Published in Eur J Haematol on November 05, 2008
Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies. Clin Mol Allergy (2011) 0.81
Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies. Clin Vaccine Immunol (2016) 0.75
Application of Flow Cytometry in the Evaluation of Primary Immunodeficiencies. Indian J Pediatr (2016) 0.75
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
International consensus guidelines for management of intraductal papillary mucinous neoplasms and mucinous cystic neoplasms of the pancreas. Pancreatology (2006) 8.83
International consensus guidelines 2012 for the management of IPMN and MCN of the pancreas. Pancreatology (2012) 7.22
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature (2007) 7.07
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
Detection of human bocavirus in Japanese children with lower respiratory tract infections. J Clin Microbiol (2006) 4.04
Atomoxetine increases extracellular levels of norepinephrine and dopamine in prefrontal cortex of rat: a potential mechanism for efficacy in attention deficit/hyperactivity disorder. Neuropsychopharmacology (2002) 3.79
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron (2007) 3.30
Clinical diagnostic criteria of autoimmune pancreatitis: revised proposal. J Gastroenterol (2006) 3.04
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis (2008) 2.52
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A (2013) 2.30
Specific findings of the standard 12-lead ECG in patients with 'Takotsubo' cardiomyopathy: comparison with the findings of acute anterior myocardial infarction. Circ J (2003) 2.25
Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J Exp Med (2009) 2.08
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet (2007) 1.87
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron (2002) 1.76
Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis (2010) 1.70
Successful determination of lower inflection point and maximal compliance in a population of patients with acute respiratory distress syndrome. Crit Care Med (2002) 1.60
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
Nuclear factor-kappaB contributes to hedgehog signaling pathway activation through sonic hedgehog induction in pancreatic cancer. Cancer Res (2006) 1.52
Clinical utility of single-beat E/e' obtained by simultaneous recording of flow and tissue Doppler velocities in atrial fibrillation with preserved systolic function. JACC Cardiovasc Imaging (2009) 1.50
Optimization of WAVE2 complex-induced actin polymerization by membrane-bound IRSp53, PIP(3), and Rac. J Cell Biol (2006) 1.50
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med (2011) 1.47
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood (2004) 1.46
The effect of a novel, small non-peptidyl molecule butyzamide on human thrombopoietin receptor and megakaryopoiesis. Haematologica (2008) 1.46
Seroepidemiology of human bocavirus in Hokkaido prefecture, Japan. J Clin Microbiol (2007) 1.45
Duodenum is important for the sphincter of Oddi motor response to cholecystokinin octapeptide in conscious dogs. J Gastroenterol (2005) 1.45
Effects of docosahexaenoic Acid on the endothelial function in patients with coronary artery disease. J Atheroscler Thromb (2014) 1.45
Blockade of constitutively activated Janus kinase/signal transducer and activator of transcription-3 pathway inhibits growth of human pancreatic cancer. Cancer Lett (2003) 1.42
Plasma microRNA-100 is associated with coronary plaque vulnerability. Circ J (2014) 1.39
Impact of Indoxyl Sulfate, a Uremic Toxin, on Non-Culprit Coronary Plaque Composition Assessed on Integrated Backscatter Intravascular Ultrasound. Circ J (2015) 1.39
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet (2004) 1.39
Cardiac rehabilitation reduces serum levels of oxidized low-density lipoprotein. Circ J (2014) 1.39
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins. Hum Mol Genet (2006) 1.38
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
Circadian clock proteins LHY and CCA1 regulate SVP protein accumulation to control flowering in Arabidopsis. Plant Cell (2008) 1.35
Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A (2007) 1.35
The role of S100A6 in pancreatic cancer development and its clinical implication as a diagnostic marker and therapeutic target. Clin Cancer Res (2005) 1.33
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med (2012) 1.33
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet (2005) 1.32
Fragile X-related proteins regulate mammalian circadian behavioral rhythms. Am J Hum Genet (2008) 1.32
A prospective pancreatographic study of the prevalence of pancreatic carcinoma in patients with diabetes mellitus. Cancer (2002) 1.27
Pharmacologic characterization of the cloned human trace amine-associated receptor1 (TAAR1) and evidence for species differences with the rat TAAR1. J Pharmacol Exp Ther (2006) 1.26
Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res (2002) 1.26
Advances in polyamine research in 2007. J Plant Res (2007) 1.25
Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models. J Neurophysiol (2009) 1.24
Recombinant human soluble thrombomodulin decreases the plasma high-mobility group box-1 protein levels, whereas improving the acute liver injury and survival rates in experimental endotoxemia. Crit Care Med (2009) 1.23
Bmal1 and β-cell clock are required for adaptation to circadian disruption, and their loss of function leads to oxidative stress-induced β-cell failure in mice. Mol Cell Biol (2013) 1.22
Lnk regulates integrin alphaIIbbeta3 outside-in signaling in mouse platelets, leading to stabilization of thrombus development in vivo. J Clin Invest (2009) 1.22
Solid pancreatic hamartoma. Pathol Int (2007) 1.22
Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene. Behav Neurosci (2008) 1.21
Twist, a novel oncogene, is upregulated in pancreatic cancer: clinical implication of Twist expression in pancreatic juice. Int J Cancer (2007) 1.19
Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet (2005) 1.19
Index-beat assessment of left ventricular systolic and diastolic function during atrial fibrillation using myocardial strain and strain rate. J Am Soc Echocardiogr (2012) 1.18
Atomic-scale identification of individual lanthanide dopants in optical glass fiber. ACS Nano (2013) 1.18
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol (2012) 1.17
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Phase I clinical study of anti-apoptosis protein, survivin-derived peptide vaccine therapy for patients with advanced or recurrent colorectal cancer. J Transl Med (2004) 1.17
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr (2009) 1.15
Suppression of VEGFR-3 signaling inhibits lymph node metastasis in gastric cancer. Cancer Sci (2004) 1.13
Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol (2011) 1.13
Clinical aspects of intraductal papillary mucinous neoplasm of the pancreas. J Gastroenterol (2005) 1.13
Expansion of functional human mucosal-associated invariant T cells via reprogramming to pluripotency and redifferentiation. Cell Stem Cell (2013) 1.11
Completion radical surgery after cholecystectomy for accidentally undiagnosed gallbladder carcinoma. World J Surg (2003) 1.11
A potent immunogenic general cancer vaccine that targets survivin, an inhibitor of apoptosis proteins. Clin Cancer Res (2005) 1.10
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis (2011) 1.09
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Secondary extramedullary plasmacytoma involving the pancreas. J Hepatobiliary Pancreat Surg (2002) 1.08
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest (2003) 1.08
Agreement between Occupational Therapy Practice Framework classifications and occupational therapists' classifications. Am J Occup Ther (2007) 1.07
Functional phenotype of phosphoinositide 3-kinase p85alpha-null platelets characterized by an impaired response to GP VI stimulation. Blood (2003) 1.07
Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells. J Exp Med (2011) 1.06
Bone morphogenetic protein-2 down-regulates miR-206 expression by blocking its maturation process. Biochem Biophys Res Commun (2009) 1.06
Expression of receptor activator of NF-kappa B ligand and osteoprotegerin in culture of human periodontal ligament cells. J Periodontal Res (2002) 1.06
R-fluoxetine increases extracellular DA, NE, as well as 5-HT in rat prefrontal cortex and hypothalamus: an in vivo microdialysis and receptor binding study. Neuropsychopharmacology (2002) 1.05
Induction of NKG2D ligands on human dendritic cells by TLR ligand stimulation and RNA virus infection. Int Immunol (2007) 1.05
DOCK2 associates with CrkL and regulates Rac1 in human leukemia cell lines. Blood (2002) 1.04
A functional role of Stat3 in in vivo megakaryopoiesis. Blood (2002) 1.04
Cloning and functional characterization of a novel up-regulator, cartregulin, of carnitine transporter, OCTN2. Arch Biochem Biophys (2006) 1.03
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. Hum Mol Genet (2013) 1.03
Quantitative assessment of telomerase activity and human telomerase reverse transcriptase messenger RNA levels in pancreatic juice samples for the diagnosis of pancreatic cancer. Clin Cancer Res (2005) 1.03
Autoimmune pancreatitis starting as a localized form. J Gastroenterol (2002) 1.03
Evaluating the quality of reporting occupational therapy randomized controlled trials by expanding the CONSORT criteria. Am J Occup Ther (2006) 1.03
Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci (2002) 1.02
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. Am J Med Genet A (2007) 1.02
Discovery of tofogliflozin, a novel C-arylglucoside with an O-spiroketal ring system, as a highly selective sodium glucose cotransporter 2 (SGLT2) inhibitor for the treatment of type 2 diabetes. J Med Chem (2012) 1.01
Desmoplakin and talin2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle. Circ Res (2011) 1.00
Phase II study of S-1, docetaxel and cisplatin combination chemotherapy in patients with unresectable metastatic gastric cancer. Cancer Chemother Pharmacol (2009) 1.00
TRIM32 promotes neural differentiation through retinoic acid receptor-mediated transcription. J Cell Sci (2011) 1.00