Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

[1]  Alfredo Brusco,et al.  Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations , 2010, Haematologica.

[2]  Shuo Lin,et al.  Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. , 2008, Blood.

[3]  Alan H Beggs,et al.  Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. , 2008, American journal of human genetics.

[4]  S. Karlsson,et al.  Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference , 2008, British journal of haematology.

[5]  C Conover Talbot,et al.  Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. , 2008, Blood.

[6]  Christopher Y. Park,et al.  Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects , 2008, Nature Genetics.

[7]  P. Gleizes,et al.  Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. , 2008, Human molecular genetics.

[8]  S. Karlsson,et al.  Ribosomal Protein S19 Deficiency Leads to Reduced Proliferation and Increased Apoptosis but Does Not Affect Terminal Erythroid Differentiation in a Cell Line Model of Diamond‐Blackfan Anemia , 2008, Stem cells.

[9]  Jiri Petrak,et al.  Ribosomal protein S17 gene (RPS17) is mutated in Diamond‐Blackfan anemia , 2007, Human mutation.

[10]  J. Ladenson,et al.  Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. , 2007, Blood cells, molecules & diseases.

[11]  S. Karlsson,et al.  Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. , 2007, Blood.

[12]  Jacqueline Noaillac-Depeyre,et al.  Impaired ribosome biogenesis in Diamond-Blackfan anemia. , 2007, Blood.

[13]  A. Beggs,et al.  Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. , 2006, American journal of human genetics.

[14]  J. Lipton,et al.  Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: An update from the Diamond Blackfan Anemia Registry , 2006, Pediatric blood & cancer.

[15]  S. Bertolone,et al.  Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis* , 2005, Journal of Biological Chemistry.

[16]  W. Wiktor-Jedrzejczak,et al.  RNA and protein evidence for haplo‐insufficiency in Diamond–Blackfan anaemia patients with RPS19 mutations , 2004, British journal of haematology.

[17]  S. Ball,et al.  Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity , 2004, British journal of haematology.

[18]  C. Dufour,et al.  Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. , 2004, Haematologica.

[19]  A. Vlachos,et al.  The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. , 2001, Journal of pediatric hematology/oncology.

[20]  I. Dianzani,et al.  Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. , 1999, Blood.

[21]  T. Leblanc,et al.  Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients , 1999, Pediatric Research.

[22]  Peter Gustavsson,et al.  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia , 1999, Nature Genetics.

[23]  B. Alter.  Bone marrow failure syndromes. , 1991, Clinics in laboratory medicine.

[24]  C. McGuckin,et al.  Diamond‐Blackfan anaemia in the U.K.: analysis of 80 cases from a 20‐year birth cohort , 1996, British journal of haematology.

[25]  E. Guinan,et al.  Diamond-Blackfan anemia. Natural history and sequelae of treatment. , 1996, Medicine.

[26]  J. Lipton,et al.  Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. , 1994, Blood.

[27]  B. Glader,et al.  Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond‐Blackfan anaemia and other haematologic diseases , 1988, British journal of haematology.

[28]  F. Oski,et al.  Hematology of Infancy and Childhood , 1974 .