Published in Genome Res on October 01, 1995
Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet (2003) 2.51
Association mapping of disease loci, by use of a pooled DNA genomic screen. Am J Hum Genet (1997) 2.07
Loss of heterozygosity analysis using whole genome amplification, cell sorting, and fluorescence-based PCR. Genome Res (1999) 1.90
A universal method for automated gene mapping. Genome Biol (2005) 1.50
The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis. Genome Res (2003) 1.44
High-precision genotyping by denaturing capillary electrophoresis. Genome Res (1998) 1.07
Strategies for genotyping: Effectiveness of tailing primers to increase accuracy in short tandem repeat determinations. J Biomol Tech (2002) 0.93
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Hum Genet (2009) 0.93
A novel method for automatic genotyping of microsatellite markers based on parametric pattern recognition. Hum Genet (2003) 0.80
Novel algorithm for automated genotyping of microsatellites. Nucleic Acids Res (2004) 0.79
Morphological and genetic characterization of an emerging Azorean horse breed: the Terceira Pony. Front Genet (2015) 0.77
Development of a cost-effective high-throughput process of microsatellite analysis involving miniaturized multiplexed PCR amplification and automated allele identification. Hum Genomics (2013) 0.77
Mutant Thermotoga neapolitana DNA polymerase I: altered catalytic properties for non-templated nucleotide addition and incorporation of correct nucleotides. Nucleic Acids Res (2002) 0.75
Evaluation of Fluorescent Capillary Electrophoresis for Rapid Identification of Candida Fungal Infections. J Clin Microbiol (2016) 0.75
Differentiating microbial forensic qPCR target and control products by electrospray ionization mass spectrometry. Biosecur Bioterror (2013) 0.75
WAF1, a potential mediator of p53 tumor suppression. Cell (1993) 38.72
Functional annotation of a full-length mouse cDNA collection. Nature (2001) 23.61
The transcriptional program in the response of human fibroblasts to serum. Science (1999) 19.19
Use of a cDNA microarray to analyse gene expression patterns in human cancer. Nat Genet (1996) 15.73
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science (1995) 15.20
Structure of a cannabinoid receptor and functional expression of the cloned cDNA. Nature (1990) 13.60
Expression profiling using cDNA microarrays. Nat Genet (1999) 11.58
Embryonic lethality and liver degeneration in mice lacking the RelA component of NF-kappa B. Nature (1995) 10.36
Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucleic Acids Res (1991) 9.56
Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping. Biotechniques (1996) 8.92
MyD88 is an adaptor protein in the hToll/IL-1 receptor family signaling pathways. Mol Cell (1998) 8.73
Data management and analysis for gene expression arrays. Nat Genet (1998) 8.60
AIB1, a steroid receptor coactivator amplified in breast and ovarian cancer. Science (1997) 8.05
Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science (1997) 7.95
Vascular channel formation by human melanoma cells in vivo and in vitro: vasculogenic mimicry. Am J Pathol (1999) 7.66
Inhibition of NF-kappa B by sodium salicylate and aspirin. Science (1994) 7.60
Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method. Proc Natl Acad Sci U S A (1984) 7.38
The mammalian gene collection. Science (1999) 7.19
Phosphorylation of NF-kappa B p65 by PKA stimulates transcriptional activity by promoting a novel bivalent interaction with the coactivator CBP/p300. Mol Cell (1998) 7.03
DNA binding and I kappa B inhibition of the cloned p65 subunit of NF-kappa B, a rel-related polypeptide. Cell (1991) 6.63
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
A linkage between DNA markers on the X chromosome and male sexual orientation. Science (1993) 5.82
NF-kappaB and the immune response. Oncogene (2006) 5.62
Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet (1997) 5.58
The molecular genetics of human hemoglobin. Prog Nucleic Acid Res Mol Biol (1984) 5.50
Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science (1996) 5.06
The transcriptional activity of NF-kappaB is regulated by the IkappaB-associated PKAc subunit through a cyclic AMP-independent mechanism. Cell (1997) 4.99
Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nat Genet (1999) 4.79
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A (1990) 4.74
Gene expression profiling of alveolar rhabdomyosarcoma with cDNA microarrays. Cancer Res (1998) 4.68
NICE guidance on CardioQ(TM) oesophageal Doppler monitoring. Anaesthesia (2011) 4.63
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med (1990) 4.60
Mapping of the inducible IkappaB phosphorylation sites that signal its ubiquitination and degradation. Mol Cell Biol (1996) 4.56
Signal transduction through NF-kappa B. Immunol Today (1998) 4.54
Human prostate cancer and benign prostatic hyperplasia: molecular dissection by gene expression profiling. Cancer Res (2001) 4.51
The ubiquitin pathway in Parkinson's disease. Nature (1998) 4.48
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature (1992) 4.42
Direct sequencing of enzymatically amplified human genomic DNA. Proc Natl Acad Sci U S A (1988) 4.41
TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1. Cell (1995) 4.34
Genetic analysis of autoimmune type 1 diabetes mellitus in mice. Nature (1991) 4.27
Identification of an amplified, highly expressed gene in a human glioma. Science (1987) 4.21
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet (1996) 4.19
KiSS-1, a novel human malignant melanoma metastasis-suppressor gene. J Natl Cancer Inst (1996) 4.16
Genetic discrimination and health insurance: an urgent need for reform. Science (1995) 4.08
Selective inhibition of NF-kappaB activation by a peptide that blocks the interaction of NEMO with the IkappaB kinase complex. Science (2000) 4.04
Mapping genes for NIDDM. Design of the Finland-United States Investigation of NIDDM Genetics (FUSION) Study. Diabetes Care (1998) 3.99
I kappa B-beta regulates the persistent response in a biphasic activation of NF-kappa B. Cell (1995) 3.95
Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science (1993) 3.88
Construction of a general human chromosome jumping library, with application to cystic fibrosis. Science (1987) 3.87
Characterization of the CHD family of proteins. Proc Natl Acad Sci U S A (1997) 3.76
Rel-associated pp40: an inhibitor of the rel family of transcription factors. Science (1991) 3.76
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell (1990) 3.70
Structure of NF-kappa B p50 homodimer bound to a kappa B site. Nature (1995) 3.59
Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human gamma and epsilon globin genes. Mol Cell Biol (1992) 3.57
Independent modes of transcriptional activation by the p50 and p65 subunits of NF-kappa B. Genes Dev (1992) 3.47
High-resolution manometry predicts the success of oesophageal bolus transport and identifies clinically important abnormalities not detected by conventional manometry. Neurogastroenterol Motil (2004) 3.44
Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci U S A (1998) 3.35
A de novo Alu insertion results in neurofibromatosis type 1. Nature (1991) 3.29
Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies. Nat Genet (2001) 3.20
Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell (1999) 3.16
Concern Randomised controlled trial of cardioprotective diet in patients with recent acute myocardial infarction: results of one year follow up. BMJ (1992) 3.14
Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes. Science (1991) 3.12
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet (2002) 3.07
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet (1995) 3.05
Markers for mapping by admixture linkage disequilibrium in African American and Hispanic populations. Am J Hum Genet (2001) 3.04
Toll-like receptor-mediated NF-kappaB activation: a phylogenetically conserved paradigm in innate immunity. J Clin Invest (2001) 3.04
Quantitative quality control in microarray image processing and data acquisition. Nucleic Acids Res (2001) 2.91
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Oncogene (2007) 2.83
cDNA microarrays detect activation of a myogenic transcription program by the PAX3-FKHR fusion oncogene. Proc Natl Acad Sci U S A (1999) 2.77
Increased capsaicin receptor TRPV1-expressing sensory fibres in irritable bowel syndrome and their correlation with abdominal pain. Gut (2008) 2.77
Metabolic defects in lean nondiabetic offspring of NIDDM parents: a cross-sectional study. Diabetes (1997) 2.76
Review article: dermatological complications of immunosuppressive and anti-TNF therapy in inflammatory bowel disease. Aliment Pharmacol Ther (2013) 2.74
Characteristics of prostate cancer in families potentially linked to the hereditary prostate cancer 1 (HPC1) locus. JAMA (1997) 2.73
Positional cloning: let's not call it reverse anymore. Nat Genet (1992) 2.69
Strategies for mapping and cloning macroregions of mammalian genomes. Methods Enzymol (1987) 2.68
Human apolipoprotein D gene: gene sequence, chromosome localization, and homology to the alpha 2u-globulin superfamily. DNA (1987) 2.67
Synthesis, transport, and release of posterior pituitary hormones. Science (1980) 2.65
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. Nucleic Acids Res (1990) 2.62
Utility of adiponectin as a biomarker predictive of glycemic efficacy is demonstrated by collaborative pooling of data from clinical trials conducted by multiple sponsors. Clin Pharmacol Ther (2009) 2.60
Direct demonstration of P-selectin- and VCAM-1-dependent mononuclear cell rolling in early atherosclerotic lesions of apolipoprotein E-deficient mice. Circ Res (1999) 2.60
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet (1999) 2.60
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Natl Acad Sci U S A (2001) 2.57
NF-kappa B and rel proteins in innate immunity. Adv Immunol (1995) 2.53
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci U S A (1999) 2.53
Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. JAMA (1993) 2.51
Comparative properties of five human ovarian adenocarcinoma cell lines. Cancer Res (1985) 2.50
The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. Am J Hum Genet (2000) 2.50
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet (1995) 2.42
Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci U S A (1998) 2.39
Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus. Nature (1992) 2.37
Cloning a novel member of the human interferon-inducible gene family associated with control of tumorigenicity in a model of human melanoma. Oncogene (1997) 2.35
A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. Nature (1985) 2.33