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Journal Articles

A New ALAS2 Mutation Inducing a Male Lethal X-Linked Sideroblastic Anemia

Christian Rose, MD, Claire Oudin, Martine Fournier, Alexandre Bouquet, Luca Inchiappa, Bernard Grandchamp, Laurent Gouya, Caroline Kannengiesser

Blood (2013) 122 (21): 2199.

https://doi.org/10.1182/blood.V122.21.2199.2199

Published: 2013

Journal Articles

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene

Bernard Grandchamp, Gilles Hetet, Caroline Kannengiesser, Claire Oudin, Carole Beaumont, Sylvie Rodrigues-Ferreira, Robert Amson, Adam Telerman, Peter Nielsen, Elisabeth Kohne, Christina Balser, Hermann Heimpel

Blood (2011) 118 (25): 6660–6666.

https://doi.org/10.1182/blood-2011-01-329011

Published: 2011

Includes: Supplemental data

Journal Articles

Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations

Bénédicte Dumont, Dominique Lasne, Chantal Rothschild, Maxime Bouabdelli, Véronique Ollivier, Claire Oudin, Nadine Ajzenberg, Bernard Grandchamp, Martine Jandrot-Perrus

Blood (2009) 114 (9): 1900–1903.

https://doi.org/10.1182/blood-2009-03-213504

Published: 2009

Includes: Supplemental data

Journal Articles

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

Laura Silvestri, Flavia Guillem, Alessia Pagani, Antonella Nai, Claire Oudin, Muriel Silva, Fabienne Toutain, Caroline Kannengiesser, Carole Beaumont, Clara Camaschella, Bernard Grandchamp

Blood (2009) 113 (22): 5605–5608.

https://doi.org/10.1182/blood-2008-12-195594

Published: 2009

Includes: Supplemental data

Journal Articles

Absent Collagen-Induced Platelet Activation in a Patient Double Heterozygous for Two GPVI Mutations

Martine Jandrot-Perrus, Bénédicte Dumont, Dominique Lasne, Chantal Rothschild, Bernard Grandchamp, Nadine Ajzenberg

Blood (2008) 112 (11): 88.

https://doi.org/10.1182/blood.V112.11.88.88

Published: 2008

Journal Articles

Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera

Jean-Jacques Kiladjian, Bruno Cassinat, Sylvie Chevret, Pascal Turlure, Nathalie Cambier, Murielle Roussel, Sylvia Bellucci, Bernard Grandchamp, Christine Chomienne, Pierre Fenaux

Blood (2008) 112 (8): 3065–3072.

https://doi.org/10.1182/blood-2008-03-143537

Published: 2008

Journal Articles

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

Flavia Guillem, Sarah Lawson, Caroline Kannengiesser, Mark Westerman, Carole Beaumont, Bernard Grandchamp

Blood (2008) 112 (5): 2089–2091.

https://doi.org/10.1182/blood-2008-05-154740

Published: 2008

Includes: Supplemental data

Journal Articles

X-Linked Sideroblastic Anemia Is a Rare Cause of Microcytosis and Iron Overload in Adults: About 3 Cases with 2 New ALAS2 Gene Mutations Improved after Iron Chelation by Phlebotomy.

Mohamed Touati, Franck Trimoreau, Marie-Pierre Gourin-Chaury, Caroline Kannengiesser, Pascal Turlure, Veronique Loustaud-Ratti, Brigitte Gilbert-Dussardier, Bernard Grandchamp, Dominique Bordessoule

Blood (2007) 110 (11): 4619.

https://doi.org/10.1182/blood.V110.11.4619.4619

Published: 2007

Journal Articles

Peg IFNα-2a in Polycythemia Vera (PV). Results of a Phase 2 Study by the French “PV-NORD” Group.

Jean-Jacques Kiladjian, MD, Bruno Cassinat, MD, Pascal Turlure, MD, Nathalie Cambier, MD, Sylvia Bellucci, MD,PhD, Murielle Roussel, MD, Marie-José Grange, MD, Bernard Grandchamp, MD,PhD, Jean-Didier Rain, MD,PhD, Christine Chomienne, MD,PhD, Pierre Fenaux, MD,PhD

Blood (2006) 108 (11): 670.

https://doi.org/10.1182/blood.V108.11.670.670

Published: 2006

Journal Articles

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload

Carole Beaumont, Jean Delaunay, Gilles Hetet, Bernard Grandchamp, Mariane de Montalembert, Gil Tchernia

Blood (2006) 107 (10): 4168–4170.

https://doi.org/10.1182/blood-2005-10-4269

Published: 2006

Includes: Supplemental data

Journal Articles

Two New Human DMT1 Mutations in a Compound Heterozygous Patient with Microcytic Anemia and Low Iron Stores.

Carole Beaumont, PhD, Jean Delaunay, MD, PhD, Gilles Hetet, Mariane de Montalembert, MD, Bernard Grandchamp, MD, PhD, Gilbert J. Tchernia, MD, PhD

Blood (2005) 106 (11): 3540.

https://doi.org/10.1182/blood.V106.11.3540.3540

Published: 2005

Journal Articles

Analysis of JAK2 Mutation in Essential Thrombocythemia (ET) Patients with Monoclonal and Polyclonal X-Chromosome Inactivation Patterns (XCIPs).

Jean-Jacques Kiladjian, MD, Nahed Elkassar, MD, Gilles Hetet, Nicole Balitrand, Carole Conejero, Stephane Giraudier, MD, Bruno Cassinat, MD, Claude Gardin, MD, Pierre Fenaux, MD, Christine Chomienne, MD, Bernard Grandchamp, MD

Blood (2005) 106 (11): 2603.

https://doi.org/10.1182/blood.V106.11.2603.2603

Published: 2005

Journal Articles

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations

Gilles Hetet, Isabelle Devaux, Nadem Soufir, Bernard Grandchamp, Carole Beaumont

Blood (2003) 102 (5): 1904–1910.

https://doi.org/10.1182/blood-2003-02-0439

Published: 2003

Includes: Supplemental data

Journal Articles

Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation

Laurent Gouya, Herve Puy, Jerôme Lamoril, Vasco Da Silva, Bernard Grandchamp, Yves Nordmann, Jean-Charles Deybach

Blood (1999) 93 (6): 2105–2110.

https://doi.org/10.1182/blood.V93.6.2105.406k28_2105_2110

Published: 1999

Journal Articles

Microsatellite Instability and Frameshift Mutations in BAX and Transforming Growth Factor-β RII Genes Are Very Uncommon in Acute Lymphoblastic Leukemia In Vivo But Not in Cell Lines

Jan J. Molenaar, Bénédicte Gérard, Cécile Chambon-Pautas, Hélène Cavé, Michel Duval, Etienne Vilmer, Bernard Grandchamp

Blood (1998) 92 (1): 230–233.

https://doi.org/10.1182/blood.V92.1.230.413k17_230_233

Published: 1998

Journal Articles

Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia

Catherine M. Fournier, Gaël Nicolas, Patrick G. Gallagher, Didier Dhermy, Bernard Grandchamp, Marie-Christine Lecomte

Blood (1997) 89 (12): 4584–4590.

https://doi.org/10.1182/blood.V89.12.4584

Published: 1997

Journal Articles

Clonality Analysis of Hematopoiesis in Essential Thrombocythemia: Advantages of Studying T Lymphocytes and Platelets

Nahed El-Kassar, Gilles Hetet, Jean Brière, Bernard Grandchamp

Blood (1997) 89 (1): 128–134.

https://doi.org/10.1182/blood.V89.1.128

Published: 1997

NARROW

A New ALAS2 Mutation Inducing a Male Lethal X-Linked Sideroblastic Anemia

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene

Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

Absent Collagen-Induced Platelet Activation in a Patient Double Heterozygous for Two GPVI Mutations

Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

X-Linked Sideroblastic Anemia Is a Rare Cause of Microcytosis and Iron Overload in Adults: About 3 Cases with 2 New ALAS2 Gene Mutations Improved after Iron Chelation by Phlebotomy.

Peg IFNα-2a in Polycythemia Vera (PV). Results of a Phase 2 Study by the French “PV-NORD” Group.

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload

Two New Human DMT1 Mutations in a Compound Heterozygous Patient with Microcytic Anemia and Low Iron Stores.

Analysis of JAK2 Mutation in Essential Thrombocythemia (ET) Patients with Monoclonal and Polyclonal X-Chromosome Inactivation Patterns (XCIPs).

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations

Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation

Microsatellite Instability and Frameshift Mutations in BAX and Transforming Growth Factor-β RII Genes Are Very Uncommon in Acute Lymphoblastic Leukemia In Vivo But Not in Cell Lines

Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia

Clonality Analysis of Hematopoiesis in Essential Thrombocythemia: Advantages of Studying T Lymphocytes and Platelets

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American Society of Hematology

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