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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

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

Benefits of a Disease Management Program for SCD in Germany 2011 - 2019: The Increased Use of Hydroxyurea Correlates with a Reduced Frequency of Acute Chest Syndrome

Joachim B. Kunz, Andreas Schlotmann, Andrea Daubenbüchel, Stephan Lobitz, Andrea Jarisch, Regine Grosse, Holger Cario, Lena Oevermann, Dani Hakimeh, Laura Tagliaferri, Andreas E. Kulozik

Blood (2021) 138 (Supplement 1): 973.

https://doi.org/10.1182/blood-2021-148550

Published: 2021

Journal Articles

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

Ayami Yoshimi, MD PhD, Sarah C Grünert, MD, Holger Cario, MD PhD, Ute Gross-Wieltsch, MD, Udo Kontny, MD, Kyogo Suzuki, MD PhD, Stephan Lobitz, MD, Helen Wagner, MD, Irene Schmid, MD, Daniela Karall, MD, Arndt Borkhardt, MD, Miriam Erlacher, Peter Noellke, MPH, Charlotte M. Niemeyer, MD

Blood (2019) 134 (Supplement_1): 3746.

https://doi.org/10.1182/blood-2019-125199

Published: 2019

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

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin

Blood (2017) 130 (7): 875–880.

https://doi.org/10.1182/blood-2017-02-768036

Published: 2017

Includes: Supplemental data

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

Dihydrofolate Reductase Deficiency Is Caused by a Homozygous DHFR Mutation and Leads to Congenital Megaloblastic Anemia and Cerebral Folate Deficiency

Holger Cario, MD, Desiree E.C. Smith, PhD, Henk J. Blom, PhD, Harald Bode, MD, Nenad Blau, PhD, Karlheinz Holzmann, PhD, Ulrich Pannicke, Elisabeth Kohne, MD, Klaus-Michael Debatin, MD, Yvo M. Smulders, MD, Klaus Schwarz

Blood (2010) 116 (21): 1006.

https://doi.org/10.1182/blood.V116.21.1006.1006

Published: 2010

Journal Articles

Semi-Quantitative Assessment of Hemosiderin Distribution Accurately Reflects Reductions in Liver Iron Concentration Following Therapy with Deferasirox (Exjade ® , ICL670) or Deferoxamine in Patients with Transfusion-Dependent Anemia.

Yves Deugnier, Bruno Turlin, Martine Ropert, Mohamed Bejaoui, Miranda Athanassiou-Metaxa, Holger Cario, Elliott Vichinsky, Herbert Opitz, Catherine Ressayre-Djaffer, Bertrand Rabault, John Ford

Blood (2005) 106 (11): 2708.

https://doi.org/10.1182/blood.V106.11.2708.2708

Published: 2005

Journal Articles

Clinical and Molecular Findings in Childhood Polycythemia Vera.

Holger Cario, MD, Heike L. Pahl, PhD, Minkov Milen, MD, Reinhard Harald, MD, Elisabeth Kohne, MD, Klaus-Michael Debatin, MD

Blood (2005) 106 (11): 4961.

https://doi.org/10.1182/blood.V106.11.4961.4961

Published: 2005

NARROW

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

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

Benefits of a Disease Management Program for SCD in Germany 2011 - 2019: The Increased Use of Hydroxyurea Correlates with a Reduced Frequency of Acute Chest Syndrome

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

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

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin

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

Dihydrofolate Reductase Deficiency Is Caused by a Homozygous DHFR Mutation and Leads to Congenital Megaloblastic Anemia and Cerebral Folate Deficiency

Semi-Quantitative Assessment of Hemosiderin Distribution Accurately Reflects Reductions in Liver Iron Concentration Following Therapy with Deferasirox (Exjade ® , ICL670) or Deferoxamine in Patients with Transfusion-Dependent Anemia.

Clinical and Molecular Findings in Childhood Polycythemia Vera.

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American Society of Hematology

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ASH Publications

American Society of Hematology

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