Published in Pediatr Res on May 01, 1978
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Maternal serum AFP secreening. N Engl J Med (1978) 3.17
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The enzymic formation of myoinositol 1:2-cyclic phosphate from phosphatidylinositol. Biochem J (1971) 2.15
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Phospholipid synthesis and exchange in isolated liver cells. Biochem J (1970) 1.55
Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med (1979) 1.52
The metabolism of phosphatidylinositol in the thyroid gland of the pig. Biochem J (1971) 1.45
Biological activity of epoxides of vitamin A. Indian J Biochem (1970) 1.44
Structure of a glycolipid reacting with monoclonal IgM in neuropathy and with HNK-1. Biochem Biophys Res Commun (1985) 1.35
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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
Synthesis and turnover of cerebrosides and phosphatidylserine of myelin and microsomal fractions of adult and developing rat brain. Biochem J (1976) 1.16
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
Binding of Pseudomonas aeruginosa to neutral glycosphingolipids of rabbit corneal epithelium. Infect Immun (1990) 1.08
The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr (1974) 1.08
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn (1990) 1.07
Anti-peripheral nerve myelin antibodies in Guillain-Barre syndrome bind a neutral glycolipid of peripheral myelin and cross-react with Forssman antigen. J Clin Invest (1989) 1.06
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
Acetonitrile-hydrochloric acid hydrolysis of gangliosides for high performance liquid chromatographic analysis of their long chain bases. J Lipid Res (1983) 1.03
The turnover of myelin phospholipids in the adult and developing rat brain. Biochem J (1971) 1.03
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
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
Glycosidases in the nervous system. 3. Separation, purification, and substrate specificities of beta-galactosidases and beta-glucuronidase from brain. J Biol Chem (1968) 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
Cloning of a mouse beta 1,3 N-acetylglucosaminyltransferase GlcNAc(beta 1,3)Gal(beta 1,4)Glc-ceramide synthase gene encoding the key regulator of lacto-series glycolipid biosynthesis. J Biol Chem (2001) 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
Compositional and molecular species analysis of phospholipids by high performance liquid chromatography coupled with chemical ionization mass spectrometry. J Lipid Res (1984) 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
Phase behavior of galactocerebrosides from bovine brain. Biochemistry (1985) 0.96
The beta 1,3-galactosyltransferase beta 3GalT-V is a stage-specific embryonic antigen-3 (SSEA-3) synthase. J Biol Chem (2000) 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
Synthesis and turnover of cerebroside sulfate of myelin in adult and developing rat brain. J Lipid Res (1974) 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
Sulfated glucuronic acid-containing glycoconjugates are temporally and spatially regulated antigens in the developing mammalian nervous system. Dev Biol (1987) 0.93
The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med (1972) 0.92
Deregulation of screening for alpha-fetoprotein in pregnancy. N Engl J Med (1984) 0.92
Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol (1976) 0.92
Reversed-phase high performance liquid chromatography of phosphatidylcholine: a simple method for determining relative hydrophobic interaction of various molecular species. J Lipid Res (1981) 0.92
Hazards of amniocentesis. Lancet (1979) 0.92
Current concepts in genetics. Prenatal diagnosis of genetic disorders. N Engl J Med (1976) 0.91
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet (1990) 0.91
The value of MLPA in Waardenburg syndrome. Genet Test (2007) 0.91
Analysis of sphingoid bases by reversed-phase high performance liquid chromatography. J Lipid Res (1983) 0.90
Diagnostic limitations of metachromasia. N Engl J Med (1969) 0.90
Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sci II (1972) 0.90
Beta-hexosaminidases in the nervous system: the quantitative histochemistry of beta-glucosaminidase and beta-galactosaminidase in the cerebellar cortex and subjacent white matter. J Histochem Cytochem (1970) 0.90
UDP-galactose-ceramide galactosyltransferase in rat brain myelin subfractions during development. Biochem J (1980) 0.89
Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet (1989) 0.89
Composition and metabolism of gangliosides in rat peripheral nervous system during development. J Neurochem (1982) 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
Secretion by a hybridoma of antibodies against human alpha-fetoprotein. N Engl J Med (1980) 0.88
Gangliosides GM2, IV4GalNAcGM1b, and IV4GalNAcGC1a as antigens for monoclonal immunoglobulin M in neuropathy associated with gammopathy. J Biol Chem (1988) 0.88
Sulfoglucuronyl glycolipids bind laminin. J Neurochem (1990) 0.87
Monoclonal antibody to embryonic CNS antigen A2B5 provides evidence for the involvement of membrane components at sites of Alzheimer degeneration and detects sulfatides as well as gangliosides. J Neurochem (1989) 0.87
Protein-catalyzed exchange of phosphatidylinositol between rat brain microsomes and myelin. J Biol Chem (1979) 0.87
Variability in the structural requirements for binding of human monoclonal anti-myelin-associated glycoprotein immunoglobulin M antibodies and HNK-1 to sphingoglycolipid antigens. J Neurochem (1990) 0.87
Genetics, law and obstetric practice. Br J Obstet Gynaecol (1983) 0.86
Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet (1999) 0.86
Separation of molecular species of sphingomyelin by reversed-phase high-performance liquid chromatography. J Lipid Res (1979) 0.85
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
Identification of alpha-galactose (alpha-fucose)-asialo-GM1 glycolipid expressed by subsets of rat dorsal root ganglion neurons. J Biol Chem (1989) 0.85
Deuterium NMR studies of cerebroside-phospholipid bilayers. Biochim Biophys Acta (1979) 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
The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis. Biochem J (2001) 0.84
Abnormalities of chromosome 22 in meningiomas and confirmation of the origin of a dicentric 22 by in situ hybridization. Cancer Genet Cytogenet (1992) 0.84