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Journal Articles

Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation

Blood (2023) 142 (Supplement 1): 4107.

https://doi.org/10.1182/blood-2023-172795

Published: 2023

Journal Articles

Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A

Blood (2023) 141 (20): 2520–2536.

https://doi.org/10.1182/blood.2022017584

Published: 2023

Includes: Supplemental data

Journal Articles

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Blood (2022) 139 (21): 3111–3126.

https://doi.org/10.1182/blood.2021011846

Published: 2022

Includes: Supplemental data

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

Whole Exome Sequencing of a Patient with Atypical Congenital Pure Red Cell Aplasia Has Enabled the Identification of a Novel Key Actor of Erythropoiesis That May be Involved in CDAI Physiopathology

Elia Colin, Genevieve Courtois, PhD, Lydie Da Costa, Carine Lefevre, PhD, Michael Dussiot, Julie Galimand, Joël Veiga, Sandra Manceau, David Rizzo, Julie Abraham, MD, Sylvie Fabrega, Stephane Moreau, Marion Delous, Patrick Mayeux, PhD, Leila maouche-Chretien, PhD, Olivier Hermine, Lucile Couronné

Blood (2020) 136 (Supplement 1): 3–4.

https://doi.org/10.1182/blood-2020-136078

Published: 2020

Journal Articles

Diamond-Blackfan anemia

Lydie Da Costa, Thierry Leblanc, Narla Mohandas

Blood (2020) 136 (11): 1262–1273.

https://doi.org/10.1182/blood.2019000947

Published: 2020

Journal Articles

Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing

Julie Galimand, Helene Bourdeau, Odile Fenneteau, Sophie Dreux, Nathalie Couque, PharmD, Severine Drunat, PharmD, PhD, Serge Pissard, PhD, Thierry Leblanc, MD, Anne Lambilliotte, MD, Catherine Thong Vanh, Caroline Alby, jelena-Hélène martinovic-Bouriel, Chloé Quelin, Mohandas Narla, DSc, Anne Cortey, Lydie Da Costa

Blood (2019) 134 (Supplement_1): 3519.

https://doi.org/10.1182/blood-2019-127432

Published: 2019

Journal Articles

Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1

Blood (2019) 133 (12): 1358–1370.

https://doi.org/10.1182/blood-2018-09-875674

Published: 2019

Includes: Supplemental data

Journal Articles

A Small Nucleolar RNA Linked to Diamond-Blackfan Anemia

Adeline Mayeux, Nathalie Montel-Lehry, Manon Saby, Aurore Anton, Narjesse Karboul, Julie Galimand, Helene Bourdeau, Jonathan Levy, Anne-claude Tabet, Mohandas Narla, DSc, Alyson W. MacInnes, Pascale Dufourcq, Patrick Blader, Thierry Leblanc, Marie-francoise O' Donohue, Pierre-Emmanuel Gleizes, Lydie Da Costa

Blood (2018) 132 (Supplement 1): 1299.

https://doi.org/10.1182/blood-2018-99-110663

Published: 2018

Journal Articles

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Blood (2018) 132 (Supplement 1): 4936.

https://doi.org/10.1182/blood-2018-99-111609

Published: 2018

Journal Articles

Silent Cerebral Infarct Pathophysiology Study in Sickle Cell Anemia Children By a Multimodal Approach

Valentine Brousse, MD, David Grévent, MD, Cecile Arnaud, MD, Annie Kamden, MD, Manoelle Kossorotoff, MD PhD, Mariane De Montalembert, MD PhD, Benedicte Boutonnat-Faucher, MD, Slimane Allali, MD, Keyne Charlot, PhD, Philippe Connes, PhD, Lydie Da Costa, Corinne Pondarré, MD PhD, Suzanne Verlhac, MD

Blood (2017) 130 (Supplement 1): 3532.

https://doi.org/10.1182/blood.V130.Suppl_1.3532.3532

Published: 2017

Journal Articles

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

Blood (2017) 130 (Supplement 1): 874.

https://doi.org/10.1182/blood.V130.Suppl_1.874.874

Published: 2017

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

HSP70, the Key to Account for Erythroid Tropism of Diamond-Blackfan Anemia?

Marc Gastou, Sarah Rio, Mickael Dussiot, Narjesse Karboul, Thierry Leblanc, Margaux Sevin, Olivier Bluteau, Narla Mohandas, D.Sc., William Vainchenker, MD PhD, Carmen Garrido, PhD, Eric Solary, MD Prof, Olivier Hermine, Lydie Da Costa, MD PhD

Blood (2015) 126 (23): 671.

https://doi.org/10.1182/blood.V126.23.671.671

Published: 2015

Journal Articles

Defects in DBA: more than meets the eye

Lydie Da Costa

Blood (2013) 122 (6): 856–857.

https://doi.org/10.1182/blood-2013-06-508465

Published: 2013

Journal Articles

Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia

Lilian Varricchio, James Godbold, Stuart A. Scott, Carolyn Whitsett, Lydie Da Costa, Dagmar Pospisilova, Emanuela Garelli, Paola Quarello, Ugo Ramenghi, Anna Rita Migliaccio

Blood (2011) 118 (2): 473–474.

https://doi.org/10.1182/blood-2011-03-342139

Published: 2011

Journal Articles

Distinct Differences in in Vitro Erythroid Proliferation and Differentiation, p53 and Apoptosis Pathways in Diamond-Blackfan Anemia in Conjunction with Depletion of RPS19, RPL5 and RPL11 mRNA.

Hélène Moniz, Corinne Hurtaud, Thierry Leblanc, MD, Gil Tchernia, MD, Narla Mohandas, DSc, Lydie Da Costa, MD, PhD

Blood (2009) 114 (22): 176.

https://doi.org/10.1182/blood.V114.22.176.176

Published: 2009

Journal Articles

Two Distinct Mechanisms Are Responsible for Regulation of Ribosomal Protein S19 Expression Level in Diamond-Blackfan Anemia by NF-κB Pathway.

Corinne Hurtaud, PhD, Aurore Cretien, PhD, Valerie Clayette, PhD, Didier Pisani, PhD, Stephane Giraudier, MD, PhD, Thierry Leblanc, MD, Jean Delaunay, MD, PhD, Gil Tchernia, MD, Narla Mohandas, PhD, Lydie Da Costa, MD, PhD

Blood (2007) 110 (11): 1684.

https://doi.org/10.1182/blood.V110.11.1684.1684

Published: 2007

Journal Articles

Metoclopramide treatment in DBA patients: no complete response in a French prospective study

Thierry M. Leblanc, Lydie Da Costa, Isabelle Marie, Pierre Demolis, Gilbert Tchernia

Blood (2007) 109 (5): 2266–2267.

https://doi.org/10.1182/blood-2006-08-039545

Published: 2007

Journal Articles

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia.

Blood (2006) 108 (11): 181.

https://doi.org/10.1182/blood.V108.11.181.181

Published: 2006

NARROW

Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation

Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis

Whole Exome Sequencing of a Patient with Atypical Congenital Pure Red Cell Aplasia Has Enabled the Identification of a Novel Key Actor of Erythropoiesis That May be Involved in CDAI Physiopathology

Diamond-Blackfan anemia

Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing

Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1

A Small Nucleolar RNA Linked to Diamond-Blackfan Anemia

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Silent Cerebral Infarct Pathophysiology Study in Sickle Cell Anemia Children By a Multimodal Approach

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

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

HSP70, the Key to Account for Erythroid Tropism of Diamond-Blackfan Anemia?

Defects in DBA: more than meets the eye

Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia

Distinct Differences in in Vitro Erythroid Proliferation and Differentiation, p53 and Apoptosis Pathways in Diamond-Blackfan Anemia in Conjunction with Depletion of RPS19, RPL5 and RPL11 mRNA.

Two Distinct Mechanisms Are Responsible for Regulation of Ribosomal Protein S19 Expression Level in Diamond-Blackfan Anemia by NF-κB Pathway.

Metoclopramide treatment in DBA patients: no complete response in a French prospective study

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia.

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American Society of Hematology

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American Society of Hematology

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