nicolas Schleinitz, Jean Baptiste Valentin, Mathieu Wemeau, Francois Girodon, David Hoogewijs, Betty Gardie, Olivier Hermine

Blood (2022) 140 (Supplement 1): 8157–8158.

https://doi.org/10.1182/blood-2022-163123

Published: 2022

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

Polymorphonuclears Display a New Type of Abnormal Cytologic Granules (Chediak Higashi-Like) in a Very Rare Syndrome Linked to a Biallelic Defect of WDR81

Marion Eveillard, PharmD, PhD, Myriam Chevalier, Thomas Besnard, Benjamin Cogne, Alice Kuster, Stephane Bezieau, Marie C Bene, PharmSciD, PhD, Claire Beneteau

Blood (2016) 128 (22): 1331.

https://doi.org/10.1182/blood.V128.22.1331.1331

Published: 2016

Journal Articles

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura

Marie Moatti-Cohen, Céline Garrec, Martine Wolf, Pierre Boisseau, Lionel Galicier, Elie Azoulay, Alain Stepanian, Yahsou Delmas, Eric Rondeau, Stéphane Bezieau, Paul Coppo, Agnès Veyradier

Blood (2012) 119 (24): 5888–5897.

https://doi.org/10.1182/blood-2012-02-408914

Published: 2012

Includes: Supplemental data

NARROW

Identification of Hepatic-like Erythropoietin with Enhanced Activity As a New Cause of Hereditary and Acquired Erythrocytosis

Hereditary Erythrocytosis: Results from Europe's Largest Idiopathic Erythrocytosis Database

In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis

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

Polymorphonuclears Display a New Type of Abnormal Cytologic Granules (Chediak Higashi-Like) in a Very Rare Syndrome Linked to a Biallelic Defect of WDR81

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura

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ASH Publications

American Society of Hematology

Identification of Hepatic-like Erythropoietin with Enhanced Activity As a New Cause of Hereditary and Acquired Erythrocytosis

Hereditary Erythrocytosis: Results from Europe's Largest Idiopathic Erythrocytosis Database

In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis

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

Polymorphonuclears Display a New Type of Abnormal Cytologic Granules (Chediak Higashi-Like) in a Very Rare Syndrome Linked to a Biallelic Defect of WDR81

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura

Email alerts

ASH Publications

American Society of Hematology

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