Page 1 | Search Results | Blood | American Society of Hematology

1-20 of 413

Sort by

Sort Order Select

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

Mutation-Specific Dominant Negative Effects Determine the Phenotype in SRP54 D eficiency

Christoph Schuerch, MSc, Thorsten Schaefer, PhD, Joelle S. Müller, MSc, Pauline Hanns, MSc, Jonas Schärer, BSc, Julia Skokowa, MD PhD, Karl Welte, Raphael Carapito, PhD, Seiamak Bahram, MD, Martina Konantz, PhD, Claudia Lengerke, MD

Blood (2019) 134 (Supplement_1): 437.

https://doi.org/10.1182/blood-2019-127007

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

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

Alternative Donor and Disease-Specific Conditioning Regimen Hematopoietic Stem Cell Transplantation for Inherited Bone Marrow Failure Syndromes

Fang Xu, Min Xiong, Ruijuan Sun, Yanli Zhao, Jianping Zhang, Xingyu Cao, Deyan Liu, Zhijie Wei, Jiarui Zhou, Yue Lu, Peihua Lu, Daopei Lu

Blood (2019) 134 (Supplement_1): 2047.

https://doi.org/10.1182/blood-2019-125695

Published: 2019

Journal Articles

Allogeneic Stem Cell Transplantation Combined with Mesenchymal Stem Cells Transfusion in Primary Myelofibrosis-a Single-Center Retrospective Study

Qingyuan Wang, MD, Limin Liu, MD PhD, Huifen Zhou, Miao Miao, Depei Wu, MD PhD

Blood (2019) 134 (Supplement_1): 2054.

https://doi.org/10.1182/blood-2019-130572

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

Journal Articles

Anemia Is Negatively Correlated with Cardiac Index in Hereditary Hemorrhagic Telangiectasia(HHT) Patients with Liver Arteriovascular Malformations (AVMs)

Hafsa Farooq, MBBS, MD, Alfred I Lee, MD PhD, Lawrence Young, Katharine Henderson

Blood (2019) 134 (Supplement_1): 4811.

https://doi.org/10.1182/blood-2019-129555

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

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

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

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

NARROW

Association of clinical severity with FANCB variant type in Fanconi anemia

Mutation-Specific Dominant Negative Effects Determine the Phenotype in SRP54 D eficiency

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

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

Alternative Donor and Disease-Specific Conditioning Regimen Hematopoietic Stem Cell Transplantation for Inherited Bone Marrow Failure Syndromes

Allogeneic Stem Cell Transplantation Combined with Mesenchymal Stem Cells Transfusion in Primary Myelofibrosis-a Single-Center Retrospective Study

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

Anemia Is Negatively Correlated with Cardiac Index in Hereditary Hemorrhagic Telangiectasia(HHT) Patients with Liver Arteriovascular Malformations (AVMs)

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

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

Hematological Disorders in Human Patients with Son Mutations

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

Email alerts

ASH Publications

American Society of Hematology

Email alerts

ASH Publications

American Society of Hematology

This Feature Is Available To Subscribers Only