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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

Pharmacological Inhibition of Nemo-like Kinase Rescues mTOR-Mediated Translation and Primes Progenitors for Leucine-Stimulated Erythroid Expansion in Pre-Clinical Models of Diamond Blackfan Anemia

Mark C Wilkes, PhD, Jacqueline D Mercado, Mallika Saxena, Jun Chen, MD PhD, Kavitha Siva, PhD, Hee-Don Chae, PhD, Minyoung Youn, PhD, Ethan Patrick Wentworth, Kevin Jung, Ryan Sathianathen, Hiral Patel, Bertil Glader, MD PhD, Anupama Narla, MD, Claire E Repellin, PhD, Hanna T Gazda, MD PhD, Manuel Serrano, PhD, Johan Flygare, MD PhD, Kathleen M. Sakamoto, MD PhD

Blood (2019) 134 (Supplement_1): 455.

https://doi.org/10.1182/blood-2019-129570

Published: 2019

Journal Articles

Stem Cell Transplantation for Diamond-Blackfan Anemia. a Retrospective Study on Behalf of Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT)

Blood (2019) 134 (Supplement_1): 44.

https://doi.org/10.1182/blood-2019-124644

Published: 2019

Journal Articles

Post-Transplant Cyclophosphamide in Allogeneic Bone Marrow Transplantation for the Treatment of Benign Hematologic Diseases

Mark Leick, MD, Bradley Hunter, MD MPH, Zachariah Defilipp, MD, Bimalangshu Dey, MD, Areej El-Jawahri, MD, Matthew J. Frigault, MD, Steven L McAfee, MD, Thomas Spitzer, MD, Paul V. O'Donnell, MD PhD, Yi-Bin Chen

Blood (2019) 134 (Supplement_1): 1978.

https://doi.org/10.1182/blood-2019-128295

Published: 2019

Journal Articles

Pharmacokinetics (PK), Pharmacodynamics (PD) and Safety Comparison of Deferasirox Formulations for Treatment Tailoring

Andrea Piolatto, MS, Carmen Gaglioti, MD, Filomena Longo, MD, Silvia De Francia, PhD, Sarah Allegra, PhD, Paola Berchialla, PhD, Antonio Piga

Blood (2019) 134 (Supplement_1): 3547.

https://doi.org/10.1182/blood-2019-122030

Published: 2019

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

Mutation of Murine Rpl5 reveals a New Model for Diamond Blackfan Anemia Characterized By Defective Erythropoiesis

Philippe Lemay, PhD, Morgan A Jones, MD PhD BS, MS, Fatma Mohamed, Marie-Claude Guyot, Alexander Ludlow, Qing Li, MD, James Douglas Engel, PhD, Renny Franceschi, PhD, Thomas L. Rothstein, MD PhD, Vesa Kaartinen, PhD, Zoha Kibar, PhD, Sharon A Singh, MD

Blood (2019) 134 (Supplement_1): 2495.

https://doi.org/10.1182/blood-2019-131526

Published: 2019

Journal Articles

Disease Modeling and Phenotype Rescue Using Inducible Pluripotent Stem Cells from Patients with Diamond-Blackfan Anemia

Senthil Velan Bhoopalan, MD PhD, Min-Joon Han, PhD, Steven Ellis, PhD, Harry Lesmana, MD, Jeremie H. Estepp, MD, Yoonjeong Jang, DVM,PhD, Mitchell J. Weiss, MD PhD, Marcin W. Wlodarski, MD PhD

Blood (2019) 134 (Supplement_1): 2496.

https://doi.org/10.1182/blood-2019-131354

Published: 2019

Journal Articles

Whole Genome Sequencing Identifies Small Deletions in Ribosomal Genes Causing Diamond Blackfan Anemia

David M. Bodine, PhD, Jens Lichtenberg, Nancy Seidel, NISC Comparative SequencingProgram, G. Jayashree Jagadeesh, John G Conboy, PhD, Jason E. Farrar, MD, Jessica Kang, BS, Lionel Blanc, PhD, Evangelia Atsidaftos, MA, MPH, Steven Ellis, PhD, Jeffrey Michael M Lipton, MD PhD, Adrianna Vlachos, MD

Blood (2019) 134 (Supplement_1): 2502.

https://doi.org/10.1182/blood-2019-121710

Published: 2019

Journal Articles

Predictors of Disease Progression and Survival in Patients with Myelodysplastic Syndrome Secondary to Inherited Bone Marrow Failure Syndromes

Blood (2019) 134 (Supplement_1): 2507.

https://doi.org/10.1182/blood-2019-130129

Published: 2019

Journal Articles

Cells Deficient in the Shwachman-Diamond Syndrome Protein SBDS or the Diamond-Blackfan Anemia Protein RPS19 Have Impaired Homologous Recombination

Elif Asik, PhD, Nimrat Chatterjee, PhD, Alison A. Bertuch, MD PhD

Blood (2019) 134 (Supplement_1): 104.

https://doi.org/10.1182/blood-2019-128953

Published: 2019

Journal Articles

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

Ayami Yoshimi, MD PhD, Sarah C Grünert, MD, Holger Cario, MD PhD, Ute Gross-Wieltsch, MD, Udo Kontny, MD, Kyogo Suzuki, MD PhD, Stephan Lobitz, MD, Helen Wagner, MD, Irene Schmid, MD, Daniela Karall, MD, Arndt Borkhardt, MD, Miriam Erlacher, Peter Noellke, MPH, Charlotte M. Niemeyer, MD

Blood (2019) 134 (Supplement_1): 3746.

https://doi.org/10.1182/blood-2019-125199

Published: 2019

Journal Articles

The Impact of Identifying the Syndromic and Genetic Diagnoses on Hematopoietic Stem Cell Transplantation Outcome in Patients with Inherited Bone Marrow Failure Syndromes

Blood (2019) 134 (Supplement_1): 5015.

https://doi.org/10.1182/blood-2019-121743

Published: 2019

Journal Articles

De Novo Point Mutation of RPL31 in Diamond-Blackfan Anaemia: A Story from Patient to Zebrafish

Yuanyuan Zhu, MD, Honghu Li, doctoral student, Weiyan Zheng, MD, Shuyang Cai, doctoral student, Yibo Wu, doctoral student, He Huang

Blood (2019) 134 (Supplement_1): 5018.

https://doi.org/10.1182/blood-2019-129708

Published: 2019

Journal Articles

Malignancies and MDS in Patients with Diamond-Blackfan Anemia (DBA) from the Czech National DBA Registry

Dagmar Pospisilova, Prof MD PhD, Jaroslav Cermak, Monika Belickova, PhD, Monika Horvathova, MSc, PhD, Jana Volejnikova, MD

Blood (2019) 134 (Supplement_1): 5017.

https://doi.org/10.1182/blood-2019-126187

Published: 2019

Journal Articles

Survival Outcomes Following Allogeneic Stem Cell Transplantation for Inherited Bone Marrow Failure and Myeloid Germline Predisposition Syndromes

Kalyan Nadiminti, Abhishek A Mangaonkar, MBBS, Kimberly J. Langer, D.N.P., C.N.P., Shakila P Khan, MD, Vilmarie Rodriguez, MD, Naseema Gangat, MBBS, Michelle A Elliott, MD, Hassan B. Alkhateeb, MD, Mithun Vinod Shah, MD PhD, Mark Litzow, MD, William J Hogan, MB, BCh, Saad S. Kenderian, MD, Mrinal M Patnaik, MDMBBS

Blood (2019) 134 (Supplement_1): 3300.

https://doi.org/10.1182/blood-2019-121742

Published: 2019

Journal Articles

Untargeted Metabolomics on Dried Blood Spots for the Diagnosis and Clinical Follow up of Rare Hereditary Anemias

Birgit van Dooijeweert, MD, Melissa Broeks, Msc, Judith Jans, PhD, Eduard J. van Beers, MD PhD, Nanda Verhoeven, PhD, Richard van Wijk, PhD, Marije Bartels, MD PhD

Blood (2019) 134 (Supplement_1): 3376.

https://doi.org/10.1182/blood-2019-131693

Published: 2019

Journal Articles

Eltrombopag Improves Erythroid Differentiation in a Human iPSC Model of Diamond Blackfan Anemia

Husam Qanash, MSc, Kaari Linask, Jeanette Beers, Keyvan Keyvanfar, Sara Young-Baird, Waleed Hakami, Richard H. Smith, Jizhong Zou, Andre Larochelle, MD PhD

Blood (2019) 134 (Supplement_1): 1214.

https://doi.org/10.1182/blood-2019-121822

Published: 2019

Journal Articles

Glucocorticoids Induce the Maintenance and Expansion of an Immature CFU-E Erythroid Progenitor Population in Humans

Ryan Ashley, BS, MS, Hongxia Yan, MS, Nan Wang, PhD, John Hale, PhD, Brian M Dulmovits, MS, Julien Papoin, MS, Meagan Olive, Namrata Udeshi, PhD, Steven Carr, PhD, Adrianna Vlachos, MD, Jeffrey Michael M Lipton, MD PhD, Lydie M. Da Costa, MD PhD, Christopher D. Hillyer, MD, Sandrina Kinet, PhD, Naomi Taylor, MD PhD, Mohandas Narla, DSc, Anupama Narla, MD, Lionel Blanc, PhD

Blood (2019) 134 (Supplement_1): 943.

https://doi.org/10.1182/blood-2019-130710

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

NARROW

Diamond-Blackfan anemia

Pharmacological Inhibition of Nemo-like Kinase Rescues mTOR-Mediated Translation and Primes Progenitors for Leucine-Stimulated Erythroid Expansion in Pre-Clinical Models of Diamond Blackfan Anemia

Stem Cell Transplantation for Diamond-Blackfan Anemia. a Retrospective Study on Behalf of Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT)

Post-Transplant Cyclophosphamide in Allogeneic Bone Marrow Transplantation for the Treatment of Benign Hematologic Diseases

Pharmacokinetics (PK), Pharmacodynamics (PD) and Safety Comparison of Deferasirox Formulations for Treatment Tailoring

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

Mutation of Murine Rpl5 reveals a New Model for Diamond Blackfan Anemia Characterized By Defective Erythropoiesis

Disease Modeling and Phenotype Rescue Using Inducible Pluripotent Stem Cells from Patients with Diamond-Blackfan Anemia

Whole Genome Sequencing Identifies Small Deletions in Ribosomal Genes Causing Diamond Blackfan Anemia

Predictors of Disease Progression and Survival in Patients with Myelodysplastic Syndrome Secondary to Inherited Bone Marrow Failure Syndromes

Cells Deficient in the Shwachman-Diamond Syndrome Protein SBDS or the Diamond-Blackfan Anemia Protein RPS19 Have Impaired Homologous Recombination

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

The Impact of Identifying the Syndromic and Genetic Diagnoses on Hematopoietic Stem Cell Transplantation Outcome in Patients with Inherited Bone Marrow Failure Syndromes

De Novo Point Mutation of RPL31 in Diamond-Blackfan Anaemia: A Story from Patient to Zebrafish

Malignancies and MDS in Patients with Diamond-Blackfan Anemia (DBA) from the Czech National DBA Registry

Survival Outcomes Following Allogeneic Stem Cell Transplantation for Inherited Bone Marrow Failure and Myeloid Germline Predisposition Syndromes

Untargeted Metabolomics on Dried Blood Spots for the Diagnosis and Clinical Follow up of Rare Hereditary Anemias

Eltrombopag Improves Erythroid Differentiation in a Human iPSC Model of Diamond Blackfan Anemia

Glucocorticoids Induce the Maintenance and Expansion of an Immature CFU-E Erythroid Progenitor Population in Humans

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

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American Society of Hematology

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American Society of Hematology

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