Associated Papers
Hereditary Anemias as a Monogenic Etiology for Nonimmune Hydrops Fetalis.
Makhamreh MM et al.
Clinical Therapeutics, 2026
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
Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes.
Pereboom TC et al.
Experimental Hematology, 2014
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I et al.
Human Mutation, 2010
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P et al.
Haematologica, 2010
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda HT et al.
American Journal of Human Genetics, 2008
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