Published in Eur J Haematol on July 01, 2010
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Regulated expression of nuclear receptor RORγt confers distinct functional fates to NK cell receptor-expressing RORγt(+) innate lymphocytes. Immunity (2010) 3.59
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Erythrocyte Glut1 triggers dehydroascorbic acid uptake in mammals unable to synthesize vitamin C. Cell (2008) 2.84
Increase of oxygen consumption during a progressive decrease of ventilatory support is lower in patients failing the trial in comparison with those who succeed. Anesthesiology (2010) 2.78
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The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. Blood (2007) 2.16
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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet (2009) 2.12
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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet (2011) 1.84
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The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps. DNA Repair (Amst) (2005) 1.81
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Sequestration of extracellular hemoglobin within a haptoglobin complex decreases its hypertensive and oxidative effects in dogs and guinea pigs. J Clin Invest (2009) 1.77
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MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. PLoS One (2009) 1.73
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Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity. J Biol Chem (2007) 1.65
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol (2005) 1.63
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Am J Hum Genet (2011) 1.63
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Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. Nat Commun (2013) 1.60
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Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci. PLoS Genet (2011) 1.57
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CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet (2003) 1.54
Functional and biochemical dissection of the structure-specific nuclease ARTEMIS. EMBO J (2004) 1.54
Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosis. Blood (2003) 1.54
A variant of SCID with specific immune responses and predominance of gamma delta T cells. J Clin Invest (2005) 1.54
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat (2009) 1.52
Comparison of a novel lycra endotracheal tube cuff to standard polyvinyl chloride cuff and polyurethane cuff for fluid leak prevention. Respir Care (2011) 1.51
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet (2010) 1.50
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A 72-hour study to test the efficacy and safety of the "Mucus Slurper" in mechanically ventilated sheep. Crit Care Med (2007) 1.44
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Extensive analysis of the cytoplasmic proteome of human erythrocytes using the peptide ligand library technology and advanced mass spectrometry. Mol Cell Proteomics (2008) 1.41
Characteristics and long-term outcome of 15 episodes of systemic lupus erythematosus-associated hemophagocytic syndrome. Medicine (Baltimore) (2006) 1.41
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia. Haematologica (2007) 1.40
Biosimilars and safety issues. Leuk Lymphoma (2009) 1.40
Results of intracoronary stem cell therapy after acute myocardial infarction. Am J Cardiol (2010) 1.40
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evol Biol (2009) 1.40
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin. Medicine (Baltimore) (2014) 1.39
MiR-34a targeting of Notch ligand delta-like 1 impairs CD15+/CD133+ tumor-propagating cells and supports neural differentiation in medulloblastoma. PLoS One (2011) 1.38
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. Clin Immunol (2011) 1.38
Deficiency of innate and acquired immunity caused by an IKBKB mutation. N Engl J Med (2013) 1.37
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet (2011) 1.37
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood (2011) 1.36
ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis. Proc Natl Acad Sci U S A (2011) 1.35
Physical incorporation of a single-stranded oligodeoxynucleotide during targeted repair of a human chromosomal locus. J Gene Med (2006) 1.35
Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. J Biol Chem (2002) 1.34
New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children. Haematologica (2011) 1.34
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet (2008) 1.34
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat (2008) 1.34
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Nat Genet (2005) 1.33
Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics. Haematologica (2011) 1.32
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet (2002) 1.32