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

Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA

(2013) Milena Preti et al.   NUCLEIC ACIDS RESEARCH

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia

(2012) M. Kuramitsu et al.   BLOOD

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

(2012) P. Quarello et al.   HAEMATOLOGICA

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

Ribosomal protein gene deletions in Diamond-Blackfan anemia

(2011) J. E. Farrar et al.   BLOOD

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

(2010) Leana Doherty et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits

(2010) Marie-Françoise O’Donohue et al.   JOURNAL OF CELL BIOLOGY

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

(2008) Hanna T. Gazda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

(2008) J. E. Farrar et al.   BLOOD

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

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

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder

(2008) V. Choesmel et al.   HUMAN MOLECULAR GENETICS