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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

Identifying News Genes Involved in Unexplained Erythrocytosis Throught a Clinical Database

Fabian Zanchetta-Balint, Nada Maaziz, Nicolas Garcelon, Valerie Cormier-Daire, Betty Gardie, Guillaume Canaud, Ilhem Rahal, Laure Joseph, Francois Lefrere, Stanislas Lyonnet, Thiago Trovati Maciel, Francois Girodon, Olivier Hermine

Blood (2024) 144 (Supplement 1): 5230.

https://doi.org/10.1182/blood-2024-206873

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

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis

Mathilde Filser, Muriel Giansily-Blaizot, Mélanie Grenier, David Monedero Alonso, Guillaume Bouyer, Laurent Pérès, Stéphane Egée, Bernard Aral, Fabrice Airaud, Lydie Da Costa, Véronique Picard, Pierre Cougoul, Marlène Palach, Stéphane Béziau, Céline Garrec, Patricia Aguilar-Martinez, Betty Gardie, François Girodon

Blood (2021) 137 (13): 1828–1832.

https://doi.org/10.1182/blood.2020008424

Published: 2021

Includes: Supplemental data

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

Next Generation Sequencing Is a Useful Tool for the Diagnosis of Congenital/Idiopathic Erythrocytoses

Francois Girodon, MD PhD, Fabrice Airaud, PhD, Garrec Céline, MD, Pacault Mathilde, Dumont Solenne, Ricordeau Ingrid, Bézieau Stéphane, MD PhD, Betty Gardie, PhD

Blood (2016) 128 (22): 2434.

https://doi.org/10.1182/blood.V128.22.2434.2434

Published: 2016

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

Genomic Alterations of the p19 ARF Encoding Exons in T-Cell Acute Lymphoblastic Leukemia

Betty Gardie, Jean-Michel Cayuela, Sophie Martini, François Sigaux

Blood (1998) 91 (3): 1016–1020.

https://doi.org/10.1182/blood.V91.3.1016

Published: 1998

Journal Articles

Disruption of the Multiple Tumor Suppressor Gene MTS1 /p16 INK4a / CDKN2 by Illegitimate V(D)J Recombinase Activity in T-Cell Acute Lymphoblastic Leukemias

Jean-Michel Cayuela, Betty Gardie, François Sigaux

Blood (1997) 90 (9): 3720–3726.

https://doi.org/10.1182/blood.V90.9.3720

Published: 1997

NARROW

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

Identifying News Genes Involved in Unexplained Erythrocytosis Throught a Clinical Database

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

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis

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

Next Generation Sequencing Is a Useful Tool for the Diagnosis of Congenital/Idiopathic Erythrocytoses

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

Genomic Alterations of the p19 ARF Encoding Exons in T-Cell Acute Lymphoblastic Leukemia

Disruption of the Multiple Tumor Suppressor Gene MTS1 /p16 INK4a / CDKN2 by Illegitimate V(D)J Recombinase Activity in T-Cell Acute Lymphoblastic Leukemias

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American Society of Hematology

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ASH Publications

American Society of Hematology

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