Associated Papers
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.
Quarello P et al.
American Journal of Hematology, 2026
41247002 (PubMed )
Supplement: AJH-101-228-s001.docx
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
Three-dimensional genomic mapping of human pancreatic tissue reveals striking multifocality and genetic heterogeneity in precancerous lesions.
Braxton AM et al.
Biorxiv : the Preprint Server for Biology, 2023
36747709 (PubMed )
Supplement: media-5.xlsx › 104
A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.
Yazaki M et al.
Journal of Pediatric Hematology/oncology, 2012
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Pospisilova D et al.
Blood Cells, Molecules & Diseases, 2012
Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.
Cmejla R et al.
Blood Cells, Molecules & Diseases, 2011
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L et al.
American Journal of Human Genetics, 2010
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