• A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2
• A naturally occurring canine model of syndromic congenital microphthalmia
• A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity
• A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: <em>RASA3</em>
• A Phenotypic Screening Assay Identifies Modulators of Diamond Blackfan Anemia
• A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country
• Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders
• Allogeneic Hematopoietic Stem Cell Transplant Offer Good Outcomes in Pediatric Aplastic Anemia: Experience From Developing World
• Assessment of liver and cardiac iron overload using MRI in patients with chronic anemias in Latin American countries: results from ASIMILA study
• Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia
• Bochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation: A case report
• Bone mineral density in patients with inherited bone marrow failure syndromes
• Case Report: Novel Biallelic Variants in <em>DNAJC21</em> Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis
• Clinical features and pathogenic gene detection of Diamond-Blackfan anemia
• Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study
• Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
• Congenital Disorders of the Pediatric Thumb
• Correction: Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia
• Craniofacial Characteristics and Orthodontic Treatment of Diamond Blackfan Syndrome: Two Case Reports
• Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International C
• Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions
• De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome
• De Novo Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia
• Deferasirox for managing iron overload in people with thalassaemia
• Deferasirox-associated Fanconi syndrome in adult patients with transfusional iron overload
• Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome
• Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
• Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing
• Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase
• Diamond-Blackfan anemia RPL35A: a case report
• Diamond-Blackfan anemia with very late and fatal onset aplasia in a 55-year-old patient with RPL11 mutation
• Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
• Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes
• Disruption of mitochondrial energy metabolism is a putative pathogenesis of Diamond-Blackfan anemia
• DNA Methyl Transferase 3A (DNMT3A) Mutation Presenting as Isolated Pure Red Cell Aplasia
• Dyserythropoietic anaemia with an intronic <em>GATA1</em> splicing mutation in patients suspected to have Diamond-Blackfan anaemia
• Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond-Blackfan anaemia
• Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems
• Effect of L-Leucine Therapy on Hematopoietic Function in Elderly Myelodysplastic Syndrome Patients
• Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias
• Endocrine disorders in patients with transfusion-dependent hereditary anemias
• Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia
• Exome sequencing identified <em>RPS15A</em> as a novel causative gene for Diamond-Blackfan anemia
• Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
• Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia
• Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype
• GATA factor mutations in hematologic disease
• GATA Transcription Factors: Basic Principles and Related Human Disorders
• GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
• GATA1 insufficiencies in primary myelofibrosis and other hematopoietic disorders: consequences for therapy
• Gene disruption of ribosomal protein L5 (RPL5) decreased the sensitivity of CHO-K1 cells to uncoupler carbonylcyanide-3-chlorophenylhydrazone
• Hypoxia influences polysome distribution of human ribosomal protein S12 and alternative splicing of ribosomal protein mRNAs
• Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia
• Integrated analyses of translatome and proteome identify the rules of translation selectivity in RPS14-deficient cells
• Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder
• Managing the Unusual Causes of Fetal Anemia
• Massive iron overload and acute-on-chronic liver failure in a patient with Diamond-Blackfan anaemia: a case report
• Metformin-induced suppression of Nemo-like kinase improves erythropoiesis in preclinical models of Diamond-Blackfan anemia through induction of miR-26a
• Methylated HNRNPK acts on RPS19 to regulate ALOX15 synthesis in erythropoiesis
• Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress
• Moxibustion with deferasirox results in safe, accelerated, and sustained cardiac iron chelation for a young Diamond Blackfan Anemia patient: An integrative case report
• Nephrolithiasis in two patients on iron chelation therapy: A case report
• Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature
• Nucleolar Organization and Functions in Health and Disease
• Outcome of allogeneic Hematopoietic Stem Cell Transplantation on Diamond-Blackfan anemia using busulfan-based myeloablative regimen
• Outcomes in pediatrics patients diagnosed with bone marrow failure disorders treated in a tertiary care center
• Ovarian tissue cryopreservation in the pediatric with rare diseases- experience from China's first and the largest ovarian tissue cryobank
• Pediatric bone marrow failure: Clinical, hematological and targeted next generation sequencing data
• Perspectives of current understanding and therapeutics of Diamond-Blackan anemia
• Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia
• Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes
• Prevalence and clinical expression of germline predisposition to myeloid neoplasms in adults with marrow hypocellularity
• Prevalence and risk factors of obesity in children with Diamond-Blackfan anemia
• Probable digenic inheritance of Diamond-Blackfan anemia
• Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels
• Recurring mutations in <em>RPL15</em> are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia
• Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia
• Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes
• Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia
• Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia
• Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies
• Ribosomal protein mutations and cell competition: autonomous and nonautonomous effects on a stress response
• Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia
• Short Stature in Patients with Diamond-Blackfan Anemia: A Cross-Sectional Study
• Somatic reversion events point towards <em>RPL4</em> as a novel disease gene in a condition resembling Diamond-Blackfan anemia
• Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia
• Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes
• Stem Cell Transplantation for Diamond-Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT)
• Successful unrelated cord blood transplantation for Diamond-Blackfan anemia
• The active component of ginseng, ginsenoside Rb1, improves erythropoiesis in models of Diamond-Blackfan anemia by targeting Nemo-like kinase
• The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review
• The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70
• The Use of B-Cell Polysome Profiling to Validate Novel RPL5 (uL18) and RPL26 (uL24) Variants in Diamond-Blackfan Anemia
• Transcriptome Profiling Identifies Ribosome Biogenesis as a Target of Alcohol Teratogenicity and Vulnerability during Early Embryogenesis
• Transfusion burden in early childhood plays an important role in iron overload in Diamond-Blackfan anaemia
• Transient erythroblastopenia due to a GATA1 variant in an infant female
• Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag
• Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review
• Utility of Whole Exome Sequencing in the Early Diagnosis of Atypical Diamond-Blackfan Anemia
• Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease