Associated Papers
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.
Quarello P et al.
American Journal of Hematology, 2026
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.
Spedicati B et al.
Genes, 2025
Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia.
Voit RA et al.
Cell Stem Cell, 2025
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
Gianferante DM et al.
Ejhaem, 2024
Animal models of Diamond-Blackfan anemia: updates and challenges.
Liu YL et al.
Haematologica, 2023
Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19.
Cole S et al.
Frontiers in Genetics, 2022
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia.
An K et al.
Frontiers in Genetics, 2021
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Aspesi A et al.
Human Mutation, 2018
Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.
van Dooijeweert B et al.
European Journal of Haematology, 2018
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.
Ichimura T et al.
International Journal of Hematology, 2017
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors.
Doulatov S et al.
Science Translational Medicine, 2017
Altered translation of GATA1 in Diamond-Blackfan anemia.
Ludwig LS et al.
Nature Medicine, 2014
Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.
Crétien A et al.
American Journal of Hematology, 2010
Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family.
Danilova N et al.
Blood, 2008
Role of p53 family in birth defects: lessons from zebrafish.
Danilova N et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2008
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
Angelini M et al.
Human Molecular Genetics, 2007
Impaired ribosome biogenesis in Diamond-Blackfan anemia.
Choesmel V et al.
Blood, 2007
Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.
Gregory LA et al.
Nucleic Acids Research, 2007
Translational efficiency in patients with Diamond-Blackfan anemia.
Cmejlova J et al.
Haematologica, 2006
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
Gazda HT et al.
British Journal of Haematology, 2004
Identification by site-directed mutagenesis of amino acid residues in ribosomal protein L2 that are essential for binding to 23S ribosomal RNA.
Harada N et al.
Biochimica Et Biophysica Acta, 1998