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Journal Articles

Association of clinical severity with FANCB variant type in Fanconi anemia

Moonjung Jung, Ramanagouda Ramanagoudr-Bhojappa, Sylvie van Twest, Rasim Ozgur Rosti, Vincent Murphy, Winnie Tan, Frank X. Donovan, Francis P. Lach, Danielle C. Kimble, Caroline S. Jiang, Roger Vaughan, Parinda A. Mehta, Filomena Pierri, Carlo Dufour, Arleen D. Auerbach, Andrew J. Deans, Agata Smogorzewska, Settara C. Chandrasekharappa

Blood (2020) 135 (18): 1588–1602.

https://doi.org/10.1182/blood.2019003249

Published: 2020

Includes: Supplemental data

Journal Articles

Hematological Disorders in Human Patients with Son Mutations

Lana Vukadin, Jung-Hyun Kim, PhD, Tara Bly Hackwelder, Nathan Ungerleider, PhD, Erik Flemington, Eun-Young Erin Ahn, PhD

Blood (2019) 134 (Supplement_1): 3709.

https://doi.org/10.1182/blood-2019-130616

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

Changing the Natural History of Fanconi Anemia Complementation Group-A with Gene Therapy: Early Results of U.S. Phase I Study of Lentiviral-Mediated Ex-Vivo FANCA Gene Insertion in Human Stem and Progenitor Cells

Agnieszka Czechowicz, MD PhD, Maria Grazia Roncarolo, MD, Brian C Beard, PhD, Ken Law, PhD, Eileen Nicoletti, MD, Paula Río, PhD, Juan A. Bueren, PhD, Jonathan D Schwartz, MD, Sandeep Soni, MBBS

Blood (2019) 134 (Supplement_1): 3350.

https://doi.org/10.1182/blood-2019-127352

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

Family Trio-Based Whole Genome Optical Mapping Identifies Candidate Structural Variations Predisposing Children to Acute Lymphoblastic Leukemia

Ute Fischer, PhD, Layal Yasin, PhD, Julia Täubner, PhD, Triantafyllia Brozou, MD, Arndt Borkhardt, MD

Blood (2019) 134 (Supplement_1): 5201.

https://doi.org/10.1182/blood-2019-130014

Published: 2019

Journal Articles

Retrospective and Prospective Study of Childhood Autoimmune Hemolytic Anemia. a Preliminary Report from the Red Cell Working Group of the Paediatric Hemato-Oncology Italian Associations (AIEOP)

Blood (2019) 134 (Supplement_1): 947.

https://doi.org/10.1182/blood-2019-124735

Published: 2019

Journal Articles

Breakthroughs in Preclinical Development of Ataluren (PTC124) As Therapeutic Option for Patients Affected By Shwachman-Diamond Syndrome: Towards the First Clinical Trial

Valentino Bezzerri, PhD, Antonio Vella, PhD, Elisabetta D'Aversa, PhD, Martina Api, PhD, Marisole Allegri, MSc, Elena Marinelli Busilacchi, PhD, Giovanna D'Amico, BSc, PhD MSc, Roberto Gambari, PhD, Claudio Sorio, MD PhD, Benedetta Fabrizzi, MD, Vincenzo Bronte, MD, Antonella Poloni, PhD MD, Monica Borgatti, PhD, Marco Cipolli, MD

Blood (2019) 134 (Supplement_1): 451.

https://doi.org/10.1182/blood-2019-127866

Published: 2019

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

Regulation of Erythroid Heme Synthesis By the Mitochondrial Clpx Unfoldase

Catherine Rondelli, Aiden Danoff, Hector Bergonia, Samantha Gillis, Julia Free, John D. Phillips, PhD, Yvette Y Yien, PhD

Blood (2019) 134 (Supplement_1): 427.

https://doi.org/10.1182/blood-2019-132039

Published: 2019

Journal Articles

Transfusion-Dependent Anemia and Coagulopathy in a Porcine Model of Pediatric Extracorporeal Membrane Oxygenation (ECMO)

Christopher Robert Reed, MD, Desiree Bonadonna, MPS, Jeffrey R Everitt, DVM, Victoria Robinson, BA, James Otto, PhD, Gowthami Arepally, MD, Elisabeth T Tracy, MD

Blood (2019) 134 (Supplement_1): 1164.

https://doi.org/10.1182/blood-2019-124524

Published: 2019

Journal Articles

Platelet CD34 Expression and a Congenital Collar Bone Malformation Associated with a Partial CBFB Deletion in a Case with a Bleeding Disorder

Maaike G.J.M. van Bergen, MSc, Joline L. Saes, MD, Annet Simons, PhD, Konnie M. Hebeda, PhD, Yvonne M.C. Henskens, PhD, Britta A.P. Laros-vanGorkom, MD PhD, Saskia E.M. Schols, MD PhD, Frank W.M.B. Preijers, PhD, Marjolijn C. Jongmans, MD PhD, Joop H. Jansen, PhD, Bert A. Van der Reijden, PhD

Blood (2019) 134 (Supplement_1): 1077.

https://doi.org/10.1182/blood-2019-128414

Published: 2019

Journal Articles

Hydroxyurea Exposure throughout Pregnancy in Patients with Sickle-Cell Disease : 4 Case Reports from European Non-Interventional, Multicentric, Prospective Escort-HU Study

Justine Gellen-Dautremer, MD, Sylvain Le Jeune, MD, Marie-Catherine Receveur, MD, Elena Foïs, MD

Blood (2019) 134 (Supplement_1): 1027.

https://doi.org/10.1182/blood-2019-126529

Published: 2019

Journal Articles

Clinical and Cytogenomic Features of Lymphoblastic Leukemia with Intrachromosomal Amplification of Chromosome 21 (iAMP21) in the Context of Constitutional Ring Chromosome 21

Tatiana Tvrdik, PhD MSc, Kristian T. Schafernak, MD MPH, Jeffrey R Jacobsen, MD, Reha Toydemir, MD PhD, Alexandra M Walsh, MD, Bo Hong, MD

Blood (2019) 134 (Supplement_1): 5208.

https://doi.org/10.1182/blood-2019-123766

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

A New Step in Understanding of Fanconi Patients Peripheral Stem Cell Harvesting, a Bridge to Gene Therapy

Jean-Sebastien Diana, MD, Sandra Manceau, PhD, Thierry Leblanc, MD, Chloé Couzin, MD, Alessandra Magnani, MD PhD, Elisa Magrin, PhD, Matthieux Bendavid, MD, Laure Joseph, MD, Marianne Delville, MD, Stephane Blanche, MD, Jean Soulier, MD PhD, Marina Cavazzana, MD PhD, Francois Lefrere, MD

Blood (2019) 134 (Supplement_1): 1970.

https://doi.org/10.1182/blood-2019-128051

Published: 2019

Journal Articles

Real World Data on Obstetric (OC) and Maternal Complications (MC) Occurring in a Cohort of Patients with Ph Negative Myeloproliferative Neoplasms (MPN): Argentinian Multicentric Study

Blood (2019) 134 (Supplement_1): 1669.

https://doi.org/10.1182/blood-2019-131778

Published: 2019

Journal Articles

What Links Neutropenia to Immature Cardiolipin in Patients with Barth Syndrome (tafazzin-deficiency)?

Jihee Sohn, PhD, Thomas Brouse, Najihah Aziz, David B Sykes, MD PhD

Blood (2019) 134 (Supplement_1): 3579.

https://doi.org/10.1182/blood-2019-123680

Published: 2019

NARROW

Association of clinical severity with FANCB variant type in Fanconi anemia

Hematological Disorders in Human Patients with Son Mutations

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

Changing the Natural History of Fanconi Anemia Complementation Group-A with Gene Therapy: Early Results of U.S. Phase I Study of Lentiviral-Mediated Ex-Vivo FANCA Gene Insertion in Human Stem and Progenitor Cells

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

Family Trio-Based Whole Genome Optical Mapping Identifies Candidate Structural Variations Predisposing Children to Acute Lymphoblastic Leukemia

Retrospective and Prospective Study of Childhood Autoimmune Hemolytic Anemia. a Preliminary Report from the Red Cell Working Group of the Paediatric Hemato-Oncology Italian Associations (AIEOP)

Breakthroughs in Preclinical Development of Ataluren (PTC124) As Therapeutic Option for Patients Affected By Shwachman-Diamond Syndrome: Towards the First Clinical Trial

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

Regulation of Erythroid Heme Synthesis By the Mitochondrial Clpx Unfoldase

Transfusion-Dependent Anemia and Coagulopathy in a Porcine Model of Pediatric Extracorporeal Membrane Oxygenation (ECMO)

Platelet CD34 Expression and a Congenital Collar Bone Malformation Associated with a Partial CBFB Deletion in a Case with a Bleeding Disorder

Hydroxyurea Exposure throughout Pregnancy in Patients with Sickle-Cell Disease : 4 Case Reports from European Non-Interventional, Multicentric, Prospective Escort-HU Study

Clinical and Cytogenomic Features of Lymphoblastic Leukemia with Intrachromosomal Amplification of Chromosome 21 (iAMP21) in the Context of Constitutional Ring Chromosome 21

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)

A New Step in Understanding of Fanconi Patients Peripheral Stem Cell Harvesting, a Bridge to Gene Therapy

Real World Data on Obstetric (OC) and Maternal Complications (MC) Occurring in a Cohort of Patients with Ph Negative Myeloproliferative Neoplasms (MPN): Argentinian Multicentric Study

What Links Neutropenia to Immature Cardiolipin in Patients with Barth Syndrome (tafazzin-deficiency)?

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American Society of Hematology

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American Society of Hematology

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