Associated Papers
Diagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature.
Versino F et al.
Orphanet Journal of Rare Diseases, 2024
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
Gianferante DM et al.
Ejhaem, 2024
39691264 (PubMed )
Supplement: JHA2-5-1117-s001.pdf
Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
Li J et al.
International Journal of Laboratory Hematology, 2023
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
29766597 (PubMed )
Supplement: HUMU-39-1102-s001.pdf
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS et al.
Pediatric Blood & Cancer, 2015
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.
Delaporta P et al.
Pediatric Blood & Cancer, 2014
Altered translation of GATA1 in Diamond-Blackfan anemia.
Ludwig LS et al.
Nature Medicine, 2014
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.
Chae H et al.
Experimental & Molecular Medicine, 2014
Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea.
Kim SK et al.
The Korean Journal of Hematology, 2012
[Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients].
Chae H et al.
The Korean Journal of Laboratory Medicine, 2010
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
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