Published in Nucleic Acids Res on July 11, 1990
Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet (1993) 1.77
Genotypic analysis of multiple loci in somatic cells by whole genome amplification. Nucleic Acids Res (1995) 1.24
The human DNA polymerase beta gene structure. Evidence of alternative splicing in gene expression. Nucleic Acids Res (1994) 0.85
Genetic linkage evaluation of twenty-four loci in an eastern Canadian family segregating Darier's disease (keratosis follicularis). J Am Acad Dermatol (1994) 0.79
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet (1989) 62.23
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet (1989) 62.23
The Gene Ontology (GO) database and informatics resource. Nucleic Acids Res (2004) 54.37
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature (1993) 21.65
Human c-myc onc gene is located on the region of chromosome 8 that is translocated in Burkitt lymphoma cells. Proc Natl Acad Sci U S A (1982) 11.15
The DNA sequence of human chromosome 21. Nature (2000) 10.66
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29
Gene Ontology annotations and resources. Nucleic Acids Res (2012) 6.13
Dinucleotide repeat polymorphism at the D10S89 locus. Nucleic Acids Res (1990) 5.21
Hu-ets-1 and Hu-ets-2 genes are transposed in acute leukemias with (4;11) and (8;21) translocations. Science (1986) 5.16
Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci U S A (1997) 4.89
Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions. EMBO J (1990) 4.49
Fractionation of large mammalian DNA restriction fragments using vertical pulsed-field gradient gel electrophoresis. Somat Cell Mol Genet (1986) 3.48
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics (1993) 3.25
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet (1997) 2.77
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. Nucleic Acids Res (1990) 2.62
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45
Lactobacillus casei microbiological assay of folic acid derivatives in 96-well microtiter plates. Clin Chem (1988) 2.45
Partial physical map of human chromosome 21. Somat Cell Mol Genet (1988) 2.27
PTEN/MMAC1 mutations identified in small cell, but not in non-small cell lung cancers. Oncogene (1998) 1.98
Lipid abnormalities in male and female survivors of myocardial infarction and their first-degree relatives. Lancet (1972) 1.95
Activation of EVI1 gene expression in human acute myelogenous leukemias by translocations spanning 300-400 kilobases on chromosome band 3q26. Proc Natl Acad Sci U S A (1992) 1.90
Hydrogen peroxide causes the fatal injury to human fibroblasts exposed to oxygen radicals. J Biol Chem (1981) 1.88
Identification of class-mu glutathione transferase genes GSTM1-GSTM5 on human chromosome 1p13. Am J Hum Genet (1993) 1.83
Mapping of human chromosome 5 microsatellite DNA polymorphisms. Genomics (1991) 1.74
A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity. Cytogenet Cell Genet (1987) 1.68
Assignment of the gene coding for phosphoribosylglycineamide formyltransferase to human chromosome 14. Somatic Cell Genet (1981) 1.67
Inhibition of lung cancer cell growth and induction of apoptosis after reexpression of 3p21.3 candidate tumor suppressor gene SEMA3B. Proc Natl Acad Sci U S A (2001) 1.67
Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions. Nat Genet (1997) 1.65
Stressful life events and social rhythm disruption in the onset of manic and depressive bipolar episodes: a preliminary investigation. Arch Gen Psychiatry (1998) 1.59
Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology (1993) 1.53
Involvement of the AML1 gene in the t(3;21) in therapy-related leukemia and in chronic myeloid leukemia in blast crisis. Blood (1993) 1.44
Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13. Proc Natl Acad Sci U S A (1995) 1.44
Cyclosporin use in the precolectomy chronic ulcerative colitis patient: a community experience and its relationship to prospective and controlled clinical trials. Pacific Northwest Gastroenterology Society. Am J Gastroenterol (1995) 1.43
Isolation of a yeast artificial chromosome spanning the 8;21 translocation breakpoint t(8;21)(q22;q22.3) in acute myelogenous leukemia. Proc Natl Acad Sci U S A (1991) 1.42
Distinct 3p21.3 deletions in lung cancer and identification of a new human semaphorin. Oncogene (1996) 1.42
Comparison of human immunodeficiency virus 1 DNA polymerase chain reaction and qualitative and quantitative RNA polymerase chain reaction in human immunodeficiency virus 1-exposed infants. Pediatr Infect Dis J (1999) 1.42
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet (1992) 1.41
5-Amino-4-imidazolecarboxamide riboside (Z-riboside) metabolism in eukaryotic cells. J Biol Chem (1985) 1.40
Interaction of ribosomes and the cell envelope of Escherichia coli mediated by lysozyme. J Bacteriol (1970) 1.40
Nail gun injuries in residential carpentry: lessons from active injury surveillance. Inj Prev (2003) 1.38
Dinucleotide repeat polymorphism at the D6S105 locus. Nucleic Acids Res (1991) 1.38
Isolation and analysis of the 21q+ chromosome in the acute myelogenous leukemia 8;21 translocation: evidence that c-mos is not translocated. Proc Natl Acad Sci U S A (1985) 1.36
Demonstration, by somatic cell genetics, of coordinate regulation of genes for two enzymes of purine synthesis assigned to human chromosome 21. Proc Natl Acad Sci U S A (1981) 1.34
Dinucleotide repeat polymorphism at the D12S43 locus. Nucleic Acids Res (1990) 1.33
Genetics of somatic mammalian cells: biochemical genetics of Chinese hamster cell mutants with deviant purine metabolism. Proc Natl Acad Sci U S A (1974) 1.33
Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci. Nucleic Acids Res (1990) 1.32
Multiple purine pathway enzyme activities are encoded at a single genetic locus in Drosophila. Proc Natl Acad Sci U S A (1986) 1.30
Human chromosome 21-encoded cDNA clones. Gene (1986) 1.29
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum Mol Genet (1994) 1.27
Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody. Hum Genet (1986) 1.26
Biochemical genetic analysis of pyrimidine biosynthesis in mammalian cells: I. Isolation of a mutant defective in the early steps of de novo pyrimidine synthesis. Somatic Cell Genet (1977) 1.26
Confirmation of assignment of the human alpha 1-crystallin gene (CRYA1) to chromosome 21 with regional localization to q22.3. Hum Genet (1987) 1.25
Dinucleotide repeat polymorphisms at the D16S260, D16S261, D16S265, D16S266, and D16S267 loci. Nucleic Acids Res (1990) 1.22
Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes. EMBO J (1991) 1.19
Translocation of c-myc in the hereditary renal cell carcinoma associated with a t(3;8)(p14.2;q24.13) chromosomal translocation. Proc Natl Acad Sci U S A (1985) 1.19
Semaphorin SEMA3F localization in malignant human lung and cell lines: A suggested role in cell adhesion and cell migration. Am J Pathol (2000) 1.18
Cyclic stretching force selectively up-regulates transforming growth factor-beta isoforms in cultured rat mesangial cells. Am J Pathol (1996) 1.17
Cloning, sequencing, and mapping of the human chromosome 14 heat shock protein gene (HSPA2). Genomics (1994) 1.16
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes. Genome Res (1999) 1.16
Seveso Women's Health Study: a study of the effects of 2,3,7,8-tetrachlorodibenzo-p-dioxin on reproductive health. Chemosphere (2000) 1.15
A new RNA synthesis mutant of E. coli. Biochem Genet (1971) 1.14
Structural gene coding for multifunctional protein carrying orotate phosphoribosyltransferase and OMP decarboxylase activity is located on long arm of human chromosome 3. Somatic Cell Genet (1983) 1.12
Direct cloning of DNA sequences from the common fragile site region at chromosome band 3p14.2. Genomics (1996) 1.12
Domperidone in the management of symptoms of diabetic gastroparesis: efficacy, tolerability, and quality-of-life outcomes in a multicenter controlled trial. DOM-USA-5 Study Group. Clin Ther (1998) 1.11
Effect of nitrous oxide inactivation of vitamin B12-dependent methionine synthetase on the subcellular distribution of folate coenzymes in rat liver. Arch Biochem Biophys (1989) 1.11
Physical mapping of chromosome 21 DNA markers in Alzheimer's disease region using somatic cell hybrids. Somat Cell Mol Genet (1990) 1.10
Alteration in structure of multifunctional protein from Chinese hamster ovary cells defective in pyrimidine biosynthesis. Proc Natl Acad Sci U S A (1979) 1.10
Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics (1990) 1.08
Isolation of DNA sequences on human chromosome 21 by application of a recombination-based assay to DNA from flow-sorted chromosomes. Hum Genet (1988) 1.08
Possible compensatory events in adult Down syndrome brain prior to the development of Alzheimer disease neuropathology: targets for nonpharmacological intervention. J Alzheimers Dis (2007) 1.08
Effect of elevated temperatures on protein synthesis in Escherichia coli. J Bacteriol (1972) 1.07
Detection of fetal trisomies 21 and 18 from maternal blood using triple gradient and magnetic cell sorting. Am J Reprod Immunol (1994) 1.07
Illness experience and children's concepts of health and illness. Child Care Health Dev (1984) 1.06
The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am J Hum Genet (1996) 1.06
Distribution of semaphorin IV in adult human brain. Brain Res (1999) 1.04
The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome. Hum Mol Genet (1997) 1.04
Body burden levels of dioxin, furans, and PCBs among frequent consumers of Great Lakes sport fish. The Great Lakes Consortium. Environ Res (1999) 1.04
An FHIT tumor suppressor gene? Genes Chromosomes Cancer (1998) 1.04
Dinucleotide repeat polymorphisms at the D11S419 and CD3D loci. Nucleic Acids Res (1990) 1.04
"Harvey," the cardiology patient simulator: pilot studies on teaching effectiveness. Am J Cardiol (1980) 1.04