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Title
Ribosomal protein gene deletions in Diamond-Blackfan anemia
Authors
Keywords
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Journal
BLOOD
Volume 118, Issue 26, Pages 6943-6951
Publisher
American Society of Hematology
Online
2011-11-02
DOI
10.1182/blood-2011-08-375170
References
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Related references
Note: Only part of the references are listed.- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia
- (2011) Jason E. Farrar et al. SEMINARS IN HEMATOLOGY
- Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
- (2010) Leana Doherty et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Conventional and pretargeted radioimmunotherapy using bismuth-213 to target and treat non-Hodgkin lymphomas expressing CD20: a preclinical model toward optimal consolidation therapy to eradicate minimal residual disease
- (2010) S. I. Park et al. BLOOD
- A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia
- (2010) E. E. Devlin et al. BLOOD
- Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia
- (2010) Y. Konno et al. HAEMATOLOGICA
- Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
- (2010) Laura K. Conlin et al. HUMAN MOLECULAR 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
- Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia
- (2010) M. J. Wat et al. JOURNAL OF MEDICAL GENETICS
- 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
- Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency
- (2008) P. Quarello et al. HAEMATOLOGICA
- A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia
- (2008) Ilenia Boria et al. HUMAN MUTATION
- RPS19 mutations in patients with Diamond-Blackfan anemia
- (2008) Maria Francesca Campagnoli et al. HUMAN MUTATION
- Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects
- (2008) Kelly A McGowan et al. NATURE GENETICS
- The role of human ribosomal proteins in the maturation of rRNA and ribosome production
- (2008) S. Robledo et al. RNA
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