Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis
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Title
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HEMATOLOGY
Volume 89, Issue 10, Pages 985-991
Publisher
Wiley
Online
2014-07-16
DOI
10.1002/ajh.23807
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Note: Only part of the references are listed.- 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 GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype
- (2014) Sara Parrella et al. PEDIATRIC BLOOD & CANCER
- Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013
- (2013) Adrianna Vlachos et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia
- (2013) Michael Landowski et al. HUMAN GENETICS
- 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
- Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia
- (2013) A. Bolze et al. SCIENCE
- 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
- Proofreading of pre-40S ribosome maturation by a translation initiation factor and 60S subunits
- (2012) Simon Lebaron et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Ribosomal protein gene deletions in Diamond-Blackfan anemia
- (2011) J. E. Farrar et al. BLOOD
- Ribosome-Mediated Specificity in Hox mRNA Translation and Vertebrate Tissue Patterning
- (2011) Nadya Kondrashov et al. CELL
- Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome
- (2011) A. J. Finch et al. GENES & DEVELOPMENT
- Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
- (2010) Leana Doherty et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Advances in the 5q- syndrome
- (2010) J. Boultwood et al. BLOOD
- Do ribosomopathies explain some cases of common variable immunodeficiency?
- (2010) S. Khan et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- The ribosomal basis of diamond-blackfan anemia: mutation and database update
- (2010) Ilenia Boria et al. HUMAN MUTATION
- Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis
- (2009) Jeffrey M. Lipton et al. HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
- 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
- A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia
- (2008) Ilenia Boria et al. HUMAN MUTATION
- Identification of RPS14 as a 5q- syndrome gene by RNA interference screen
- (2008) Benjamin L. Ebert et al. NATURE
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