Published in Life Sci II on November 22, 1972
Fibroblast heterogeneity and prostaglandin regulation of subpopulations. Proc Natl Acad Sci U S A (1977) 1.27
Early origin and pervasiveness of cellular heterogeneity in some malignant transformations. Proc Natl Acad Sci U S A (1984) 1.19
GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant. Am J Hum Genet (1974) 0.98
Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells. J Med Genet (1975) 0.88
Teratogenicity of high vitamin A intake. N Engl J Med (1995) 5.53
Prenatal genetic diagnosis. I. N Engl J Med (1970) 3.67
Maternal serum AFP secreening. N Engl J Med (1978) 3.17
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
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. Proc Natl Acad Sci U S A (1966) 2.32
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
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA (1992) 2.11
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J Clin Invest (1966) 2.01
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
Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. Science (1967) 1.78
Phosphatidylethanol formation via transphosphatidylation by rat brain synaptosomal phospholipase D. J Neurochem (1987) 1.77
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
Agenesis or hypoplasia of major salivary and lacrimal glands. Am J Med Genet (1990) 1.57
Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med (1979) 1.52
The base exchange enzymes and phospholipase D of mammalian tissue. Can J Biochem (1980) 1.33
A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology (2000) 1.29
The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue. J Biol Chem (1966) 1.25
Cerebral gigantism in childhood. A report of two cases and a review of the literature. Pediatrics (1967) 1.25
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
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
Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. Biochem Biophys Res Commun (1969) 1.12
A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun (1989) 1.11
The formation of sphingomyelin from phosphatidylcholine in plasma membrane preparations from mouse fibroblasts. Biochim Biophys Acta (1981) 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
The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr (1974) 1.08
Amyloid. VI. A comparison of two morphologic components of human amyloid deposits. J Histochem Cytochem (1968) 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
Gaucher's disease: neurologic disorder in adult siblings. Ann Intern Med (1973) 1.03
Prenatal diagnosis of Friedreich ataxia. Am J Med Genet (1989) 1.03
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02
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
Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet (1997) 1.02
The role of endogenous phosphatidylcholine and ceramide in the biosynthesis of sphingomyelin in mouse fibroblasts. Biochim Biophys Acta (1982) 1.01
First-trimester drug use and congenital disorders. Obstet Gynecol (1985) 1.00
Sphingolipid metabolism in leukemic leukocytes. Cancer Res (1967) 0.99
Microsomal phospholipase D of rat brain and lung tissues. Biochem Biophys Res Commun (1980) 0.99
Amniocentesis for prenatal genetic studies. Obstet Gynecol (1972) 0.98
Alteration of sphingolipid metabolism in leukocytes from patients with the Chediak-Higashi syndrome. N Engl J Med (1968) 0.98
The phosphorylcholine acceptor in the phosphatidylcholine:ceramide cholinephosphotransferase reaction. Is the enzyme a transferase or a hydrolase? Biochim Biophys Acta (1984) 0.98
The Gaucher mouse. Biochem Biophys Res Commun (1975) 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
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
The Gaucher mouse: differential action of conduritol B epoxide and reversibility of its effects. J Neurochem (1978) 0.93
Preparation of radioactive Tay-Sachs ganglioside labeled in the sialic acid moiety. J Lipid Res (1970) 0.93
The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med (1972) 0.92
Fatty acid activation and temperature perturbation of rat brain microsomal phospholipase D. J Neurochem (1982) 0.92
Deregulation of screening for alpha-fetoprotein in pregnancy. N Engl J Med (1984) 0.92
Hazards of amniocentesis. Lancet (1979) 0.92
Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol (1976) 0.92
[Surgical site infections after cesarean section: results of a five-year prospective surveillance]. J Gynecol Obstet Biol Reprod (Paris) (2004) 0.92
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
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet (1990) 0.91
Diagnostic limitations of metachromasia. N Engl J Med (1969) 0.90
Synaptosomal phospholipase D potential role in providing choline for acetylcholine synthesis. J Neurochem (1985) 0.90
Deficiency of glucosylsphingosine: beta-glucosidase in Gaucher disease. Biochem Biophys Res Commun (1973) 0.89
The enzymatic synthesis of gangliosides. I. The incorporation of labeled N-acetylneuraminic acid into monosialoganglioside. Biochem Biophys Res Commun (1964) 0.89
Response of sphingolipid hydrolases in spleen and liver to increased erythrocytorhexis. Biochim Biophys Acta (1967) 0.89
Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet (1989) 0.89
Myelination delay in the cerebral white matter of immature rats with kaolin-induced hydrocephalus is reversible. J Neuropathol Exp Neurol (1997) 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
Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. Am J Hum Genet (1989) 0.88
Letter: Elevated amniotic-fluid alpha-fetoprotein and duodenal atresia. Lancet (1975) 0.88
Phosphocreatine-dependent glutamate uptake by synaptic vesicles. A comparison with atp-dependent glutamate uptake. J Biol Chem (1996) 0.88
Secretion by a hybridoma of antibodies against human alpha-fetoprotein. N Engl J Med (1980) 0.88
Deficiency of steriod beta-glucosidase in Gaucher disease. Biochem Biophys Res Commun (1975) 0.87
Reduced phospholipase D activity in brain tissue samples from Alzheimer's disease patients. Ann Neurol (1986) 0.87
L-Ascorbic acid and lysosomal acid hydrolase activities of guinea pig liver and brain. Can J Biochem (1978) 0.87
Clinical and neurochemical effects of acetyl-L-carnitine in Alzheimer's disease. Neurobiol Aging (1995) 0.87
Hydrolytic and transglucolytic activities of a partially purified calf brain beta-glucosidase. J Neurochem (1976) 0.86
Base exchange reactions of the phospholipids in rat brain particles. J Lipid Res (1972) 0.86
Genetics, law and obstetric practice. Br J Obstet Gynaecol (1983) 0.86
Partial purification and properties of a rat brain phospholipase. J Biol Chem (1979) 0.86
On the loss of gangliosides by dialysis. J Neurochem (1973) 0.86
Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet (1999) 0.86
Interstitial deletion involving most of Yq. Am J Med Genet (1990) 0.85
The Hunter syndrome in a 46 XX girl. N Engl J Med (1973) 0.85
The metabolism of glucocerebrosides. 3. Purification and properties of a glucosyl- and galactosylceramide-cleaving enzyme from rat intestinal tissue. J Biol Chem (1965) 0.85
Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. Hum Genet (1989) 0.84