Published in Genomics on November 01, 1989
PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res (1997) 13.48
Antimicrobial agent resistance in mycobacteria: molecular genetic insights. Clin Microbiol Rev (1995) 7.55
The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. J Clin Invest (1998) 6.76
DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet (1991) 6.20
E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J (1995) 4.55
Direct, automated detection of rifampin-resistant Mycobacterium tuberculosis by polymerase chain reaction and single-strand conformation polymorphism analysis. Antimicrob Agents Chemother (1993) 4.54
Isolation of LUMINIDEPENDENS: a gene involved in the control of flowering time in Arabidopsis. Plant Cell (1994) 4.25
Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A (1995) 3.85
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The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci U S A (1990) 3.72
p53 mutations in human lymphoid malignancies: association with Burkitt lymphoma and chronic lymphocytic leukemia. Proc Natl Acad Sci U S A (1991) 3.69
Genetics of reproductive isolation in the Drosophila simulans clade: complex epistasis underlying hybrid male sterility. Genetics (1994) 3.68
A genetic linkage map for cattle. Genetics (1994) 3.64
Molecular markers reveal that population structure of the human pathogen Candida albicans exhibits both clonality and recombination. Proc Natl Acad Sci U S A (1996) 3.53
Two distinct mechanisms alter p53 in breast cancer: mutation and nuclear exclusion. Proc Natl Acad Sci U S A (1992) 3.27
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet (1996) 2.97
The ins and outs of DNA fingerprinting the infectious fungi. Clin Microbiol Rev (2000) 2.95
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A (1991) 2.83
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Association of attention-deficit disorder and the dopamine transporter gene. Am J Hum Genet (1995) 2.54
Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet (1991) 2.45
'Cold SSCP': a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses. Nucleic Acids Res (1993) 2.38
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Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet (1999) 2.26
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Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A (1998) 2.17
Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant. Nucleic Acids Res (1991) 2.06
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The broom of the sorcerer's apprentice: the fine structure of a chromosomal region causing reproductive isolation between two sibling species of Drosophila. Genetics (1996) 1.91
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Genetics of reproductive isolation in the Drosophila simulans clade: DNA marker-assisted mapping and characterization of a hybrid-male sterility gene, Odysseus (Ods). Genetics (1993) 1.88
Non-radioactive single strand conformation polymorphism (SSCP) using the Pharmacia 'PhastSystem'. Nucleic Acids Res (1991) 1.86
p53 nuclear protein accumulation correlates with mutations in the p53 gene, tumor grade, and stage in bladder cancer. Am J Pathol (1993) 1.85
Pancreatic adenocarcinomas frequently show p53 gene mutations. Am J Pathol (1993) 1.80
Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet (1994) 1.80
Pathogenesis of non-familial colorectal carcinomas with high microsatellite instability. J Clin Pathol (2000) 1.75
Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet (1993) 1.75
PCR and single-strand conformational polymorphism for recognition of medically important opportunistic fungi. J Clin Microbiol (1995) 1.73
Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. Am J Hum Genet (1993) 1.72
Detection of gyrA and gyrB mutations in quinolone-resistant clinical isolates of Escherichia coli by single-strand conformational polymorphism analysis and determination of levels of resistance conferred by two different single gyrA mutations. Antimicrob Agents Chemother (1995) 1.72
A three-nucleotide deletion in the UL97 open reading frame is responsible for the ganciclovir resistance of a human cytomegalovirus clinical isolate. J Virol (1995) 1.71
p53 gene mutations are common in uterine serous carcinoma and occur early in their pathogenesis. Am J Pathol (1997) 1.67
The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. Immunology (1999) 1.67
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci U S A (1993) 1.67
Constant denaturant gel electrophoresis as a rapid screening technique for p53 mutations. Proc Natl Acad Sci U S A (1991) 1.65
Naturally occurring mutations in the human 5-lipoxygenase gene promoter that modify transcription factor binding and reporter gene transcription. J Clin Invest (1997) 1.63
Alternative splicing of the Drosophila Dscam pre-mRNA is both temporally and spatially regulated. Genetics (2001) 1.62
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1993) 1.62
Interferon resistance of hepatitis C virus genotype 1b: relationship to nonstructural 5A gene quasispecies mutations. J Virol (1998) 1.59
Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Am J Hum Genet (1991) 1.58
Detection of clonal immunoglobulin gene rearrangements by polymerase chain reaction amplification and single-strand conformational polymorphism analysis. Am J Pathol (1993) 1.56
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet (1999) 1.56
X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am J Hum Genet (1998) 1.54
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. Proc Natl Acad Sci U S A (1992) 1.54
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A (1992) 1.54
Origins of host-specific populations of the blast pathogen Magnaporthe oryzae in crop domestication with subsequent expansion of pandemic clones on rice and weeds of rice. Genetics (2005) 1.54
The fission yeast ferric reductase gene frp1+ is required for ferric iron uptake and encodes a protein that is homologous to the gp91-phox subunit of the human NADPH phagocyte oxidoreductase. Mol Cell Biol (1993) 1.53
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet (1991) 1.53
Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet (1995) 1.51
Protocols for an improved detection of point mutations by SSCP. Nucleic Acids Res (1991) 1.50
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet (1997) 1.48
Molecular phylogenetics of subtribe Aeridinae (Orchidaceae): insights from plastid matK and nuclear ribosomal ITS sequences. J Plant Res (2005) 1.48
Rapid identification of bacteria from positive blood cultures by fluorescence-based PCR-single-strand conformation polymorphism analysis of the 16S rRNA gene. J Clin Microbiol (2000) 1.47
Contrasting patterns of nucleotide sequence variation at the glucose dehydrogenase (Gld) locus in different populations of Drosophila melanogaster. Genetics (1997) 1.44
Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria. Nucleic Acids Res (1991) 1.44
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet (1995) 1.44
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Am J Hum Genet (1991) 1.44
Phylogenetic assessment of length variation at a microsatellite locus. Proc Natl Acad Sci U S A (1997) 1.43
Allelic variants of the human putative peptide transporter involved in antigen processing. Proc Natl Acad Sci U S A (1992) 1.43
Nonrandom distribution of hepatitis C virus quasispecies in plasma and peripheral blood mononuclear cell subsets. J Virol (1999) 1.42
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet (1991) 1.41
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am J Hum Genet (1992) 1.41
Rapid identification of bacteria by PCR-single-strand conformation polymorphism. J Clin Microbiol (1994) 1.41
The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A (1996) 1.41
Canavan disease: mutations among Jewish and non-Jewish patients. Am J Hum Genet (1994) 1.40
DNA sequence variation and the recombinational landscape in Drosophila pseudoobscura: a study of the second chromosome. Genetics (1999) 1.40
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest (1998) 1.40
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. J Clin Invest (1993) 1.39
A bacterial artificial chromosome-based genetic linkage map of the nematode Pristionchus pacificus. Genetics (2002) 1.39
Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am J Hum Genet (2001) 1.39
Molecular identification of bacteria by fluorescence-based PCR-single-strand conformation polymorphism analysis of the 16S rRNA gene. J Clin Microbiol (1995) 1.38
Molecular genetics of steroid 5 alpha-reductase 2 deficiency. J Clin Invest (1992) 1.36
Changes in both gp120 and gp41 can account for increased growth potential and expanded host range of human immunodeficiency virus type 1. J Virol (1992) 1.35
Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis. Am J Hum Genet (1991) 1.35
A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. Am J Hum Genet (1991) 1.34
Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies. Am J Hum Genet (1992) 1.34
Involvement of TSC genes and differential expression of other members of the mTOR signaling pathway in oral squamous cell carcinoma. BMC Cancer (2008) 1.32
Genetic diversity among Borrelia strains determined by single-strand conformation polymorphism analysis of the ospC gene and its association with invasiveness. J Clin Microbiol (2003) 1.31
Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am J Hum Genet (1995) 1.30
Molecular mechanisms of isoniazid resistance in Mycobacterium tuberculosis and Mycobacterium bovis. Infect Immun (1995) 1.30
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. Am J Hum Genet (1992) 1.30
Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucleic Acids Res (1990) 1.29
par-2, a gene required for blastomere asymmetry in Caenorhabditis elegans, encodes zinc-finger and ATP-binding motifs. Proc Natl Acad Sci U S A (1994) 1.29
Analysis of T cell receptor-gamma gene rearrangements by denaturing gradient gel electrophoresis of GC-clamped polymerase chain reaction products. Correlation with tumor-specific sequences. Am J Pathol (1995) 1.29
Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors. Proc Natl Acad Sci U S A (1994) 1.29
Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet (1994) 1.29
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet (1997) 1.29
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci U S A (1989) 18.26
Transverse uterine fundal incision for placenta praevia with accreta, involving the entire anterior uterine wall: a case series. BJOG (2013) 7.10
A precise and fast temperature mapping using water proton chemical shift. Magn Reson Med (1995) 5.73
Comparison of complete amino acid sequences and receptor-binding properties among 13 serotypes of hemagglutinins of influenza A viruses. Virology (1991) 4.85
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Chloramphenicol-, dihydrostreptomycin-, and kanamycin-inactivating enzymes from multiple drug-resistant Escherichia coli carrying episome 'R'. Nature (1965) 4.53
An SV40-immortalized human corneal epithelial cell line and its characterization. Invest Ophthalmol Vis Sci (1995) 4.19
Behçet disease (Behçet syndrome). Semin Arthritis Rheum (1979) 3.88
Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A (1995) 3.85
Large voltage-induced magnetic anisotropy change in a few atomic layers of iron. Nat Nanotechnol (2009) 3.75
Detection of ras gene mutations in human lung cancers by single-strand conformation polymorphism analysis of polymerase chain reaction products. Oncogene (1990) 3.65
The DNA sequence of Bombyx mori fibroin gene including the 5' flanking, mRNA coding, entire intervening and fibroin protein coding regions. Cell (1979) 3.60
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Success and virulence in Toxoplasma as the result of sexual recombination between two distinct ancestries. Science (2001) 3.21
Structural analysis of the fibroin gene at the 5' end and its surrounding regions. Cell (1979) 3.16
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A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science (1992) 2.63
A rho-dependent termination site in the gene coding for tyrosine tRNA su3 of Escherichia coli. Nature (1978) 2.58
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