Disease: Anemia- Hypoplastic- Congenital
- <em>De novo</em> intronic <em>GATA1</em> mutation leads to diamond-blackfan anemia like disease
- A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature
- A naturally occurring canine model of syndromic congenital microphthalmia
- A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country
- A systematic approach identifies p53-DREAM pathway target genes associated with blood or brain abnormalities
- A systematic approach identifies p53-DREAM target genes associated with blood or brain abnormalities
- Agranulocytosis in patients with Diamond-Blackfan anaemia (DBA) treated with deferiprone for post-transfusion iron overload: A retrospective study of the French DBA cohort
- An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity
- Animal models of Diamond-Blackfan anemia: updates and challenges
- Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A
- Biallelic variation in the choline and ethanolamine transporter <em>FLVCR1</em> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
- Bone marrow failure and TP53 activating mutations
- Case Report: Novel Biallelic Variants in <em>DNAJC21</em> Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis
- Challenges in the management of pregnancy complicated by maternal Diamond Blackfan Anaemia: A case report
- Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
- Congenital pure red cell anemia and idiopathic very early onset of severe colitis cured by allogeneic hematopoetic stem cell transplantation
- Correction: Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia
- Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)
- Cytosolic Ribosomal Protein Haploinsufficiency affects Mitochondrial Morphology and Respiration
- De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
- Decoding the pathogenesis of Diamond-Blackfan anemia using single-cell RNA-seq
- Dedicated chaperones coordinate co-translational regulation of ribosomal protein production with ribosome assembly to preserve proteostasis
- Defects in Bone and Bone Marrow in Inherited Anemias: the Chicken or the Egg
- Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation
- Diagnosing Transient Erythroblastopenia of Childhood: A Review for Pediatricians
- Diamond Blackfan Anemia
- Diamond Blackfan Anemia
- Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1
- Diamond-Blackfan anaemia with iron overload: A serious issue
- Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease
- 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?
- Differential diagnosis of inherited bone marrow failure syndromes in erythrocyte disorders
- 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
- Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond-Blackfan anemia
- Endocrine disorders in patients with transfusion-dependent hereditary anemias
- Engineered human Diamond-Blackfan anemia disease model confirms therapeutic effects of clinically applicable lentiviral vector at single-cell resolution
- Establishment and characterization of CSCRi006-A: an induced pluripotent stem cell line generated from a patient with Diamond-Blackfan Anemia (DBA) carrying ribosomal protein S19 (RPS19) mutation
- Establishment of a Diamond-Blackfan anemia like model in zebrafish
- Et barn med langvarig anemi
- Etiologies and Outcomes of Normocytic Anemia in Children
- Fanconi Anemia: A Rare Genetic Disorder
- GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
- Gata1s mutant mice display persistent defects in the erythroid lineage
- Genetics and genomics of bone marrow failure syndrome
- Haploinsufficiency of the essential gene <em>Rps12</em> causes defects in erythropoiesis and hematopoietic stem cell maintenance
- Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science
- Human parvovirus B19 infection in a pregnant patient resulting in severe hydrops, foetal death and persistent infection
- Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations
- Inherited bone marrow failure in the pediatric patient
- Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist
- Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico
- Late-onset familial Diamond-Blackfan anemia with neutropenia caused by RPL35A variant
- Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress
- Molecular etiology of defective nuclear and mitochondrial ribosome biogenesis: Clinical phenotypes and therapy
- Monolobated megakaryocytes in Diamond-Blackfan anemia with RPL5 mutation at disease presentation mimicking myelodysplastic syndrome
- Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia
- Nephrolithiasis in two patients on iron chelation therapy: A case report
- Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene
- Normal Erythroid Precursors in Diamond-Blackfan Anemia: A Rare Case Highlighting Challenges That Remain
- Novel ribosomal protein L26 variant and modeling in a patient with Diamond-Blackfan anemia: Case report
- Ovarian tissue cryopreservation in the pediatric with rare diseases- experience from China's first and the largest ovarian tissue cryobank
- p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes
- Perinatal-lethal nonimmune fetal hydrops attributed to <em>MECOM</em>-associated bone marrow failure
- Perspectives of current understanding and therapeutics of Diamond-Blackan anemia
- Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia
- Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?
- Prenatal Diagnosis of Fetal Heart Failure
- Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity
- 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
- Pure Red Cell Aplasia
- Pure Red Cell Aplasia
- Pure Red Cell Aplasia Encountered in a Tertiary Care Hematology Laboratory: A Series of Nine Distinctive Cases
- Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes
- Reducing the aneuploid cell burden - cell competition and the ribosome connection
- Refractory Pure Red Blood Cell Aplasia Secondary to Major ABO-Incompatible Allogeneic Stem Cell Transplantation Successfully Treated With Daratumumab
- Ribosomal protein L5 facilitates rDNA-bundled condensate and nucleolar assembly
- Ribosomal protein mutations and cell competition: autonomous and nonautonomous effects on a stress response
- SATB1 Chromatin Loops Regulate Megakaryocyte/Erythroid Progenitor Expansion by Facilitating HSP70 and GATA1 Induction
- Severe erythroid hypoplasia and erythroblast vacuolization in a male with Brown-Vialetto-Van Laere syndrome 2 misdiagnosed as Diamond Blackfan anemia
- Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia
- Studies of a mosaic patient with DBA and chimeric mice reveal erythroid cell-extrinsic contributions to erythropoiesis
- Targeting of Calbindin 1 rescues erythropoiesis in a human model of Diamond Blackfan anemia
- The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review
- The metabolic basis of inherited neutropenias
- The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis
- The Ribosomal Protein L5 Functions During <em>Xenopus</em> Anterior Development Through Apoptotic Pathways
- The transcriptomic landscape of normal and ineffective erythropoiesis at single-cell resolution
- Transient erythroblastopenia due to a GATA1 variant in an infant female
- Transplantation using targeted busulfan for Diamond-Blackfan anemia
- Turning up the HEAT(R3) in Diamond-Blackfan anemia
- Understanding complex disease-related mechanisms: Rational therapies for Diamond-Blackfan anaemia
- 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
- Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in <em>RPS19</em>
- Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19
- ZAKα/P38 kinase signaling pathway regulates hematopoiesis by activating the NLRP1 inflammasome