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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

The Clinical Severity of Alpha-2 Globin Gene Variants: Homozygosity for Hb Agrinio ( HBA2 : c.89T>C) Leads to Severe Antenatal Anemia, about 8 Cases in 3 Families

Claire Berger, MD, Philippe Joly, PhD, Serge Pissard, PhD, Sandrine Baron-Joly, MD, Yoann Huguenin, MD, Aurélie Cantais, MD, Sophie Brun, MD, Cecile GED, MD, Catherine Badens, PhD PharmD, Muriel Giansily-Blaizot, MD, Aguilar-Martinez Patricia, MD PhD, Isabelle Thuret, MD

Blood (2020) 136 (Supplement 1): 3–4.

https://doi.org/10.1182/blood-2020-134894

Published: 2020

Journal Articles

Inherited and Acquired Modifiers of Iron Status May Dramatically Affect the Phenotypic Expression of Dehydrated Hereditary Stomatocytosis

Corentin Orvain, Lydie Da Costa, MD PhD, Richard van Wijk, PhD, Serge Pissard, MD PhD, Veronique Picard, MD PhD, Lamisse Mansour-Hendili, PharmD, Muriel Giansily-Blaizot, MD PhD, Guillaume Cartron, MD PhD, Jean-Francois Schved, MD PhD, Patricia Aguilar-Martinez, MD PhD

Blood (2016) 128 (22): 1281.

https://doi.org/10.1182/blood.V128.22.1281.1281

Published: 2016

Journal Articles

Prospective Evaluation of Bleeding Incidence in Fibrinogen Deficiency (PRO-RBDD Study)

Blood (2016) 128 (22): 207.

https://doi.org/10.1182/blood.V128.22.207.207

Published: 2016

Journal Articles

Prospective Data Collection on Patients with Fibrinogen and Factor XIII Deficiencies: Prelimary Results of the PRO-RBDD Project

Blood (2014) 124 (21): 2838.

https://doi.org/10.1182/blood.V124.21.2838.2838

Published: 2014

Journal Articles

Coagulation Factor Activity Level and Clinical Bleeding Severity in Rare Bleeding Disorders: Results From the European Network of Rare Bleeding Disorders (EN-RBD),

Blood (2011) 118 (21): 3312.

https://doi.org/10.1182/blood.V118.21.3312.3312

Published: 2011

Journal Articles

Replacement Therapy for Minor Surgery and Invasive Procedures in Factor VII Deficiency: The STER Experience

Blood (2011) 118 (21): 1262.

https://doi.org/10.1182/blood.V118.21.1262.1262

Published: 2011

Journal Articles

At Disease Presentation, Severity of the Bleeding Symptom Predicts the Following Bleeds in Patients with FVII Deficiency

Matteo ND Di Minno, Angelika Batorova, MD, PhD, Mariasanta Napolitano, MD, Alberto Dolce, PhD, Giovanni Di Minno, MD, Francesco Bernardi, PhD, Jean-Francois Schved, Jørgen Ingerslev, MD, Muriel Giansily-Blaizot, MD, PhD, Guenter K.H. Auerswald, Sr., MD, Guglielmo Mariani, MD

Blood (2011) 118 (21): 30.

https://doi.org/10.1182/blood.V118.21.30.30

Published: 2011

Journal Articles

Prophylaxis In Congenital Factor VII Deficiency, Indications, Efficacy and Safety: Results of the STER

Mariasanta Napolitano, MD, Muriel Giansily-Blaizot, MD, PhD, Alberto Dolce, PhD, Jens Bierre Knudsen, PhD, Jean-Francois Schved, MD, PhD, Guenter Auerswald, MD, Jorgen Ingerslev, MD, Tahir S Shamsi, MD, Carmen Altisent, MD, Pimlak Chararoenkwan, MD, Lisa Michaels, MD, Ampaiwan Chuansumrit, MD, Giovanni di Minno, MD, Umran Caliskan, MD, Guglielmo Mariani, MD

Blood (2010) 116 (21): 665.

https://doi.org/10.1182/blood.V116.21.665.665

Published: 2010

Journal Articles

The Southern French Registry of Genetic Hemochromatosis, a Tool for Determination of Clinical Prevalence and Genotype Penetrance of the Disorder.

Patricia Aguilar-Martinez, MD, PhD, Michael Bismuth, MD, Francois Blanc, MD, Pierre Blanc, MD, PhD, Severine Cunat, PhD, Olivier Dereure, MD, PhD, Pierre Dujols, MD, Muriel Giansily-Blaizot, MD, PhD, Christian Jorgensen, MD, PhD, Amadou Konate, MD, Dominique Larrey, MD, Alain Le Quellec, MD, Thibault Mura, MD, Isabelle Raingeard, MD, Jeanne Ramos, MD, Eric Renard, MD, PhD, Florence Rousseau, MD, Jean-Francois Schved, MD, PhD, Marie Christine Picot, MD, PhD

Blood (2009) 114 (22): 4055.

https://doi.org/10.1182/blood.V114.22.4055.4055

Published: 2009

Journal Articles

Successful Treatment of Intra-Cranial Hemorrhage with Repeated Doses of Activated Recombinant FVII in a Newborn with Severe Factor VII Deficiency.

Roula Farah, MD, Dany Hamod, MD, Elie Bechara, MD, Nancy Melick, MD, Paul Hage, MD, Muriel Giansily-Blaizot, MD, Ahmed S. Sallah, MD

Blood (2006) 108 (11): 4047.

https://doi.org/10.1182/blood.V108.11.4047.4047

Published: 2006

NARROW

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis

The Clinical Severity of Alpha-2 Globin Gene Variants: Homozygosity for Hb Agrinio ( HBA2 : c.89T>C) Leads to Severe Antenatal Anemia, about 8 Cases in 3 Families

Inherited and Acquired Modifiers of Iron Status May Dramatically Affect the Phenotypic Expression of Dehydrated Hereditary Stomatocytosis

Prospective Evaluation of Bleeding Incidence in Fibrinogen Deficiency (PRO-RBDD Study)

Prospective Data Collection on Patients with Fibrinogen and Factor XIII Deficiencies: Prelimary Results of the PRO-RBDD Project

Coagulation Factor Activity Level and Clinical Bleeding Severity in Rare Bleeding Disorders: Results From the European Network of Rare Bleeding Disorders (EN-RBD),

Replacement Therapy for Minor Surgery and Invasive Procedures in Factor VII Deficiency: The STER Experience

At Disease Presentation, Severity of the Bleeding Symptom Predicts the Following Bleeds in Patients with FVII Deficiency

Prophylaxis In Congenital Factor VII Deficiency, Indications, Efficacy and Safety: Results of the STER

The Southern French Registry of Genetic Hemochromatosis, a Tool for Determination of Clinical Prevalence and Genotype Penetrance of the Disorder.

Successful Treatment of Intra-Cranial Hemorrhage with Repeated Doses of Activated Recombinant FVII in a Newborn with Severe Factor VII Deficiency.

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American Society of Hematology

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ASH Publications

American Society of Hematology

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