Haplotype analysis to determine the position of a mutation among closely linked DNA markers.

PubWeight™: 1.11‹?› | Rank: Top 10%

🔗 View Article (PMID 8364537)

Published in Hum Mol Genet on July 01, 1993

Authors

M Ramsay1, R Williamson, X Estivill, B J Wainwright, M F Ho, S Halford, J Kere, E Savilahti, A de la Chapelle, M Schwartz

Author Affiliations

1: Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, UK.

Articles by these authors

The UCSC Genome Browser Database. Nucleic Acids Res (2003) 32.84

'Touchdown' PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res (1991) 19.71

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet (1992) 15.62

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35

Regulation of tumor antigen synthesis by simain virus 40 gene A. J Virol (1975) 9.93

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res (1983) 8.92

Positive control of transcription initiation in bacteria. Annu Rev Genet (1984) 8.74

Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature (1987) 7.88

Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature (1985) 7.77

Isolation of the bacteriophage lambda receptor from Escherichia coli. J Bacteriol (1973) 7.67

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med (1996) 7.66

Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73

Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell (1993) 6.61

Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature (1981) 6.18

Location of the maltose A and B loci on the genetic map of Escherichia coli. J Bacteriol (1966) 5.97

Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet (2000) 5.65

Lack of effect of induction of hypothermia after acute brain injury. N Engl J Med (2001) 5.48

Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance. Cell (1978) 5.30

An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30

Inducible, transferable resistance to vancomycin in Enterococcus faecalis A256. Antimicrob Agents Chemother (1989) 5.28

Maltose transport in Escherichia coli K12. A comparison of transport kinetics in wild-type and lambda-resistant mutants as measured by fluorescence quenching. Eur J Biochem (1976) 5.25

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet (1998) 5.24

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell (1994) 5.21

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet (1992) 5.12

A role for mRNA secondary structure in the control of translation initiation. Nature (1982) 5.01

Microsatellite diversity and the demographic history of modern humans. Proc Natl Acad Sci U S A (1997) 4.96

Simple non-invasive method to obtain DNA for gene analysis. Lancet (1988) 4.96

The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nat Genet (1994) 4.94

Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med (1996) 4.87

Progress towards construction of a total restriction fragment map of a human chromosome. Nucleic Acids Res (1987) 4.68

High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet (2000) 4.63

Cross-resistance to nalidixic acid, trimethoprim, and chloramphenicol associated with alterations in outer membrane proteins of Klebsiella, Enterobacter, and Serratia. J Infect Dis (1985) 4.52

The sex-determining region of the human Y chromosome encodes a finger protein. Cell (1987) 4.43

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet (1997) 4.27

Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A (1984) 4.22

Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet (1999) 4.16

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet (1992) 4.07

Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet (1995) 4.01

Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol (2000) 3.98

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90

Use of gene fusions to study outer membrane protein localization in Escherichia coli. Proc Natl Acad Sci U S A (1977) 3.78

The adsorption of coliphage lambda to its host: effect of variations in the surface density of receptor and in phage-receptor affinity. J Mol Biol (1976) 3.75

Direct selection: a method for the isolation of cDNAs encoded by large genomic regions. Proc Natl Acad Sci U S A (1991) 3.66

Dissemination of the novel plasmid-mediated beta-lactamase CTX-1, which confers resistance to broad-spectrum cephalosporins, and its inhibition by beta-lactamase inhibitors. Antimicrob Agents Chemother (1988) 3.57

Genetic analysis of the maltose A region in Escherichia coli. J Bacteriol (1969) 3.52

Escherichia coli mutants impaired in maltodextrin transport. J Bacteriol (1979) 3.51

Dominant constitutive mutations in malT, the positive regulator gene of the maltose regulon in Escherichia coli. J Mol Biol (1978) 3.46

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet (1997) 3.39

Severity of cystic fibrosis in patients homozygous and heterozygous for delta F508 mutation. Lancet (1991) 3.37

[Existence in Escherichia coli K 12 of a common regulation of the biosynthesis of bacteriophage receptors and maltose metabolism]. Ann Inst Pasteur (Paris) (1967) 3.33

Pleiotropic mutations rendering Escherichia coli K-12 resistant to bacteriophage TP1. J Bacteriol (1980) 3.31

Conversion of diploidy to haploidy. Nature (2000) 3.28

Tissue transglutaminase autoantibody enzyme-linked immunosorbent assay in detecting celiac disease. Gastroenterology (1998) 3.22

IgA antigliadin antibodies: a marker of mucosal damage in childhood coeliac disease. Lancet (1983) 3.17

Autoimmune T cells protect neurons from secondary degeneration after central nervous system axotomy. Nat Med (1999) 3.13

Plasmid-mediated beta-lactamase (TEM-7) involved in resistance to ceftazidime and aztreonam. Rev Infect Dis (1988) 3.12

Psychological and social consequences of community carrier screening programme for cystic fibrosis. Lancet (1992) 3.06

The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion. Nature (1974) 3.04

A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet (1981) 3.04

A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03

Coronary artery bypass grafting: the Society of Thoracic Surgeons National Database experience. Ann Thorac Surg (1994) 3.00

The balance between privacy, safety and community health. J Paediatr Child Health (2003) 3.00

Structure of the malB region in Escherichia coli K12. I. Genetic map of the malK-lamB operon. Mol Gen Genet (1979) 2.99

Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny. Clin Genet (1985) 2.96

Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature (1988) 2.96

DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. Hum Mol Genet (2000) 2.93

Effect of long term consumption of probiotic milk on infections in children attending day care centres: double blind, randomised trial. BMJ (2001) 2.91

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell (1995) 2.89

Use of penicillin-binding proteins for the identification of enterococci. J Gen Microbiol (1986) 2.87

A bovine albumin peptide as a possible trigger of insulin-dependent diabetes mellitus. N Engl J Med (1992) 2.86

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell (2001) 2.86

Screening for carriers of cystic fibrosis through primary health care services. BMJ (1991) 2.84

The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers. Hum Genet (1984) 2.84

[Phenotypic expression and genetic localization of mutations affecting maltose metabolism in Escherichia coli K 12]. Ann Inst Pasteur (Paris) (1967) 2.83

Structure of the malB region in Escherichia coli K12. II. Genetic map of the malE,F,G operon. Mol Gen Genet (1979) 2.83

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics (1991) 2.80

Serological markers and HLA genes among healthy first-degree relatives of patients with coeliac disease. Lancet (1991) 2.76

One or two low affinity penicillin-binding proteins may be responsible for the range of susceptibility of Enterococcus faecium to benzylpenicillin. J Gen Microbiol (1985) 2.73

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science (1996) 2.73

Loss-of-function mutations in PPAR gamma associated with human colon cancer. Mol Cell (1999) 2.71

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet (2001) 2.70

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet (1992) 2.70

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70

Complementation studies in the maltose-A region of the Escherichia coli K12 genetic map. J Mol Biol (1971) 2.60

Targeted disruption of the Wnt2 gene results in placentation defects. Development (1996) 2.59

Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet (1984) 2.58

Temperature-sensitive mutations in Drosophila melanogaster. VII. A mutation (para-ts) causing reversible adult paralysis. Proc Natl Acad Sci U S A (1971) 2.57

Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell (1999) 2.57

Properties of rapidly labelled deoxyribonucleic acid fragments isolated from the cytoplasm of primary cultures of embryonic mouse liver cells. J Mol Biol (1970) 2.56

malB region in Escherichia coli K-12: characterization of new mutations. J Bacteriol (1974) 2.56

CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet (2001) 2.51