Published in J Pediatr on June 01, 1974
Prenatal diagnosis: a directive approach to genetic counseling using decision analysis. Yale J Biol Med (1977) 2.28
Health care and disease prevention through genetic counseling: a regional approach. Am J Public Health (1976) 1.37
Squamous cell carcinoma arising in a meningomyelocele. Can Med Assoc J (1978) 0.88
Prenatal diagnosis of genetic disorders. J Med Genet (1976) 0.87
Alphafetoprotein and neural tube defects. J Clin Pathol Suppl (R Coll Pathol) (1976) 0.76
Prenatal detection of inherited disorders. J Natl Med Assoc (1981) 0.75
Editorial: Antenatal diagnosis of spina bifida. Br Med J (1975) 0.75
Teratogenicity of high vitamin A intake. N Engl J Med (1995) 5.53
Prenatal genetic diagnosis. I. N Engl J Med (1970) 3.67
The pathogenesis of arthritis associated with viral hepatitis. Complement-component studies. N Engl J Med (1971) 3.31
Maternal serum AFP secreening. N Engl J Med (1978) 3.17
Experimental mosquito-transmission of Plasmodium knowlesi to man and monkey. Am J Trop Med Hyg (1968) 2.89
Threatened survival of academic-based genetic laboratory services. Am J Hum Genet (1992) 2.65
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature (1992) 2.63
Prenatal genetic diagnosis (second of three parts). N Engl J Med (1970) 2.29
Prenatal diagnosis of neural tube defects. III. A reevaluation of the alpha-fetoprotein assay. Obstet Gynecol (1977) 2.24
The pathogenesis of arthritis associated with acute hepatitis-B surface antigen-positive hepatitis. Complement activation and characterization of circulating immune complexes. J Clin Invest (1975) 2.13
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA (1992) 2.11
Methotrexate-induced congenital malformations. J Pediatr (1968) 2.00
Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA (1984) 1.82
Duty to re-contact. Genet Med (2001) 1.80
A method for increasing the sensitivity of radial-immunodiffusion assay. Lancet (1970) 1.70
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet (1993) 1.64
Hepatitis-associated antigen and hepatoma in the U.S. Lancet (1971) 1.64
Cell-mediated immunity in acute and chronic hepatitis. J Clin Invest (1975) 1.63
Alpha-fetoprotein in a patient with gastric carcinoma metastatic to the liver. N Engl J Med (1971) 1.59
Agenesis or hypoplasia of major salivary and lacrimal glands. Am J Med Genet (1990) 1.57
Use of older donor livers is associated with more extensive ischemic damage on intraoperative biopsies during liver transplantation. Liver Transpl Surg (1999) 1.54
Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med (1979) 1.52
Elevation of CA-125 level is due to abdominal distension in liver transplantation candidates. Transplantation (2001) 1.40
The effect of gestational age on the detection rate of Down's syndrome by maternal serum alpha-fetoprotein screening. Am J Obstet Gynecol (1991) 1.39
Liver transplantation: therapeutic option in end-stage liver disease. Tex Med (1988) 1.37
Clinical studies on the radioimmunodetection of tumors containing alpha-fetoprotein. Cancer (1980) 1.34
Alpha-fetoprotein (AFP) in benign liver disease. Evidence that normal liver regeneration does not induce AFP synthesis. Gastroenterology (1978) 1.32
A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology (2000) 1.29
Natural history of benign esophageal stricture treated by dilatation. Gastroenterology (1983) 1.27
Carcino-foetal human liver ferritins. Nature (1973) 1.27
Human -fetoprotein. Isolation, characterization, and demonstration of microheterogeneity. J Biol Chem (1972) 1.26
Cerebral gigantism in childhood. A report of two cases and a review of the literature. Pediatrics (1967) 1.25
Human isoferritins: organ specific iron and apoferritin distribution. Br J Haematol (1975) 1.23
Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med (1975) 1.22
Inflammatory bowel disease associated circulating immune complexes. Gut (1980) 1.19
Abnormality in tissue isoferritin distribution in idiopathic haemochromatosis. Nature (1974) 1.19
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
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet (1995) 1.16
Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. Obstet Gynecol (1976) 1.16
Inflammatory bowel disease: study of cell mediated cytotoxicity for isolated human colonic epithelial cells. Gut (1980) 1.16
Effect of multiparity on human maternal hypersensitivity to foetal antigen. Nature (1973) 1.15
Beta-fetoprotein: identification as normal liver ferritin. Lancet (1973) 1.13
A double-blinded, randomized trial of hydrocortisone in acute hepatic failure. The Acute Hepatic Failure Study Group. Dig Dis Sci (1991) 1.13
Ocular neuroprotection by siRNA targeting caspase-2. Cell Death Dis (2011) 1.12
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
Liver transplantation for cholesteryl ester storage disease. J Pediatr Gastroenterol Nutr (1991) 1.08
CD44 involvement in experimental collagen-induced arthritis (CIA). J Autoimmun (1999) 1.08
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn (1990) 1.07
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun (1978) 1.05
Diabetes mellitus in Down's Syndrome. Arch Environ Health (1968) 1.04
Lysyl oxidase and collagenase in experimental acute and chronic liver injury. Gastroenterology (1982) 1.04
The roles of hyperglycaemia and oxidative stress in the rise and collapse of the natural protective mechanism against vascular endothelial cell dysfunction in diabetes. Arch Physiol Biochem (2007) 1.04
Prenatal diagnosis of Friedreich ataxia. Am J Med Genet (1989) 1.03
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet (1996) 1.02
A microassay for argininosuccinase in cultured cells. Am J Hum Genet (1972) 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
-fetoprotein in human hepatoma: improved detection in serum, and quantitative studies using a new sensitive technique. Gastroenterology (1971) 1.00
First-trimester drug use and congenital disorders. Obstet Gynecol (1985) 1.00
Helicobacter heilmannii-like spiral bacteria in gastric mucosal biopsies. Prevalence and clinical significance. Arch Pathol Lab Med (1995) 0.99
Amniocentesis for prenatal genetic studies. Obstet Gynecol (1972) 0.98
A prospective trial of D-penicillamine in primary biliary cirrhosis. N Engl J Med (1982) 0.98
Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat (1994) 0.98
Arthritis associated with chronic active hepatitis: complement activation and characterization of circulating immune complexes. Gastroenterology (1975) 0.97
Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. Am J Obstet Gynecol (1985) 0.97
Carcinoembryonic antigen: evidence for multiple antigenic determinants and isoantigens. Proc Natl Acad Sci U S A (1975) 0.97
Gamma G subgroups in human fetal, cord, and maternal sera. Clin Immunol Immunopathol (1973) 0.97
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
Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. Lancet (1969) 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
Alpha-fetoprotein levels in normal adults. Am J Med Sci (1992) 0.94
The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med (1972) 0.92
Downregulation of phorbol 12-myristate 13-acetate-induced tumor necrosis factor-alpha and interleukin-1 beta production and gene expression in human monocytic cells by human alpha-fetoprotein. Hepatology (1995) 0.92
Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol (1976) 0.92
Integrating routine inquiry about domestic violence into daily practice. Ann Intern Med (1999) 0.92
Deregulation of screening for alpha-fetoprotein in pregnancy. N Engl J Med (1984) 0.92
Hazards of amniocentesis. Lancet (1979) 0.92
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet (1990) 0.91
Current concepts in genetics. Prenatal diagnosis of genetic disorders. N Engl J Med (1976) 0.91
Radioimmunodetection of cancer with radiolabeled antibodies to alpha-fetoprotein. Cancer Res (1980) 0.91
The value of MLPA in Waardenburg syndrome. Genet Test (2007) 0.91
Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sci II (1972) 0.90
Diagnostic limitations of metachromasia. N Engl J Med (1969) 0.90
Alpha-1-fetoprotein. Clin Gastroenterol (1976) 0.90
Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet (1989) 0.89
Galactosyltransferase isoenzyme II in the detection of pancreatic cancer: comparison with radiologic, endoscopic, and serologic tests. N Engl J Med (1981) 0.89
Factors affecting the prognosis of primary liver carcinoma. J Clin Oncol (1988) 0.89
Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses. Clin Genet (2005) 0.88
Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod (1995) 0.88