Published in Hum Mutat on March 01, 2008
Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med (2009) 1.40
Ablation of nonmuscle myosin II-B and II-C reveals a role for nonmuscle myosin II in cardiac myocyte karyokinesis. Mol Biol Cell (2010) 1.36
Nonmuscle myosin-2: mix and match. Cell Mol Life Sci (2012) 1.30
Genetics of familial forms of thrombocytopenia. Hum Genet (2012) 1.24
Biophysical properties of normal and diseased renal glomeruli. Am J Physiol Cell Physiol (2010) 1.07
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur J Med Genet (2012) 1.00
Glomerular pathology in autosomal dominant MYH9 spectrum disorders: what are the clues telling us about disease mechanism? Kidney Int (2010) 1.00
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. Mol Genet Genomic Med (2014) 0.98
Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity. Blood (2011) 0.97
MYH-9 Related Platelet Disorders: Strategies for Management and Diagnosis. Transfus Med Hemother (2010) 0.94
Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol (2011) 0.93
The role of vertebrate nonmuscle Myosin II in development and human disease. Bioarchitecture (2014) 0.90
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. PLoS One (2012) 0.87
Thrombocytopenias: a clinical point of view. Blood Transfus (2009) 0.86
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood (2014) 0.84
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet (2015) 0.84
Distinct functional interactions between actin isoforms and nonsarcomeric myosins. PLoS One (2013) 0.83
Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability. PLoS One (2013) 0.82
Life without double-headed non-muscle myosin II motor proteins. Front Chem (2014) 0.78
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly. Yonsei Med J (2012) 0.78
Structural Analysis of the Myo1c and Neph1 Complex Provides Insight into the Intracellular Movement of Neph1. Mol Cell Biol (2016) 0.76
Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients. Acta Otorhinolaryngol Ital (2016) 0.75
Glomerular Filtration Barrier Assembly: An insight. Postdoc J (2013) 0.75
Myosin heavy chain-9-related disorders (MYH9-RD): a case report. Clin Kidney J (2013) 0.75
Epidural anesthesia for labor and delivery in a patient with May-Hegglin anomaly: a case report. Local Reg Anesth (2017) 0.75
Mouse models of diseases of megakaryocyte and platelet homeostasis. Mamm Genome (2011) 0.75
Role of prostacyclin in the cardiovascular response to thromboxane A2. Science (2002) 4.59
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol (2008) 4.41
Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature (2012) 4.13
A randomized trial of hyperimmune globulin to prevent congenital cytomegalovirus. N Engl J Med (2014) 3.92
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol (2011) 3.66
New criteria for response to treatment in immunoglobulin light chain amyloidosis based on free light chain measurement and cardiac biomarkers: impact on survival outcomes. J Clin Oncol (2012) 3.35
Gastrointestinal safety of NO-aspirin (NCX-4016) in healthy human volunteers: a proof of concept endoscopic study. Gastroenterology (2003) 3.21
Interventricular and intraventricular dyssynchrony are common in heart failure patients, regardless of QRS duration. Eur Heart J (2004) 2.87
MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med (2011) 2.65
Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome. Circulation (2004) 2.63
Four-year efficacy of cardiac resynchronization therapy on exercise tolerance and disease progression: the importance of performing atrioventricular junction ablation in patients with atrial fibrillation. J Am Coll Cardiol (2006) 2.56
Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood (2007) 2.53
Increased circulating hematopoietic and endothelial progenitor cells in the early phase of acute myocardial infarction. Blood (2004) 2.52
Prednisone plus methotrexate for polymyalgia rheumatica: a randomized, double-blind, placebo-controlled trial. Ann Intern Med (2004) 2.43
Megakaryocytes differentially sort mRNAs for matrix metalloproteinases and their inhibitors into platelets: a mechanism for regulating synthetic events. Blood (2011) 2.38
Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatr Nephrol (2008) 2.30
Long-term survival in patients undergoing cardiac resynchronization therapy: the importance of performing atrio-ventricular junction ablation in patients with permanent atrial fibrillation. Eur Heart J (2008) 2.29
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood (2011) 2.29
Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study. Br J Haematol (2013) 2.28
Infliximab plus prednisone or placebo plus prednisone for the initial treatment of polymyalgia rheumatica: a randomized trial. Ann Intern Med (2007) 2.27
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood (2013) 2.27
Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. Br J Haematol (2011) 2.24
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica (2007) 2.23
Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature (2010) 2.21
The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. Blood (2007) 2.16
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet (2009) 2.12
Platelet cyclooxygenase inhibition by low-dose aspirin is not reflected consistently by platelet function assays: implications for aspirin "resistance". J Am Coll Cardiol (2009) 2.11
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) (2003) 2.05
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat (2010) 2.03
Atrial fibrillation after isolated coronary surgery affects late survival. Circulation (2008) 2.02
Significance of total and differential leucocyte count in patients with acute myocardial infarction treated with primary coronary angioplasty. Eur Heart J (2006) 1.99
Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol (2008) 1.97
Clinical evaluation of defibrillation testing in an unselected population of 2,120 consecutive patients undergoing first implantable cardioverter-defibrillator implant. J Am Coll Cardiol (2012) 1.95
Serum N-terminal pro-brain natriuretic peptide is a sensitive marker of myocardial dysfunction in AL amyloidosis. Circulation (2003) 1.93
Localized infant neuroblastomas often show spontaneous regression: results of the prospective trials NB95-S and NB97. J Clin Oncol (2008) 1.91
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. Genome Biol (2013) 1.90
High IgA rheumatoid factor levels are associated with poor clinical response to tumour necrosis factor alpha inhibitors in rheumatoid arthritis. Ann Rheum Dis (2006) 1.88
Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer. Am J Hum Genet (2002) 1.86
Prognostic value of T-wave alternans in patients with heart failure due to nonischemic cardiomyopathy: results of the ALPHA Study. J Am Coll Cardiol (2007) 1.85
Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus-related chronic hepatitis: Insulin resistance and response to antiviral therapy. Hepatology (2007) 1.85
Are we not over-estimating the prevalence of coeliac disease in the general population? Ann Med (2010) 1.84
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein. Haematologica (2005) 1.79
Incidence of a first thromboembolic event in asymptomatic carriers of high-risk antiphospholipid antibody profile: a multicenter prospective study. Blood (2011) 1.79
Aspirin-insensitive thromboxane biosynthesis in essential thrombocythemia is explained by accelerated renewal of the drug target. Blood (2012) 1.78
Prognostic factors for malignant transformation in monoclonal gammopathy of undetermined significance and smoldering multiple myeloma. J Clin Oncol (2002) 1.76
Drug insight: aspirin resistance--fact or fashion? Nat Clin Pract Cardiovasc Med (2007) 1.76
Salivary phosphate-binding chewing gum reduces hyperphosphatemia in dialysis patients. J Am Soc Nephrol (2008) 1.75
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet (2012) 1.74
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. PLoS One (2009) 1.73
Analysis of telomeres in peripheral blood cells from patients with bone marrow failure. Pediatr Blood Cancer (2009) 1.71
Prognostic relevance of the echocardiographic assessment of right ventricular function in patients with idiopathic pulmonary arterial hypertension. Int J Cardiol (2008) 1.71
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Failure of implantable cardioverter-defibrillator leads: a matter of lead size? Heart Rhythm (2012) 1.68
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet (2004) 1.67
Nutritional parameters associated with prolonged hospital stay among ambulatory adult patients. CMAJ (2010) 1.65
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol (2005) 1.63
Home hospitalization service for acute uncomplicated first ischemic stroke in elderly patients: a randomized trial. J Am Geriatr Soc (2004) 1.63
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Haematologica (2009) 1.63
Evaluation of friction of stainless steel and esthetic self-ligating brackets in various bracket-archwire combinations. Am J Orthod Dentofacial Orthop (2003) 1.63
Simvastatin treatment modifies polymorphonuclear leukocyte function in high-risk individuals: a longitudinal study. J Hypertens (2006) 1.61
Evaluation of friction of conventional and metal-insert ceramic brackets in various bracket-archwire combinations. Am J Orthod Dentofacial Orthop (2003) 1.60
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. Am J Hematol (2010) 1.60
Severe lactic acidosis due to thiamine deficiency in a patient with B-cell leukemia/lymphoma on total parenteral nutrition during high-dose methotrexate therapy. J Pediatr Hematol Oncol (2003) 1.59
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol (2011) 1.59
Rituximab for the treatment of refractory autoimmune hemolytic anemia in children. Blood (2003) 1.58
Effects of nebivolol in elderly heart failure patients with or without systolic left ventricular dysfunction: results of the SENIORS echocardiographic substudy. Eur Heart J (2006) 1.58
Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci. PLoS Genet (2011) 1.57
Genetic polymorphisms of CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 and the risk of acquired idiopathic aplastic anemia in Caucasian patients. Haematologica (2005) 1.56
Observational study on the beneficial effect of preoperative statins in reducing atrial fibrillation after coronary surgery. Ann Thorac Surg (2007) 1.55
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res (2003) 1.55
A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood (2005) 1.54
Short-term survival of hyperammonemic neonates treated with dialysis. Pediatr Nephrol (2014) 1.54
Reperfusion of cerebral artery thrombosis by the GPIb-VWF blockade with the Nanobody ALX-0081 reduces brain infarct size in guinea pigs. Blood (2013) 1.53
Platelet P-selectin is required for pulmonary eosinophil and lymphocyte recruitment in a murine model of allergic inflammation. Blood (2004) 1.53
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat (2009) 1.52