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Journal Articles

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Blood (2022) 139 (16): 2427–2440.

https://doi.org/10.1182/blood.2021010791

Published: 2022

Includes: Supplemental data

Journal Articles

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Blood (2022) 139 (7): 1039–1051.

https://doi.org/10.1182/blood.2021011980

Published: 2022

Includes: Supplemental data

Journal Articles

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Blood (2019) 134 (3): 277–290.

https://doi.org/10.1182/blood.2018893404

Published: 2019

Includes: Supplemental data

Journal Articles

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Blood (2014) 124 (18): 2867–2871.

https://doi.org/10.1182/blood-2014-08-591370

Published: 2014

Includes: Supplemental data

Journal Articles

A double red cells population in a woman with a microcytic anemia

Loïc Garçon, Caroline Kannengiesser

Blood (2014) 123 (6): 808.

https://doi.org/10.1182/blood-2013-10-529933

Published: 2014

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 syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

Blood (2013) 122 (1): 112–123.

https://doi.org/10.1182/blood-2012-08-439083

Published: 2013

Includes: Supplemental data

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

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

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

NARROW

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

A double red cells population in a woman with a microcytic anemia

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

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

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

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

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.

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American Society of Hematology

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American Society of Hematology

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