Published in N Engl J Med on September 01, 1988
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The production of PCR products with 5' single-stranded tails using primers that incorporate novel phosphoramidite intermediates. Nucleic Acids Res (1993) 0.88
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CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. J Med Genet (1993) 0.82
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The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis. Am J Hum Genet (1990) 0.79
A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia. Am J Hum Genet (1989) 0.79
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Successful implantation and live birth of a healthy boy after triple biopsy and double vitrification of oocyte-embryo-blastocyst. Springerplus (2015) 0.77
A droplet microfluidic approach to single-stream nucleic acid isolation and mutation detection. Microfluid Nanofluidics (2014) 0.76
Lewandowsky's Rosaceiform Eruption: a Form of Cutaneous Tuberculosis Confirmed by PCR in Two Patients. Dermatol Ther (Heidelb) (2014) 0.75
Rapid determination of fetal sex using amniotic fluid cells and the polymerase chain reaction. Arch Gynecol Obstet (1992) 0.75
Defining DNA diagnostic tests appropriate or standard clinical care. Am J Hum Genet (1990) 0.75
Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA. J Med Genet (1990) 0.75
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science (1988) 220.77
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science (1985) 95.08
Direct cloning and sequence analysis of enzymatically amplified genomic sequences. Science (1986) 19.54
Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci U S A (1988) 18.72
Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature (1986) 17.77
Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature (1988) 10.84
Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. Nucleic Acids Res (1987) 10.38
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature (1982) 9.47
DNA typing from single hairs. Nature (1988) 9.32
Phenotypic expression in E. coli of a DNA sequence coding for mouse dihydrofolate reductase. Nature (1978) 8.76
High frequency retrotransposition in cultured mammalian cells. Cell (1996) 8.60
Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature (1987) 8.58
Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell (1996) 8.21
Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97
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Biology of mammalian L1 retrotransposons. Annu Rev Genet (2001) 6.52
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Many human L1 elements are capable of retrotransposition. Nat Genet (1997) 6.27
Reverse transcriptase encoded by a human transposable element. Science (1991) 5.86
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A (1982) 5.85
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA. Annu Rev Genet (1984) 5.74
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature (1990) 5.42
Human L1 retrotransposition: cis preference versus trans complementation. Mol Cell Biol (2001) 5.23
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Exon shuffling by L1 retrotransposition. Science (1999) 4.99
Allelic sequence variation of the HLA-DQ loci: relationship to serology and to insulin-dependent diabetes susceptibility. Proc Natl Acad Sci U S A (1988) 4.19
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet (1993) 4.12
Analysis of DNA extracted from formalin-fixed, paraffin-embedded tissues by enzymatic amplification and hybridization with sequence-specific oligonucleotides. Biochem Biophys Res Commun (1987) 4.05
Isolation of an active human transposable element. Science (1991) 3.99
The polymerase chain reaction. Trends Genet (1989) 3.95
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nat Genet (1995) 3.74
Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease. JAMA (1989) 3.65
Nomenclature for the major histocompatibility complexes of different species: a proposal. Immunogenetics (1990) 3.53
Western Blot analysis of the antigens of Toxoplasma gondii recognized by human IgM and IgG antibodies. J Immunol (1983) 3.53
Lack of association between early exposure to cow's milk protein and beta-cell autoimmunity. Diabetes Autoimmunity Study in the Young (DAISY) JAMA (1996) 3.52
Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl Acad Sci U S A (1989) 3.50
Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. N Engl J Med (1987) 3.44
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood (2000) 3.36
A sensitive radioimmunoassay for detecting products translated from cloned DNA fragments. Cell (1978) 3.30
Limited heterogeneity of rearranged T-cell receptor V alpha transcripts in brains of multiple sclerosis patients. Nature (1990) 3.30
Newborn screening for HLA markers associated with IDDM: diabetes autoimmunity study in the young (DAISY). Diabetologia (1996) 3.23
Nomenclature for factors of the HLA system, 2010. Tissue Antigens (2010) 3.22
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet (1998) 3.00
Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes. Proc Natl Acad Sci U S A (1988) 2.99
The role of HLA class II genes in insulin-dependent diabetes mellitus: molecular analysis of 180 Caucasian, multiplex families. Am J Hum Genet (1996) 2.90
Determination of L1 retrotransposition kinetics in cultured cells. Nucleic Acids Res (2000) 2.84
HLA class II allelic variation and susceptibility to pemphigus vulgaris. Proc Natl Acad Sci U S A (1988) 2.72
Molecular basis and prenatal diagnosis of beta-thalassemia. Blood (1988) 2.70
A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Nat Genet (1994) 2.68
High-resolution, high-throughput HLA genotyping by next-generation sequencing. Tissue Antigens (2009) 2.64
Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis. N Engl J Med (1982) 2.64
Single-base mutational analysis of cancer and genetic diseases using membrane bound modified oligonucleotides. Nucleic Acids Res (1991) 2.59
A novel dipyridodiazepinone inhibitor of HIV-1 reverse transcriptase acts through a nonsubstrate binding site. Biochemistry (1991) 2.57
Transduction of 3'-flanking sequences is common in L1 retrotransposition. Hum Mol Genet (2000) 2.57
Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes. Am J Hum Genet (1991) 2.56
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature (1987) 2.49
Preferential PCR amplification of alleles: mechanisms and solutions. PCR Methods Appl (1992) 2.47
Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. Nature (1975) 2.45
Polymorphism, recombination, and linkage disequilibrium within the HLA class II region. J Immunol (1992) 2.39
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med (1990) 2.37
Branched DNA amplification multimers for the sensitive, direct detection of human hepatitis viruses. Nucleic Acids Symp Ser (1991) 2.34
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24
A novel active L1 retrotransposon subfamily in the mouse. Genome Res (2001) 2.21
Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans. Nature (1984) 2.18
Structure, sequence and polymorphism in the HLA-D region. Immunol Rev (1985) 2.16
Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells. Hum Mol Genet (1999) 2.15
Twin priming: a proposed mechanism for the creation of inversions in L1 retrotransposition. Genome Res (2001) 2.14
A multilocus genotyping assay for candidate markers of cardiovascular disease risk. Genome Res (1999) 2.13
DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet (1985) 2.09
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. N Engl J Med (1983) 2.06
Molecular characterization of seven beta-thalassemia mutations in Asian Indians. EMBO J (1984) 2.04
Selection for T-cell receptor V beta-D beta-J beta gene rearrangements with specificity for a myelin basic protein peptide in brain lesions of multiple sclerosis. Nature (1993) 2.01
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An actively retrotransposing, novel subfamily of mouse L1 elements. EMBO J (1998) 1.99
Switch from monoallelic to biallelic human IGF2 promoter methylation during aging and carcinogenesis. Proc Natl Acad Sci U S A (1996) 1.99
Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature (1982) 1.98
Nomenclature for factors of the HLA system, 1990. Tissue Antigens (1991) 1.98
Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis. J Clin Invest (1983) 1.95
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am J Hum Genet (1988) 1.93
beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci U S A (1984) 1.92
Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. N Engl J Med (1985) 1.91
Characterization of the binding site for nevirapine (BI-RG-587), a nonnucleoside inhibitor of human immunodeficiency virus type-1 reverse transcriptase. J Biol Chem (1991) 1.90
Nomenclature for factors of the HLA system, 2002. Tissue Antigens (2002) 1.89
Recent origin of HLA-DRB1 alleles and implications for human evolution. Nat Genet (1998) 1.89
Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1. Am J Med Genet (1994) 1.86
Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene. Am J Hum Genet (1989) 1.81
beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site. Proc Natl Acad Sci U S A (1984) 1.81
A multi-site study using high-resolution HLA genotyping by next generation sequencing. Tissue Antigens (2011) 1.81
Mobile elements and the human genome. Nat Rev Genet (2000) 1.79