Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia

Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

(2014) Jason E. Farrar et al.   AMERICAN JOURNAL OF HEMATOLOGY

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genesTSR2andRPS28

(2014) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

(2014) L. Mirabello et al.   BLOOD

Loss of function mutations inRPL27andRPS27identified by whole-exome sequencing in Diamond-Blackfan anaemia

(2014) RuNan Wang et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2014) Sara Parrella et al.   PEDIATRIC BLOOD & CANCER

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

(2013) Michael Landowski et al.   HUMAN GENETICS

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

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

(2010) Ilenia Boria et al.   HUMAN MUTATION

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

(2009) P. Quarello et al.   HAEMATOLOGICA

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

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

The role of human ribosomal proteins in the maturation of rRNA and ribosome production

(2008) S. Robledo et al.   RNA