Published in Clin Chem on September 27, 2007
High resolution melting applications for clinical laboratory medicine. Exp Mol Pathol (2008) 1.92
LightCycler technology in molecular diagnostics. J Mol Diagn (2009) 1.21
High resolution melting analysis for gene scanning. Methods (2010) 1.14
High resolution melting analysis for JAK2 Exon 14 and Exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms. J Mol Diagn (2009) 1.06
Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Mol Diagn (2008) 1.03
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene. BMC Cancer (2011) 0.86
Genetic screening of Fabry patients with EcoTILLING and HRM technology. BMC Res Notes (2011) 0.86
Enhanced primer selection and synthetic amplicon templates optimize high-resolution melting analysis of single-nucleotide polymorphisms in a large population. Genet Test Mol Biomarkers (2013) 0.80
Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder. Autism Res Treat (2012) 0.80
Cancer mutation screening: Comparison of high-resolution melt analysis between two platforms. Ecancermedicalscience (2015) 0.75
A 2-h diagnostic protocol to assess patients with chest pain symptoms in the Asia-Pacific region (ASPECT): a prospective observational validation study. Lancet (2011) 5.61
Early intervention with erythropoietin does not affect the outcome of acute kidney injury (the EARLYARF trial). Kidney Int (2010) 3.37
Improved performance of urinary biomarkers of acute kidney injury in the critically ill by stratification for injury duration and baseline renal function. Kidney Int (2011) 3.05
A comparison between two strategies for monitoring hepatic function during antituberculous therapy. Am J Respir Crit Care Med (2011) 2.22
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat Genet (2008) 1.97
Fibrates may cause an abnormal urinary betaine loss which is associated with elevations in plasma homocysteine. Cardiovasc Drugs Ther (2009) 1.49
Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease (VWD) from Type 2B VWD using a simplified ristocetin-induced-platelet-agglutination mixing assay and confirmed by genetic analysis. Br J Haematol (2007) 1.43
Prospective validation of cerebrospinal fluid bilirubin in suspected subarachnoid haemorrhage. Ann Clin Biochem (2007) 1.40
Coenzyme Q10: an independent predictor of mortality in chronic heart failure. J Am Coll Cardiol (2008) 1.35
Effect of coenzyme Q(10) supplementation on simvastatin-induced myalgia. Am J Cardiol (2007) 1.31
Contamination of Qiagen DNA extraction kits with Legionella DNA. J Clin Microbiol (2003) 1.22
Cystatin C--a paradigm of evidence based laboratory medicine. Clin Biochem Rev (2008) 1.17
Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication. Hum Mutat (2007) 1.15
Trimethylaminuria: causes and diagnosis of a socially distressing condition. Clin Biochem Rev (2011) 1.12
Mutant fibrinogen cleared from the endoplasmic reticulum via endoplasmic reticulum-associated protein degradation and autophagy: an explanation for liver disease. Am J Pathol (2006) 1.09
The relative effects of fat versus muscle mass on cystatin C and estimates of renal function in healthy young men. Ann Clin Biochem (2012) 1.06
Vitamin D receptor genotypes influence the success of calcitriol therapy for recurrent vertebral fracture in osteoporosis. Pharmacogenet Genomics (2005) 1.05
Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa. Atherosclerosis (2007) 1.02
Plasma lipids and betaine are related in an acute coronary syndrome cohort. PLoS One (2011) 0.97
Homocysteine, glycine betaine, and N,N-dimethylglycine in patients attending a lipid clinic. Metabolism (2005) 0.96
Combining aspirin with cholecalciferol (vitamin D3)--a potential new tool for controlling possum populations. PLoS One (2013) 0.96
Coenzyme Q10: is there a clinical role and a case for measurement? Clin Biochem Rev (2008) 0.95
Novel fibrinogen gamma375 Arg-->Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology (2002) 0.94
Effects of orange juice and proline betaine on glycine betaine and homocysteine in healthy male subjects. Eur J Nutr (2007) 0.93
Use of fully denaturing HPLC for UGT1A1 genotyping in Gilbert syndrome. Clin Chem (2005) 0.92
Dietary and supplementary betaine: acute effects on plasma betaine and homocysteine concentrations under standard and postmethionine load conditions in healthy male subjects. Am J Clin Nutr (2008) 0.92
Proteome-wide analysis and CXCL4 in systemic sclerosis. N Engl J Med (2014) 0.92
The Ecarin time is an improved confirmatory test for the Taipan snake venom time in warfarinized patients with lupus anticoagulants. Blood Coagul Fibrinolysis (2003) 0.92
Trinucleotide repeat variants in the promoter of the thiopurine S-methyltransferase gene of patients exhibiting ultra-high enzyme activity. Pharmacogenet Genomics (2008) 0.90
Betaine and secondary events in an acute coronary syndrome cohort. PLoS One (2012) 0.90
A prospective study of recombinant activated factor VII administered by continuous infusion to inhibitor patients undergoing elective major orthopaedic surgery: a pharmacokinetic and efficacy evaluation. Br J Haematol (2003) 0.88
Benefits of knowledge-based interprofessional communication skills training in medical undergraduate education. JRSM Short Rep (2011) 0.88
Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency. Am J Med Genet A (2004) 0.87
Functional rescue of mutant ABCA1 proteins by sodium 4-phenylbutyrate. J Lipid Res (2012) 0.87
Inter- and intra-individual variations in normal urinary glycine betaine excretion. Clin Biochem (2007) 0.87
Betaine supplementation decreases post-methionine hyperhomocysteinemia in chronic renal failure. Kidney Int (2002) 0.87
Evaluation of high-resolution melting analysis for screening the LDL receptor gene. Clin Biochem (2008) 0.86
Effect of atorvastatin on plasma levels of asymmetric dimethylarginine in patients with non-ischaemic heart failure. Eur J Heart Fail (2008) 0.86
Betaine analogues alter homocysteine metabolism in rats. Int J Biochem Cell Biol (2004) 0.85
Performance of Xpert MTB/RIF in the diagnosis of tuberculous mediastinal lymphadenopathy by endobronchial ultrasound. Ann Am Thorac Soc (2014) 0.85
Variability of plasma and urine betaine in diabetes mellitus and its relationship to methionine load test responses: an observational study. Cardiovasc Diabetol (2012) 0.84
Endothelium-ameliorating effects of statin therapy and coenzyme Q10 reductions in chronic heart failure. Atherosclerosis (2004) 0.84
Biological variation of coenzyme Q10. Clin Chem (2005) 0.83
Plasma and urine betaine and dimethylglycine variation in healthy young male subjects. Clin Biochem (2009) 0.83
Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. Hum Mutat (2002) 0.82
Coenzyme Q10; an adjunctive therapy for congestive heart failure? N Z Med J (2009) 0.82
Sex differences in the control of plasma concentrations and urinary excretion of glycine betaine in patients attending a lipid disorders clinic. Clin Biochem (2007) 0.82
The sialic acid content of fibrinogen decreases during pregnancy and increases in response to fibrate therapy. Thromb Res (2005) 0.82
A randomized, double-blind, placebo-controlled crossover study of coenzyme Q10 therapy in hypertensive patients with the metabolic syndrome. Am J Hypertens (2011) 0.81
Fibrinogen B beta polymorphisms do not directly contribute to an altered in vitro clot structure in humans. Thromb Haemost (2003) 0.81
An abnormal urinary excretion of glycine betaine may persist for years. Clin Biochem (2007) 0.81
Role of genetic testing in retinoblastoma management at a tertiary referral centre. Clin Experiment Ophthalmol (2010) 0.81
Folate and vitamin B12 status of women of reproductive age living in Hanoi City and Hai Duong Province of Vietnam. Public Health Nutr (2008) 0.81
A nuclear-magnetic-resonance-based assay for betaine-homocysteine methyltransferase activity. Anal Biochem (2004) 0.80
Betaine excretion correlates with plasma homocysteine when plasma lipids are elevated. Clin Biochem (2011) 0.80
Betaine structure and the presence of hydroxyl groups alters the effects on DNA melting temperatures. Biopolymers (2009) 0.80
Hypofibrinogenaemia associated with common gamma82Ala-->Gly mutation is not mediated by altered mRNA splicing. Thromb Haemost (2006) 0.79
Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia. Ann Neurol (2005) 0.79
Comparative performances of the new chronic kidney disease epidemiology equations incorporating cystatin C for use in cancer patients. Asia Pac J Clin Oncol (2014) 0.79
Low molecular weight heparin (tinzaparin) therapy for moderate risk thromboprophylaxis during pregnancy. A pharmacokinetic study. Thromb Haemost (2004) 0.79
Preventing cardiovascular disease: a review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand. N Z Med J (2010) 0.78
Plasma betaine concentrations correlate with plasma cortisol but not with C-reactive protein in an elderly population. Clin Chem Lab Med (2012) 0.78
Rosuvastatin in older patients with systolic heart failure. N Engl J Med (2008) 0.78
An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations. Biochem Biophys Res Commun (2011) 0.78
Fibrinogen Darlinghurst: hypofibrinogenaemia caused by a W253G mutation in the gamma chain in a patient with both bleeding and thrombotic complications. Thromb Haemost (2006) 0.78
Fibrinogen Montreal: a novel missense mutation (Aa D496N) associated with hypofibrinogenaemia. Thromb Haemost (2006) 0.78
Novel fibrinogen Bbeta gene mutation causing hypofibrinogenaemia. Thromb Haemost (2002) 0.77
Evidence that pulmonary vascular pathology explains the decline in lung function associated with interferon α based therapies for chronic hepatitis C virus. J Viral Hepat (2013) 0.77
Low expression of truncated Aalpha chain variant in circulating fibrinogen. Thromb Haemost (2002) 0.77
Comparison of two prediction equations with radionuclide glomerular filtration rate: validation in routine use. Ann Clin Biochem (2006) 0.77
Lungfish albumin is more similar to tetrapod than to teleost albumins: purification and characterisation of albumin from the Australian lungfish, Neoceratodus forsteri. Comp Biochem Physiol B Biochem Mol Biol (2007) 0.77
The contrasting relationships between betaine and homocysteine in two clinical cohorts are associated with plasma lipids and drug treatments. PLoS One (2012) 0.77
Novel fibrinogen truncation with deletion of Bbeta chain residues 440-461 causes hypofibrinogenaemia. Thromb Haemost (2002) 0.77
Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemia. Hum Genet (2007) 0.77
Comparison of the Mayo Clinic Quadratic Equation with the Modification of Diet in Renal Disease equation and radionuclide glomerular filtration rate in a clinical setting. Nephrology (Carlton) (2008) 0.76
Dual porphyria with mutations in both the UROD and HMBS genes. Ann Clin Biochem (2006) 0.76
Extreme urinary betaine losses in type 2 diabetes combined with bezafibrate treatment are associated with losses of dimethylglycine and choline but not with increased losses of other osmolytes. Cardiovasc Drugs Ther (2014) 0.76
Fibrinogen Hillsborough: a novel gammaGly309Asp dysfibrinogen with impaired clotting. Blood (2002) 0.76
Relationship between plasma coenzyme Q10, asymmetric dimethylarginine and arterial stiffness in patients with phenotypic or genotypic familial hypercholesterolemia on long-term statin therapy. Atherosclerosis (2011) 0.76
A patient with pseudo-Addison's disease and falsely elevated thyroxine due to interference in serum cortisol and free thyroxine immunoassays by two different mechanisms. Ann Clin Biochem (2009) 0.75
A model of care for familial hypercholesterolaemia: key role for clinical biochemistry. Clin Biochem Rev (2012) 0.75
Chronic kidney disease and automatic reporting of estimated glomerular filtration rate. Med J Aust (2006) 0.75
Novel gamma230 Asn-->Asp substitution in fibrinogen Middlemore associated hypofibrinogenaemia. Thromb Haemost (2005) 0.75
Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene. Ann Clin Biochem (2011) 0.75
Hypofibrinogenaemia associated with a novel heterozygous gamma289 Ala -->Val substitution (fibrinogen Dorfen). Thromb Haemost (2004) 0.75
Hb taradale [beta82(EF6)Lys-->Arg]: a novel mutation at a 2,3-diphosphoglycerate binding site. Hemoglobin (2005) 0.75
Dimethylglycine supplementation does not affect plasma homocysteine concentrations in pre-dialysis chronic renal failure patients. Clin Biochem (2004) 0.75
Genotyping the factor VIII intron 22 inversion locus using fluorescent in situ hybridization. Blood Cells Mol Dis (2011) 0.75
Pharmacokinetic comparison of a generic coenzyme Q₁₀ solubilizate and a formulation with soybean phytosterols. Phytother Res (2012) 0.75
Blood safety. N Z Med J (2013) 0.75
Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations. Pathology (2005) 0.75
A new model of care for familial hypercholesterolaemia: what is the role of cardiology? Heart Lung Circ (2012) 0.75
A mass-spectroscopic method for measuring des-Leu albumin--a novel marker for chronic pancreatitis. Clin Biochem (2012) 0.75
Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome. Am J Med Genet A (2013) 0.75
Using the experiences of people with familial hypercholesterolaemia to help reduce the risk of cardiovascular disease: a qualitative systematic review. J Adv Nurs (2012) 0.75