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1. Full Text Incidence of neoplasia in Diamond Blackfan anemia: A report from the Diamond Blackfan anemia registry
by Vlachos, Adrianna and Rosenberg, Philip S and Atsidaftos, Eva and Alter, Blanche P and Lipton, Jeffrey M
Blood, ISSN 0006-4971, 04/2012, Volume 119, Issue 16, pp. 3815 - 3819
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by red cell aplasia and congenital anomalies. A predisposition to... 
MARROW FAILURE SYNDROMES | RISKS | NATURAL-HISTORY | HEMATOLOGY | FANCONI-ANEMIA | CANCER | Follow-Up Studies | Comorbidity | Bone Marrow Diseases | Humans | Middle Aged | Risk Factors | Child, Preschool | Neoplasms - mortality | Infant | Male | Anemia, Aplastic | Anemia, Diamond-Blackfan - mortality | Incidence | Young Adult | Registries - statistics & numerical data | Adolescent | Bone Marrow Transplantation | Anemia, Diamond-Blackfan - therapy | Adult | Female | Aged | Hemoglobinuria, Paroxysmal - therapy | Child | Hemoglobinuria, Paroxysmal - mortality | Clinical Trials and Observations | Red Cells, Iron, and Erythropoiesis
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2. Full Text How I treat Diamond-Blackfan anemia
by Vlachos, Adrianna and Muir, Ellen
Blood, ISSN 0006-4971, 11/2010, Volume 116, Issue 19, pp. 3715 - 3723
Diamond-Blackfan anemia (DBA) is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. In addition to being an... 
CYCLOSPORINE THERAPY | RECOMBINANT HUMAN INTERLEUKIN-3 | ORAL MEGADOSE METHYLPREDNISOLONE | CHELATION-THERAPY | CARDIAC IRON | BETA-THALASSEMIA | HEMATOLOGY | IRON OVERLOAD | THALASSEMIA MAJOR | RED-CELL APLASIA | RIBOSOMAL-PROTEIN S19 | Iron Chelating Agents - therapeutic use | Erythrocyte Transfusion | Ribosomal Proteins - genetics | Humans | Hematopoietic Stem Cell Transplantation | Male | Adrenal Cortex Hormones - therapeutic use | Anemia, Diamond-Blackfan - diagnosis | Congenital Abnormalities - diagnosis | Adrenal Cortex Hormones - adverse effects | Complementary Therapies | Anemia, Diamond-Blackfan - genetics | Anemia, Diamond-Blackfan - therapy | Female | Remission, Spontaneous | Congenital Abnormalities - therapy | How I Treat
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3. Full Text Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
by Vlachos, Adrianna and Ball, Sarah and Dahl, Niklas and Alter, Blanche P and Sheth, Sujit and Ramenghi, Ugo and Meerpohl, Joerg and Karlsson, Stefan and Liu, Johnson M and Leblanc, Thierry and Paley, Carole and Kang, Elizabeth M and Leder, Eva Judmann and Atsidaftos, Eva and Shimamura, Akiko and Bessler, Monica and Glader, Bertil and Lipton, Jeffrey M and Sixth Annual Daniella Maria Arturi and Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference and on behalf of the participants of the Sixth Annual Daniella Maria Arturi International Consensus Conference and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Uppsala universitet
British Journal of Haematology, ISSN 0007-1048, 09/2008, Volume 142, Issue 6, pp. 859 - 876
Summary Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per... 
bone marrow failure | treatment | cancer predisposition | genetics | Diamond Blackfan anaemia | Genetics | Cancer predisposition | Treatment | Bone marrow failure | RECOMBINANT HUMAN INTERLEUKIN-3 | ORAL MEGADOSE METHYLPREDNISOLONE | CYCLOSPORINE THERAPY | BONE-MARROW TRANSPLANTATION | TRANSFUSIONAL IRON OVERLOAD | STEM-CELL TRANSPLANTATION | BETA-THALASSEMIA | HEMATOLOGY | ERYTHROID DEVELOPMENT | RIBOSOMAL-PROTEIN S19 | PARVOVIRUS INFECTION | Diagnosis, Differential | Genetic Predisposition to Disease | Glucocorticoids - therapeutic use | Neoplasms - etiology | Erythrocyte Transfusion | Humans | Congenital Abnormalities - etiology | Hematopoietic Stem Cell Transplantation | Treatment Outcome | Anemia, Diamond-Blackfan - diagnosis | Pregnancy | Anemia, Diamond-Blackfan - genetics | Pregnancy Complications, Hematologic - therapy | Anemia, Diamond-Blackfan - therapy | Adult | Female | Anemia, Diamond-Blackfan - complications | Child | Reviews | Medical and Health Sciences | Medicin och hälsovetenskap | MEDICIN | MEDICINE
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4. Full Text Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia
by Horos, Rastislav and Lindern, Marieke
British Journal of Haematology, ISSN 0007-1048, 12/2012, Volume 159, Issue 5, pp. 514 - 527
Summary Diamond Blackfan Anaemia (DBA) is a rare congenital pure red cell aplasia that may be associated with facio‐skeletal developmental defects. The disease... 
Anaemia | molecular analysis | Diamond‐Blackfan | therapy | Diamond-Blackfan | Therapy | Molecular analysis | MESSENGER-RNA TRANSLATION | INITIATION-FACTOR | IRES-MEDIATED TRANSLATION | REGULATED EIF2-ALPHA KINASE | GLUCOCORTICOID-RECEPTOR | HUMAN ERYTHROID-CELLS | DYSKERATOSIS-CONGENITA | POLYMERASE-I TRANSCRIPTION | GENE-EXPRESSION | HEMATOLOGY | RIBOSOMAL-PROTEIN S19 | Anemia, Diamond-Blackfan - genetics | Ribosomal Proteins - genetics | Humans | Anemia, Diamond-Blackfan - therapy | Mutation | Anemia, Diamond-Blackfan - metabolism | Anemia, Diamond-Blackfan - pathology | Ribosomal Proteins - metabolism | RNA | Tumor proteins | Genetic translation | Analysis
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5. Full Text Diamond Blackfan Anemia: Ribosomal Proteins Going Rogue
by Ellis, Steven R and Gleizes, Pierre-Emmanuel
Seminars in Hematology, ISSN 0037-1963, 2011, Volume 48, Issue 2, pp. 89 - 96
Within the decade following the demonstration that mutations in the RPS19 gene can lead to Diamond-Blackfan anemia (DBA), this disease has become a paradigm... 
Hematology, Oncology and Palliative Medicine | ACTIVATION | GENE | RPS19 | BIOGENESIS | RNA | P53-DEPENDENT CHECKPOINT | S19 | P53 FUNCTION | MUTATIONS | CELL-DIFFERENTIATION | HEMATOLOGY | Animals | Anemia, Diamond-Blackfan - genetics | Ribosomal Proteins - genetics | Humans | Anemia, Diamond-Blackfan - therapy | Mutation | Anemia, Diamond-Blackfan - metabolism | Ribosomal Proteins - metabolism | Anemia | Life Sciences | Biochemistry, Molecular Biology
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6. Full Text Toward RNA Repair of Diamond Blackfan Anemia Hematopoietic Stem Cells
by D'Allard, Diane L and Liu, Johnson M
Human Gene Therapy, ISSN 1043-0342, 10/2016, Volume 27, Issue 10, pp. 792 - 801
Diamond blackfan anemia (DBA) is a well-known inherited bone marrow failure syndrome mostly caused by mutations in ribosomal protein (RP) genes but also rarely... 
Mini Reviews | Gene Transfer Techniques | Haploinsufficiency - genetics | RNA Editing - genetics | Ribosomal Proteins - genetics | Mutation, Missense - genetics | Ribosomal Proteins - therapeutic use | Anemia, Diamond-Blackfan - genetics | GATA1 Transcription Factor - genetics | Anemia, Diamond-Blackfan - therapy | Anemia, Diamond-Blackfan - pathology | Trans-Splicing - genetics | Genetic Therapy - methods | Hematopoietic Stem Cells
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7. Full Text Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors
by Doulatov, Sergei and Vo, Linda T and Macari, Elizabeth R and Wahlster, Lara and Kinney, Melissa A and Taylor, Alison M and Barragan, Jessica and Gupta, Manav and McGrath, Katherine and Lee, Hsiang-Ying and Humphries, Jessica M and Devine, Alex and Narla, Anupama and Alter, Blanche P and Beggs, Alan H and Agarwal, Suneet and Ebert, Benjamin L and Gazda, Hanna T and Lodish, Harvey F and Sieff, Colin A and Schlaeger, Thorsten M and Zon, Leonard I and Daley, George Q
Science Translational Medicine, ISSN 1946-6234, 02/2017, Volume 9, Issue 376, p. eaah5645
Diamond-Blackfan anemia (DBA) is a congenital disorder characterized by the failure of erythroid progenitor differentiation, severely curtailing red blood cell... 
PLURIPOTENT STEM-CELLS | MEDICINE, RESEARCH & EXPERIMENTAL | REGULATOR | GENE | ERYTHROPOIESIS | GENERATION | AUTOPHAGY | DYSFUNCTION | MUTATIONS | PRECURSORS | RIBOSOMAL-PROTEIN S19 | CELL BIOLOGY | Hematopoietic Stem Cells - drug effects | Antigens, CD34 - metabolism | Induced Pluripotent Stem Cells - drug effects | Humans | Hematopoietic Stem Cell Transplantation | Erythropoiesis - drug effects | Hematopoietic Stem Cells - metabolism | Globins - metabolism | Allyl Compounds - pharmacology | Drug Discovery | Genetic Complementation Test | Autophagy - drug effects | Cellular Reprogramming | Anemia, Diamond-Blackfan - drug therapy | Erythroid Cells - drug effects | Cell Differentiation - drug effects | Autophagy-Related Protein 5 - metabolism | Erythroid Cells - pathology | Anemia, Diamond-Blackfan - pathology | Quinazolines - pharmacology | Induced Pluripotent Stem Cells - metabolism
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8. Full Text Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry
by Fagioli, Franca and Quarello, Paola and Zecca, Marco and Lanino, Edoardo and Corti, Paola and Favre, Claudio and Ripaldi, Mimmo and Ramenghi, Ugo and Locatelli, Franco and Prete, Arcangelo
British Journal of Haematology, ISSN 0007-1048, 06/2014, Volume 165, Issue 5, pp. 673 - 681
Summary Allogeneic haematopoietic stem cell transplantation (HSCT) is the only curative option for patients with Diamond Blackfan anaemia (DBA). We report the... 
BMT | iron overload | neoplasm | congenital red cell aplasia | Diamond‐Blackfan anaemia | Diamond-Blackfan anaemia | Iron overload | Neoplasm | Congenital red cell aplasia | BONE-MARROW-TRANSPLANTATION | CONSENSUS CONFERENCE | UNRELATED DONORS | SINGLE-CENTER | CHILDREN | ENGRAFTMENT | THALASSEMIA | PATIENT | UMBILICAL-CORD BLOOD | HEMATOLOGY | APLASTIC-ANEMIA | Graft vs Host Disease - epidemiology | Age Factors | Follow-Up Studies | Humans | Risk Factors | Child, Preschool | Graft Survival | Infant | Male | Anemia, Diamond-Blackfan - mortality | Hematopoietic Stem Cell Transplantation - mortality | Cause of Death | Adolescent | Hematopoietic Stem Cell Transplantation - adverse effects | Survival Analysis | Anemia, Diamond-Blackfan - therapy | Female | Italy - epidemiology | Registries | Hematopoietic Stem Cell Transplantation - methods | Child | Graft vs Host Disease - etiology | Pediatrics | Transplantation | Mortality | Hematopoietic stem cells | Stem cells
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9. Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis
by Lipton, Jeffrey M and Ellis, Steven R
Hematology/Oncology Clinics of North America, ISSN 0889-8588, 04/2009, Volume 23, Issue 2, pp. 261 - 282
Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder characterized by erythroid failure, congenital anomalies, and a... 
Diamond-Blackfan anemia | Cancer predisposition | Ribosome biogenesis | Inherited bone marrow failure syndrome | Pure red cell aplasia | CONGENITAL HYPOPLASTIC-ANEMIA | CLEFT-PALATE | BONE-MARROW-TRANSPLANTATION | ERYTHROPOIESIS | TREACHER-COLLINS-SYNDROME | P53 FUNCTION | FANCONI-ANEMIA | ONCOLOGY | STEM-CELL TRANSPLANTATION | HEMATOLOGY | SYNDROME TCOF1 GENE | RIBOSOMAL-PROTEIN S19 | Disease Susceptibility | Neoplasms - etiology | Ribosomes - pathology | Erythrocyte Transfusion | Humans | Adrenal Cortex Hormones - therapeutic use | Anemia, Diamond-Blackfan - physiopathology | Anemia, Diamond-Blackfan - diagnosis | Anemia, Diamond-Blackfan - drug therapy | Anemia, Diamond-Blackfan - therapy | Adrenal Cortex Hormones - toxicity | Stem Cell Transplantation - mortality | Stem Cell Transplantation - adverse effects | Index Medicus
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10. Full Text Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia
by Debnath, Shubhranshu and Jaako, Pekka and Siva, Kavitha and Rothe, Michael and Chen, Jun and Dahl, Maria and Gaspar, H. Bobby and Flygare, Johan and Schambach, Axel and Karlsson, Stefan and Division of Molecular Hematology (DMH) and Avdelningen för molekylär hematologi and Lund University and StemTherapy: National Initiative on Stem Cells for Regenerative Therapy and Division of Molecular Medicine and Gene Therapy and Avdelningen för molekylärmedicin och genterapi and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet
Molecular Therapy, ISSN 1525-0016, 08/2017, Volume 25, Issue 8, pp. 1805 - 1814
Diamond-Blackfan anemia is a congenital erythroid hypoplasia and is associated with physical malformations and a predisposition to cancer. Twenty-five percent... 
Diamond-Blackfan anemia | lentiviral vectors | gene therapy | MEDICINE, RESEARCH & EXPERIMENTAL | RETROVIRAL VECTORS | TRANSPLANTATION | CLONAL SELECTION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | IMPROVES | GENE-TRANSFER | ERYTHROID DEVELOPMENT | GATA1 MUTATIONS | EXPRESSION | RIBOSOMAL-PROTEIN S19 | REGISTRY | Genetic Therapy | RNA, Small Interfering - genetics | Cell Proliferation | Humans | Cell Differentiation - genetics | RNA Interference | Bone Marrow - metabolism | Bone Marrow Transplantation | Anemia, Diamond-Blackfan - therapy | Lentivirus - genetics | Transgenes | Gene Order | Disease Models, Animal | Promoter Regions, Genetic | Gene Expression | Transduction, Genetic | Bone Marrow Cells - cytology | Ribosomal Proteins - genetics | Hematopoiesis - genetics | Virus Integration | Anemia, Diamond-Blackfan - diagnosis | Genetic Vectors - genetics | Phenotype | Animals | Anemia, Diamond-Blackfan - genetics | Graft Survival - genetics | Bone Marrow - pathology | Mice | Bone Marrow Cells - metabolism |