Published in N Engl J Med on June 21, 1984
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Association between exposure to environmental tobacco smoke and exacerbations of asthma in children. N Engl J Med (1993) 5.56
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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
Threatened survival of academic-based genetic laboratory services. Am J Hum Genet (1992) 2.65
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Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA (1984) 1.82
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An unsuccessful cotinine-assisted intervention strategy to reduce environmental tobacco smoke exposure during infancy. Am J Dis Child (1992) 1.61
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Agenesis or hypoplasia of major salivary and lacrimal glands. Am J Med Genet (1990) 1.57
Prevalence of thyroid deficiency in pregnant women. Clin Endocrinol (Oxf) (1991) 1.56
Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med (1979) 1.52
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
Why the term "carrier screening" should be abandoned. J Med Screen (1997) 1.39
Lipoprotein(a) levels in peripheral atherosclerotic disease. J Vasc Surg (1995) 1.39
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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
A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology (2000) 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
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Determination of nicotine and cotinine in human serum and urine: an interlaboratory study. Toxicol Lett (1987) 1.23
Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med (1975) 1.22
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr (1976) 1.19
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. Obstet Gynecol (1976) 1.16
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet (1995) 1.16
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
A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun (1989) 1.11
Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. JAMA (1974) 1.10
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet (1993) 1.09
Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia. J Pediatr (1987) 1.09
The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr (1974) 1.08
Prenatal screening for cystic fibrosis. Lancet (1994) 1.07
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn (1990) 1.07
Environmental tobacco smoke exposure during infancy. Am J Public Health (1990) 1.06
Lipoprotein(a) as a risk factor for ischemic heart disease: metaanalysis of prospective studies. Clin Chem (1998) 1.06
Prospective intervention trial of a screening protocol to identify fetal trisomy 18 using maternal serum alpha-fetoprotein, unconjugated oestriol, and human chorionic gonadotropin. Prenat Diagn (1992) 1.05
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun (1978) 1.05
Relation between maternal weight and serum alpha-fetoprotein concentration during the second trimester. Clin Chem (1981) 1.04
Diabetes mellitus in Down's Syndrome. Arch Environ Health (1968) 1.04
Prenatal diagnosis of Friedreich ataxia. Am J Med Genet (1989) 1.03
A microassay for argininosuccinase in cultured cells. Am J Hum Genet (1972) 1.02
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet (1996) 1.02
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02
Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet (1997) 1.02
First-trimester drug use and congenital disorders. Obstet Gynecol (1985) 1.00
Simultaneous fetal and maternal cotinine levels in pregnant women smokers. Am J Obstet Gynecol (1993) 1.00
The effect of smoking in pregnancy on maternal serum alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin, progesterone and dehydroepiandrosterone sulphate levels. Br J Obstet Gynaecol (1990) 1.00
Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. N Engl J Med (1983) 0.99
Exposure to environmental tobacco smoke measured by cotinine 125I-radioimmunoassay. Clin Chem (1989) 0.99
Amniocentesis for prenatal genetic studies. Obstet Gynecol (1972) 0.98
Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat (1994) 0.98
Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. Am J Obstet Gynecol (1985) 0.97
Ingestion of charcoal lighter fluid. J Pediatr (1975) 0.97
Maternal serum unconjugated estriol levels are lower in the presence of fetal Down syndrome. Am J Obstet Gynecol (1990) 0.96
Familial congenital disorder resembling stiff-man syndrome. Am J Dis Child (1972) 0.96
Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstet Gynecol (1982) 0.96
The Cri du Chat syndrome. J Ment Defic Res (1966) 0.95
Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A (1987) 0.95
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J Pediatr (1976) 0.94
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet (2001) 0.94
Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. Lancet (1969) 0.94
Couple screening to avoid thalassemia: successful in Iran and instructive for us. J Med Screen (2005) 0.94
The amnion regulates movement of fetally derived alpha-fetoprotein into maternal blood. J Lab Clin Med (1979) 0.93
The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med (1972) 0.92
Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol (1976) 0.92
Hazards of amniocentesis. Lancet (1979) 0.92
Lipids and lipoproteins in persons with Down's syndrome. J Intellect Disabil Res (1992) 0.92
Acetylcholinesterase and fetal malformations: modified qualitative technique for diagnosis of neural tube defects. Clin Chem (1981) 0.92
A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. J Clin Invest (1990) 0.91
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet (1990) 0.91
Relapse following ampicillin treatment of acute Hemophilus influenzae meningitis. Pediatrics (1968) 0.91
Cigarette smoking-associated changes in blood lipid and lipoprotein levels in the 8- to 19-year-old age group: a meta-analysis. Pediatrics (1990) 0.91
Current concepts in genetics. Prenatal diagnosis of genetic disorders. N Engl J Med (1976) 0.91
The value of MLPA in Waardenburg syndrome. Genet Test (2007) 0.91
Maternal serum alpha-fetoprotein screening for fetal Down syndrome in the United States: results of a survey. Am J Obstet Gynecol (1990) 0.91