• A child with persistent anaemia
• 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 Fanca knockout mouse model reveals novel Fancd2 function
• A naturally occurring canine model of syndromic congenital microphthalmia
• A Nutrigenomic View on the Premature-Aging Disease Fanconi Anemia
• 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
• A Well-Curated Cost-Effective Next-Generation Sequencing Panel Identifies a Diverse Landscape of Pathogenic and Novel Germline Variants in a Bone Marrow Failure Cohort in a Resource-Constraint Setting
• Activation of Nemo-like Kinase in Diamond Blackfan Anemia suppresses early erythropoiesis by preventing mitochondrial biogenesis
• ALDH2 mutations and defense against genotoxic aldehydes in cancer and inherited bone marrow failure syndromes
• Aplastic anemia
• 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
• Clinical utility of relative telomere length analysis in pediatric bone marrow failure
• 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
• Cytogenetic findings in Polish patients with suspected Fanconi 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 Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia
• Defects in Bone and Bone Marrow in Inherited Anemias: the Chicken or the Egg
• Diagnosing Fanconi Anemia: A Rare Case Report From Rural India
• Diagnosing Transient Erythroblastopenia of Childhood: A Review for Pediatricians
• Diagnosis status and genetic characteristics analysis of Fanconi anemia in China
• Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
• Diamond Blackfan Anemia
• 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?
• Disruption of mitochondrial energy metabolism is a putative pathogenesis of Diamond-Blackfan anemia
• Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel <em>SAMD9L</em> variant
• Endometriosis in a 22-Year-Old with Premature Ovarian Insufficiency Secondary to Pre-Pubertal Bone Marrow Transplant: a Case Report
• 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
• Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes
• FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia
• Fanconi Anemia
• Fanconi Anemia: A Rare Genetic Disorder
• Generation of iPSC lines and isogenic gene-corrected lines from two individuals with RPS19-mutated Diamond-Blackfan anemia syndrome
• Haploinsufficiency of the essential gene <em>Rps12</em> causes defects in erythropoiesis and hematopoietic stem cell maintenance
• Harnessing Single-Cell Technologies in the Search for New Therapies for Diamond-Blackfan Anemia
• Harnessing Single-Cell Technologies in the Search for New Therapies for Diamond-Blackfan Anemia Syndrome
• Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science
• Human leucocyte antigen-matched related haematopoietic stem cell transplantation using low-dose cyclophosphamide, fludarabine and thymoglobulin in children with severe aplastic anaemia
• Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations
• Idiopathic pulmonary hemosiderosis associated with Kabuki syndrome
• Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
• 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
• Integrated proteogenomic analysis for inherited bone marrow failure syndrome
• Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia
• Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia
• Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants?
• Monolobated megakaryocytes in Diamond-Blackfan anemia with RPL5 mutation at disease presentation mimicking myelodysplastic syndrome
• 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
• Optimizing diagnostic methods and stem cell transplantation outcomes in pediatric bone marrow failure: a 50-year single center experience
• Ovarian tissue cryopreservation in the pediatric with rare diseases- experience from China's first and the largest ovarian tissue cryobank
• Overexpression of human SAMD9 inhibits protein translation and alters MYC signaling resulting in cell cycle arrest
• 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?
• 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
• Probable digenic inheritance of Diamond-Blackfan anemia
• Pure Red Cell Aplasia
• Pure Red Cell Aplasia Encountered in a Tertiary Care Hematology Laboratory: A Series of Nine Distinctive Cases
• Reduced toxicity conditioning for hematopoietic stem cell transplantation in children with Diamond-Blackfan anemia
• Refractory Pure Red Blood Cell Aplasia Secondary to Major ABO-Incompatible Allogeneic Stem Cell Transplantation Successfully Treated With Daratumumab
• Ribosomal protein mutations and cell competition: autonomous and nonautonomous effects on a stress response
• RUNX1 mutations mitigate quiescence to promote transformation of hematopoietic progenitors in Fanconi anemia
• Severe erythroid hypoplasia and erythroblast vacuolization in a male with Brown-Vialetto-Van Laere syndrome 2 misdiagnosed as Diamond Blackfan anemia
• Targeting of Calbindin 1 rescues erythropoiesis in a human model of Diamond Blackfan anemia
• TERC haploid cell reprogramming: a novel therapeutic strategy for aplastic anemia
• The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review
• The FANCI/FANCD2 complex links DNA damage response to R-loop regulation through SRSF1-mediated mRNA export
• The metabolic basis of inherited neutropenias
• The methylome of buccal epithelial cells is influenced by age, sex, and physiological properties
• The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis
• The Paradox of Ribosomal Insufficiency Coupled with Increased Cancer: Shifting the Perspective from the Cancer Cell to the Microenvironment
• The Reconstitution of T-cells after Allogeneic Hematopoietic Stem Cell Transplant in a Pediatric Patient with Congenital Amegakaryocytic Thrombocytopenia (CAMT)
• The state of the art in the treatment of severe aplastic anemia: immunotherapy and hematopoietic cell transplantation in children and adults
• The transcriptomic landscape of normal and ineffective erythropoiesis at single-cell resolution
• Towards a Cure for Diamond-Blackfan Anemia: Views on Gene Therapy
• Transient erythroblastopenia due to a GATA1 variant in an infant female
• Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag
• Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel
• Understanding complex disease-related mechanisms: Rational therapies for Diamond-Blackfan anaemia
• Univariate and multivariate genome-wide association studies for hematological traits in Murciano-Granadina goats
• Update on the Use of Thrombopoietin-Receptor Agonists in Pediatrics
• When to consider inherited marrow failure syndromes in adults
• ZAKα/P38 kinase signaling pathway regulates hematopoiesis by activating the NLRP1 inflammasome