Published in J Med Screen on January 01, 2001
Provocation of sudden heart rate oscillation with adenosine exposes abnormal QT responses in patients with long QT syndrome: a bedside test for diagnosing long QT syndrome. Eur Heart J (2005) 1.61
Molecular Pathophysiology of Congenital Long QT Syndrome. Physiol Rev (2017) 0.85
QT dispersion increases with low glomerular filtration rate in patients with coronary artery disease. Pak J Med Sci (2014) 0.75
Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child. N Engl J Med (1999) 11.19
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell (1995) 10.18
Maternal serum screening for Down's syndrome in early pregnancy. BMJ (1988) 8.65
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation (2000) 7.50
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet (1996) 7.35
Apolipoproteins and ischaemic heart disease: implications for screening. Lancet (1994) 6.62
Association between exposure to environmental tobacco smoke and exacerbations of asthma in children. N Engl J Med (1993) 5.56
Prenatal screening for Down's syndrome with use of maternal serum markers. N Engl J Med (1992) 5.21
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation (2000) 5.09
Diagnostic criteria for the long QT syndrome. An update. Circulation (1993) 4.48
The long QT syndrome. Prospective longitudinal study of 328 families. Circulation (1991) 3.99
ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation (1995) 3.79
Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N Engl J Med (1998) 3.41
Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science (1991) 3.38
Is it time for population-based prenatal screening for fragile-X? Lancet (1993) 3.24
Cigarette smoking and serum lipid and lipoprotein concentrations: an analysis of published data. BMJ (1989) 2.96
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation (2000) 2.95
Improved 125I radioimmunoassay for cotinine by selective removal of bridge antibodies. Clin Chem (1985) 2.79
Urinary cotinine as marker of breathing other people's tobacco smoke. Lancet (1984) 2.74
Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS. Circulation (1996) 2.70
Prenatal screening for trisomy 18 in the second trimester. Prenat Diagn (1990) 2.66
Maternal serum unconjugated oestriol as an antenatal screening test for Down's syndrome. Br J Obstet Gynaecol (1988) 2.62
Molecular basis of the long-QT syndrome associated with deafness. N Engl J Med (1997) 2.57
Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening. N Engl J Med (1994) 2.56
Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. Circulation (1998) 2.53
Maternal thyroid deficiency and pregnancy complications: implications for population screening. J Med Screen (2000) 2.47
Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome. Br J Obstet Gynaecol (1988) 2.40
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet (1995) 2.30
When is it appropriate to apply fetal cell isolation clinically? Am J Obstet Gynecol (1995) 2.17
Cotinine-assisted intervention in pregnancy to reduce smoking and low birthweight delivery. Br J Obstet Gynaecol (1991) 1.96
Higher serum bilirubin is associated with decreased risk for early familial coronary artery disease. Arterioscler Thromb Vasc Biol (1996) 1.94
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics (1998) 1.93
Coronary spasm producing coronary thrombosis and myocardial infarction. N Engl J Med (1983) 1.91
Q-T interval syndromes. Prog Cardiovasc Dis (1974) 1.69
An unsuccessful cotinine-assisted intervention strategy to reduce environmental tobacco smoke exposure during infancy. Am J Dis Child (1992) 1.61
Risk-based prenatal screening for trisomy 18 using alpha-fetoprotein, unconjugated oestriol and human chorionic gonadotropin. Prenat Diagn (1995) 1.60
Prevalence of thyroid deficiency in pregnant women. Clin Endocrinol (Oxf) (1991) 1.56
Hypothesis for the molecular physiology of the Romano-Ward long QT syndrome. J Am Coll Cardiol (1992) 1.55
Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nat Genet (1994) 1.55
New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Circulation (1998) 1.53
Second-trimester serum cotinine levels in nonsmokers in relation to birth weight. Am J Obstet Gynecol (1988) 1.49
The impact of preconception counseling on pregnancy outcomes. The experience of the Maine Diabetes in Pregnancy Program. Diabetes Care (1993) 1.47
Down's syndrome screening with nuchal translucency. Lancet (1997) 1.44
Prenatal screening for open neural-tube defects in Maine. N Engl J Med (1999) 1.42
Rapid detection of neonatal group B streptococcal infections by latex agglutination. J Pediatr (1980) 1.40
Lipoprotein(a) levels in peripheral atherosclerotic disease. J Vasc Surg (1995) 1.39
Why the term "carrier screening" should be abandoned. J Med Screen (1997) 1.39
Maternal serum alpha-fetoprotein, age, and Down syndrome risk. Am J Obstet Gynecol (1987) 1.39
Second trimester screening for Down's syndrome using maternal serum dimeric inhibin A. J Med Screen (1998) 1.38
Use of serum cotinine to assess the accuracy of self reported non-smoking. Br Med J (Clin Res Ed) (1986) 1.36
Cigarette consumption and serum cotinine in relation to birthweight. Br J Obstet Gynaecol (1987) 1.32
Population screening for haemochromatosis: a unifying analysis of published intervention trials. J Med Screen (1996) 1.31
Population screening for haemochromatosis: expectations based on a study of relatives of symptomatic probands. J Med Screen (1996) 1.29
Hereditary haemochromatosis: to screen or not. Conditions for screening are not yet fulfilled. BMJ (1999) 1.28
Hereditary haemochromatosis mutation frequencies in the general population. J Med Screen (1998) 1.27
Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome. Am J Cardiol (1999) 1.25
Plasma homocyst(e)ine as a risk factor for early familial coronary artery disease. Clin Chem (1994) 1.24
Young maternal age and smoking during pregnancy as risk factors for gastroschisis. Teratology (1993) 1.24
Determination of nicotine and cotinine in human serum and urine: an interlaboratory study. Toxicol Lett (1987) 1.23
KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death. Clin Genet (2003) 1.16
Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11. Am J Hum Genet (1991) 1.15
Reference distributions for the negative acute-phase serum proteins, albumin, transferrin and transthyretin: a practical, simple and clinically relevant approach in a large cohort. J Clin Lab Anal (1999) 1.14
Relation of severity of maternal hypothyroidism to cognitive development of offspring. J Med Screen (2001) 1.13
Understanding and managing hypernatremic dehydration. Pediatr Clin North Am (1974) 1.11
Refinements in managing maternal weight adjustment for interpreting prenatal screening results. Prenat Diagn (1996) 1.11
Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia. J Pediatr (1987) 1.09
Prenatal screening for cystic fibrosis. Lancet (1994) 1.07
Lipoprotein(a) as a risk factor for ischemic heart disease: metaanalysis of prospective studies. Clin Chem (1998) 1.06
Environmental tobacco smoke exposure during infancy. Am J Public Health (1990) 1.06