Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome

(2013) A. Vlachos et al.   BLOOD

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia

(2013) Michael Landowski et al.   HUMAN GENETICS

Frameshift mutation in p53 regulatorRPL26is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

(2012) Hanna T. Gazda et al.   HUMAN MUTATION

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

(2012) Vijay G. Sankaran et al.   JOURNAL OF CLINICAL INVESTIGATION

Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia

(2010) R. Kanezaki et al.   BLOOD

The ribosomal basis of diamond-blackfan anemia: mutation and database update

(2010) Ilenia Boria et al.   HUMAN MUTATION

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

(2008) Adrianna Vlachos et al.   BRITISH JOURNAL OF HAEMATOLOGY

Human phenotypes associated with GATA-1 mutations

(2008) Wendy A. Ciovacco et al.   GENE

RPS19 mutations in patients with Diamond-Blackfan anemia

(2008) Maria Francesca Campagnoli et al.   HUMAN MUTATION