Pages that link to "Q73131926"
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The following pages link to Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologi (Q73131926):
Displaying 50 items.
- Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology (Q24294692) (← links)
- Impaired ribosome biogenesis in Diamond-Blackfan anemia (Q24307762) (← links)
- RPS19 mutations in patients with Diamond-Blackfan anemia (Q24321535) (← links)
- Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia (Q24321881) (← links)
- Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia (Q24337910) (← links)
- Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia (Q24642192) (← links)
- Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients (Q24643416) (← links)
- Progress towards mechanism-based treatment for Diamond-Blackfan anemia (Q26823710) (← links)
- Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia (Q28308133) (← links)
- Development of cellular models for ribosomal protein S19 (RPS19)-deficient diamond-blackfan anemia using inducible expression of siRNA against RPS19. (Q31154073) (← links)
- Inherited bone marrow failure syndromes in adolescents and young adults (Q33415672) (← links)
- Genetic predisposition syndromes: when should they be considered in the work-up of MDS? (Q33420216) (← links)
- Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations (Q33632209) (← links)
- Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia (Q33645930) (← links)
- Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita (Q33695744) (← links)
- Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis (Q33916840) (← links)
- Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. (Q33917209) (← links)
- Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia (Q34032196) (← links)
- A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia (Q34282262) (← links)
- Diamond Blackfan anemia treatment: past, present, and future (Q34778028) (← links)
- RPS19 and TYMS SNPs and Prevalent High Risk Human Papilloma Virus Infection in Nigerian Women (Q34796264) (← links)
- Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. (Q34807611) (← links)
- Clinical utility gene card for: Diamond Blackfan anemia (Q34874024) (← links)
- VarRanker: rapid prioritization of sequence variations associated with human disease (Q35051590) (← links)
- Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease (Q35689426) (← links)
- PPAR-α and glucocorticoid receptor synergize to promote erythroid progenitor self-renewal (Q35837738) (← links)
- Establishing Rps6 hemizygous mice as a model for studying how ribosomal protein haploinsufficiency impairs erythropoiesis (Q35869411) (← links)
- Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation (Q35889282) (← links)
- Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. (Q35909685) (← links)
- Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia (Q36016299) (← links)
- Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia (Q36025647) (← links)
- Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea. (Q36074032) (← links)
- Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro. (Q36121754) (← links)
- Osteosarcoma associated with diamond-blackfan anaemia: a case of a child receiving growth hormone therapy (Q36674413) (← links)
- Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). (Q36791004) (← links)
- Diamond blackfan anemia: a tertiary care center experience (Q36934205) (← links)
- Diamond-Blackfan anemia, ribosome and erythropoiesis (Q36975422) (← links)
- Diamond Blackfan anemia: a disorder of red blood cell development (Q37087644) (← links)
- Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference (Q37125399) (← links)
- Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. (Q37186060) (← links)
- Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia (Q37679433) (← links)
- Molecular pathogenesis in Diamond–Blackfan anemia (Q37794869) (← links)
- Current insights into inherited bone marrow failure syndromes (Q38248285) (← links)
- Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study (Q39666212) (← links)
- Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia (Q40231073) (← links)
- Pathogenesis of the erythroid failure in Diamond Blackfan anaemia (Q40436169) (← links)
- Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia (Q40595829) (← links)
- Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia (Q41983912) (← links)
- Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia (Q42188868) (← links)
- Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia (Q42361987) (← links)