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Journal Articles

Recursive Partitioning As a Tool for Differential Diagnosis between Acquired and Inherited Bone Marrow Failure Syndromes (BMF)

Eléonore Kaphan, Anouk Walter Petrich, Lise Larcher, Thierry Leblanc, Mony Fahd, Benedicte Bruno, Edouard Forcade, Cecile Renard, Arthur Sterin, Michael Loschi, Elodie Lainey, Jean Soulier, Caroline Kannengiesser, Gerard Socie, Regis Peffault De Latour, Jerome Lambert, Flore Sicre de Fontbrune

Blood (2024) 144 (Supplement 1): 1314.

https://doi.org/10.1182/blood-2024-201084

Published: 2024

Journal Articles

Novel Germline ZCCHC8 Mutations Causes Dyskeratosis Congenita with Genetic Rescue By Uniparental Disomy of Chromosome 12q

Flavia S. Donaires, Sophie de Tocqueville, Marilia Bazzo Catto, Luiz Fernando Bazzo Catto, Emma M. Groarke, Barbara A. Santana, Settara C Chandrasekharappa, Frank X. Donovan, Carine Halfon-Domenech, Neal S. Young, Caroline Kannengiesser, Rodrigo T. Calado, Patrick Revy, Fernanda Gutierrez-Rodrigues

Blood (2024) 144 (Supplement 1): 1330.

https://doi.org/10.1182/blood-2024-205711

Published: 2024

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

Recursive Partitioning As a Tool for Differential Diagnosis between Acquired and Inherited Bone Marrow Failure Syndromes (BMF)

Novel Germline ZCCHC8 Mutations Causes Dyskeratosis Congenita with Genetic Rescue By Uniparental Disomy of Chromosome 12q

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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ASH Publications

American Society of Hematology

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