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Journal Articles

Whole Genome Sequencing to Detect Small Deletions in Ribosomal Protein Genes in Diamond Blackfan Anemia Patients

Jens Lichtenberg, Jason E. Farrar, MD, David Chelimo, Frederick Horne, NISC Comparative Sequencing Program, Steven Ellis, PhD, Adrianna Vlachos, MD, Jeffrey H. Lipton, PhD MD FRCPC, David M. Bodine, PhD

Blood (2017) 130 (Supplement 1): 1174.

https://doi.org/10.1182/blood.V130.Suppl_1.1174.1174

Published: 2017

Journal Articles

Red cheeks to red cell aplasia: parvovirus B19 in a heart transplant patient

Sam Sadigh, Dale Frank

Blood (2017) 130 (8): 1071.

https://doi.org/10.1182/blood-2017-05-785691

Published: 2017

Journal Articles

Successful Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adults with Inherited Primary Immunodeficiency (PID)

Emma C Morris, MD PhD, Thomas Andrew Fox, MRCP, Siobhan Burns, MD PhD, Ben Carpenter, MD, Kirsty J Thomson, MD, David Lowe, MD PhD, Adele K. Fielding, MB BS, PhD FRCP, FRCPath, Karl S Peggs, MD, Panagiotis Kottaridis, FRCPath, PhD MSc, Victoria Grandage, FRCPath, MRCP, PhD, Shari Denovan, RN, Sarah Grace, RN, Julia Dahlstrom, RN, Sarita Workman, RN, Andrew Symes, RN, Stephen Mackinnon, MD, Ronjon Chakraverty, BMBS, PhD, Rachael Hough, MD BMBS, FRCP, FRCPath

Blood (2016) 128 (22): 4681.

https://doi.org/10.1182/blood.V128.22.4681.4681

Published: 2016

Journal Articles

Erythrocyte Adenosine Deaminase Levels Are Elevated in Classic Diamond Blackfan Anemia but Not in the 5q- Syndrome

Anupama Narla, MD, Natalie Louise Davis, MD, Corinne LaVasseur, BA, Carolyn Wong, Bertil Glader, MD PhD

Blood (2016) 128 (22): 1501.

https://doi.org/10.1182/blood.V128.22.1501.1501

Published: 2016

Journal Articles

Myelodysplastic Syndrome and Gastrointestinal Carcinomas Characterize the Cancer Risk in Diamond Blackfan Anemia: A Report from the Diamond Blackfan Anemia Registry

Adrianna Vlachos, MD, Philip S Rosenberg, PhD, Jessica Kang, BS, Eva Atsidaftos, MA, Blanche P Alter, MD MPH, Jeffrey M Lipton, MD PhD

Blood (2016) 128 (22): 333.

https://doi.org/10.1182/blood.V128.22.333.333

Published: 2016

Journal Articles

Transcriptome Analysis of Erythroid Cells Cultured from Diamond Blackfan Anemia Patients with Ribosomal and GATA1 Mutations Reveals Dysregulation of Inflammatory Response Genes

Kelly O'Brien, PhD, Adrianna Vlachos, Stacie M. Anderson, Crystiana Tsujiura, Lionel Blanc, PhD, Eva Atsidaftos, MA, NIH Intramural Sequencing Center, Jason E. Farrar, MD, Steven R Ellis, PhD, Jeffrey Michael Lipton, MD PhD, David M. Bodine, PhD

Blood (2015) 126 (23): 3605.

https://doi.org/10.1182/blood.V126.23.3605.3605

Published: 2015

Journal Articles

Deleterious Consequences of Diamond Blackfan Anemia on Reproductive Health and Pregnancy Outcomes: A Report from the Diamond Blackfan Anemia Registry (DBAR)

Andrea M Tufano, BS, Diana S Osorio, MD, Eva Atsidaftos, MA, Cristina P. Sison, PhD, Jeffrey M Lipton, MD PhD, Adrianna Vlachos, MD

Blood (2014) 124 (21): 4399.

https://doi.org/10.1182/blood.V124.21.4399.4399

Published: 2014

Journal Articles

Mice with a Mutation in the Mdm2 Gene That Interferes with MDM2/Ribosomal Protein Binding Develop Bone Marrow Failure

Takuya Kamio, MDPhD, Bai-wei Gu, MDPhD, Timothy S. Olson, MDPhD, Yanping Zhang, PhD, Philip J Mason, PhD, Monica Bessler, MDPhD

Blood (2014) 124 (21): 4381.

https://doi.org/10.1182/blood.V124.21.4381.4381

Published: 2014

Journal Articles

Understanding the Role of Erythrocyte Adenosine Deaminase in the Ribosomopathies

Anupama Narla, MD, Bertil Glader, Carolyn Wong

Blood (2014) 124 (21): 5152.

https://doi.org/10.1182/blood.V124.21.5152.5152

Published: 2014

Journal Articles

Dysregulation of the TGF β Pathway in Induced Pluripotent Stem Cells (iPSCs) Generated from Patients with Diamond Blackfan Anemia (DBA)

Jingping Ge, Marisa Apicella, Jason A. Mills, Loic Garcon, Deborah L. French, PhD, Mitchell J. Weiss, MD PhD, Monica Bessler, MDPhD, Philip J Mason, PhD

Blood (2014) 124 (21): 254.

https://doi.org/10.1182/blood.V124.21.254.254

Published: 2014

Journal Articles

Pure Red Cell Aplasia In Major ABO Mismatched Allogeneic Hematopoietic Cell Transplantation Is Associated With Severe Pancytopenia

Fleur M. Aung, MD, Benjamin Lichtiger, MD PhD, Amin Alousi, MD, Sairah Ahmed, MD, Paolo Anderlini, MD, Borje S. Andersson, MD, PhD, Qaiser Bashir, MD, Stefan O. Ciurea, MD, Roy B Jones, PhD MD, Partow Kebriaei, MD, Yago Nieto, MD, PhD, Betul Oran, MD, Simrit Parmar, MD, Muzaffar H. Qazilbash, MD, Nina Shah, MD, Issa Khouri, MD, Elizabeth J Shpall, MD, Richard E Champlin, MD, Uday R Popat, MD

Blood (2013) 122 (21): 5449.

https://doi.org/10.1182/blood.V122.21.5449.5449

Published: 2013

Journal Articles

Defective Nucleotide Metabolism Contributes To p53 Activation In Diamond-Blackfan Anemia

Nadia Danilova, Ph.D, Bibikova Elena, Todd Covey, David Nathanson, Elizabeth Dimitrova, Lindgren Anne, Bertil Glader, M.D., Ph.D, Caius Radu, Kathleen Sakamoto, Shuo Lin

Blood (2013) 122 (21): 1225.

https://doi.org/10.1182/blood.V122.21.1225.1225

Published: 2013

Journal Articles

RPL5 and RPL11 Diamond Blackfan Anaemia Patients Have An Increased Number Of Hypolabated and Non-Lobulated Megakaryocytes In The Bone Marrow

Steven Leak, Yvonne Harrington, RCN, Josu de la Fuente, PhD, FRCP, MRCPCH, FRCPath

Blood (2013) 122 (21): 1229.

https://doi.org/10.1182/blood.V122.21.1229.1229

Published: 2013

Journal Articles

Bone Marrow suppression Due to ferric Carboxymaltose Infusion. First Reported Case

Finella MC Brito-Babapulle, FRCPATH

Blood (2013) 122 (21): 4673.

https://doi.org/10.1182/blood.V122.21.4673.4673

Published: 2013

Journal Articles

Ips Cell Lines From Members Of a Family With Variable Penetrance Of An RPS19 Mutation Recapitulate The Diamond Blackfan Anemia (DBA) Phenotype and Show Differences In Ribosome Biogenesis and TGF Beta Signaling

Jingping Ge, Marisa Apicella, Shwetha Manjunath, Jason A. Mills, Loïc Garçon, Gregory M. Podsakoff, Deborah L. French, Mitchell J. Weiss, Monica Bessler, Philip J. Mason

Blood (2013) 122 (21): 1224.

https://doi.org/10.1182/blood.V122.21.1224.1224

Published: 2013

Journal Articles

A Mouse Model Of Rothmund-Thomson Syndrome Reveals An Essential Role For Recql4 In Maintenance Of Hematopoiesis

Elisabetta DeLuca, Monique Smeets, Meaghan Wall, MBBS (Hons), FRACP, FRCPA, PhD, Julie Quach, Andrew Deans, Jorg Heierhorst, Louise E Purton, PhD, David Izon, Carl R Walkley, PhD, BPharm

Blood (2013) 122 (21): 591.

https://doi.org/10.1182/blood.V122.21.591.591

Published: 2013

Journal Articles

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q− syndrome

Adrianna Vlachos, Jason E. Farrar, Eva Atsidaftos, Ellen Muir, Anupama Narla, Thomas C. Markello, Sharon A. Singh, Michael Landowski, Hanna T. Gazda, Lionel Blanc, Johnson M. Liu, Steven R. Ellis, Robert J. Arceci, Benjamin L. Ebert, David M. Bodine, Jeffrey M. Lipton

Blood (2013) 122 (14): 2487–2490.

https://doi.org/10.1182/blood-2013-06-509935

Published: 2013

Journal Articles

Burst-Forming Unit-Erythroid Assays (BFU-E) Can Help Distinguish Cellular Bone Marrow Failure Disorders

Amy E. DeZern, MD, MHS, Michael A McDevitt, MD, Richard J. Jones, Robert A. Brodsky, MD

Blood (2012) 120 (21): 3475.

https://doi.org/10.1182/blood.V120.21.3475.3475

Published: 2012

Journal Articles

Calmodulin Inhibition Rescues the Effects of Ribosomal Protein Deficiency by Modulating p53 Activity in Models of Diamond Blackfan Anemia

Alison M. Taylor, PhD, David M. Raiser, Jessica M. Humphries, Benjamin L. Ebert, MD, PhD, Leonard I. Zon, MD

Blood (2012) 120 (21): 512.

https://doi.org/10.1182/blood.V120.21.512.512

Published: 2012

Journal Articles

Frequency of Agranulocytosis and Mild Neutropenia During Deferiprone Therapy in Clinical Practice

Mohsen Saleh Elalfy, MD, Shebl Said Shebl, MD, Mohamed A. Badr, MD, Prof, Usama R. Elsafy, MD, Prof, Mostafa A. Salama, MD, Prof, Youssef Al-Tonbary, MD, Yousryeia Abdel Rahman, MD, Mohamad H. Qari, MD, Ghazi Abdullah Al Damnhouri, MD, Zakaria Al Hawsawi, MD, Yasser Ahmed Wali, MD, Prof, M. Akif Yesilipek, MD, Prof, Yurdanur Kilinc, MD, Dilek Yazman, MD, Zeynep Karakas, MD, Fernando Tricta, MD

Blood (2012) 120 (21): 996.

https://doi.org/10.1182/blood.V120.21.996.996

Published: 2012

NARROW

Whole Genome Sequencing to Detect Small Deletions in Ribosomal Protein Genes in Diamond Blackfan Anemia Patients

Red cheeks to red cell aplasia: parvovirus B19 in a heart transplant patient

Successful Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adults with Inherited Primary Immunodeficiency (PID)

Erythrocyte Adenosine Deaminase Levels Are Elevated in Classic Diamond Blackfan Anemia but Not in the 5q- Syndrome

Myelodysplastic Syndrome and Gastrointestinal Carcinomas Characterize the Cancer Risk in Diamond Blackfan Anemia: A Report from the Diamond Blackfan Anemia Registry

Transcriptome Analysis of Erythroid Cells Cultured from Diamond Blackfan Anemia Patients with Ribosomal and GATA1 Mutations Reveals Dysregulation of Inflammatory Response Genes

Deleterious Consequences of Diamond Blackfan Anemia on Reproductive Health and Pregnancy Outcomes: A Report from the Diamond Blackfan Anemia Registry (DBAR)

Mice with a Mutation in the Mdm2 Gene That Interferes with MDM2/Ribosomal Protein Binding Develop Bone Marrow Failure

Understanding the Role of Erythrocyte Adenosine Deaminase in the Ribosomopathies

Dysregulation of the TGF β Pathway in Induced Pluripotent Stem Cells (iPSCs) Generated from Patients with Diamond Blackfan Anemia (DBA)

Pure Red Cell Aplasia In Major ABO Mismatched Allogeneic Hematopoietic Cell Transplantation Is Associated With Severe Pancytopenia

Defective Nucleotide Metabolism Contributes To p53 Activation In Diamond-Blackfan Anemia

RPL5 and RPL11 Diamond Blackfan Anaemia Patients Have An Increased Number Of Hypolabated and Non-Lobulated Megakaryocytes In The Bone Marrow

Bone Marrow suppression Due to ferric Carboxymaltose Infusion. First Reported Case

Ips Cell Lines From Members Of a Family With Variable Penetrance Of An RPS19 Mutation Recapitulate The Diamond Blackfan Anemia (DBA) Phenotype and Show Differences In Ribosome Biogenesis and TGF Beta Signaling

A Mouse Model Of Rothmund-Thomson Syndrome Reveals An Essential Role For Recql4 In Maintenance Of Hematopoiesis

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q− syndrome

Burst-Forming Unit-Erythroid Assays (BFU-E) Can Help Distinguish Cellular Bone Marrow Failure Disorders

Calmodulin Inhibition Rescues the Effects of Ribosomal Protein Deficiency by Modulating p53 Activity in Models of Diamond Blackfan Anemia

Frequency of Agranulocytosis and Mild Neutropenia During Deferiprone Therapy in Clinical Practice

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