Search Results - "JEFFREYS, A. J"
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High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot
Published in Human molecular genetics (22-03-2000)“…Little is known about the nature of recombination hotspots in the human genome and the relationship between crossover activity and patterns of linkage…”
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2
Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
Published in Nature genetics (01-10-2001)“…There is considerable interest in understanding patterns of linkage disequilibrium (LD) in the human genome, to aid investigations of human evolution and…”
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3
Minisatellite instability and germline mutation
Published in Cellular and molecular life sciences : CMLS (01-09-1999)“…Tandem-repeat DNA actively turns over in the genome by a variety of poorly understood dynamic mechanisms. Minisatellites, a class of tandem repeats, have been…”
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4
Meiotic Recombination and Flanking Marker Exchange at the Highly Unstable Human Minisatellite CEB1 ( D2S90)
Published in American journal of human genetics (01-08-2000)“…Unequal crossover has long been suspected to play a role in the germline-specific instability of tandem-repeat DNA, but little information exists on the…”
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Complex gene conversion events in germline mutation at human minisatellites
Published in Nature genetics (01-02-1994)“…Mutation at the human minisatellites MS32, MS205 and MS31A has been investigated by characterizing mutant alleles in pedigrees and in the case of MS32 by…”
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Uniparental paternal disomy in Angelman's syndrome
Published in The Lancet (British edition) (23-03-1991)“…Angelman's syndrome and Prader-Willi syndrome are both causes of mental retardation with recognisable, but quite different, clinical phenotypes. Both are…”
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Isolation of human simple repeat loci by hybridization selection
Published in Human molecular genetics (01-04-1994)“…We have isolated short tandem repeat arrays from the human genome, using a rapid method involving filter hybridization to enrich for tri- or tetranucleotide…”
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Individual-specific 'fingerprints' of human DNA
Published in Nature (London) (01-01-1985)“…Simple tandem-repetitive regions of DNA (or 'minisatellites') which are dispersed in the human genome frequently show substantial length polymorphism arising…”
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Extremely Complex Repeat Shuffling during Germline Mutation at Human Minisatellite B6.7
Published in Human molecular genetics (01-05-1999)“…Human minisatellite B6.7 is a highly variable locus showing extensive heterozygosity with alleles ranging from six to >500 repeat units. Paternal and maternal…”
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10
Chromosome 5 allele loss in human colorectal carcinomas
Published in Nature (London) (13-08-1987)“…That the sporadic and inherited forms of a particular cancer could both result from mutations in the same gene was first proposed by Knudson. He further…”
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Somatic mutation processes at a human minisatellite
Published in Human molecular genetics (1997)“…Germline instability at human minisatellites frequently involves complex inter-allelic transfers of repeat units usually restricted to one end of the repeat…”
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Amplification of human minisatellites by the polymerase chain reaction: towards DNA fingerprinting of single cells
Published in Nucleic acids research (09-12-1988)“…Hypervariable minisatellites can be amplified from human DNA by the polymerase chain reaction, using primers from DNA flanking the minisatellite to amplify the…”
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13
Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination
Published in Human molecular genetics (01-05-2000)“…Segregation analysis of CEPH and other pedigrees yielded six paternal crossover breakpoints in the approximately 85 kb interval between the minisatellite loci…”
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14
Minisatellite repeat coding as a digital approach to DNA typing
Published in Nature (London) (21-11-1991)“…Most DNA typing systems used in forensic and legal medicine assay allelic length variation at tandem repetitive DNA regions such as minisatellites. A simple…”
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15
Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA
Published in Nature (London) (17-03-1988)“…Tandem-repetitive minisatellite regions in vertebrate DNA frequently show substantial allelic variation in the number of repeat units. This variation is…”
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16
Allele diversity and germline mutation at the insulin minisatellite
Published in Human molecular genetics (22-03-2000)“…Previous analysis of germline mutation at highly unstable GC-rich minisatellites with continuous allele size distributions revealed similar meiotic…”
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Minisatellite diversity supports a recent African origin for modern humans
Published in Nature genetics (01-06-1996)“…In a study of human diversity at a highly variable locus, we have mapped the internal structures of tandem-repetitive alleles from different populations at the…”
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18
Repeat instability at human minisatellites arising from meiotic recombination
Published in The EMBO journal (15-07-1998)“…Little is known about the role of meiotic recombination processes such as unequal crossover in driving instability at tandem repeat DNA. Methods have therefore…”
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19
DNA fingerprints of dogs and cats
Published in Animal genetics (01-02-1987)“…Human minisatellite probes consisting of tandem repeats of the 'core' sequence, a putative recombination signal in human DNA, cross-hybridize to multiple…”
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Hypervariable 'minisatellite' regions in human DNA
Published in Nature (London) (01-01-1985)“…The human genome contains many dispersed tandem-repetitive 'minisatellite' regions detected via a shared 10-15-base pair 'core' sequence similar to the…”
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