Published in Hum Genet on January 01, 1985
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Identification of deletions in the human low density lipoprotein receptor gene. J Med Genet (1987) 1.08
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Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature (1985) 7.77
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med (1996) 7.66
Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification. Nature (1989) 7.14
Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature (1981) 6.18
Some effects of oral contraceptives on carbohydrate metabolism. Lancet (1966) 5.48
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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet (1992) 5.12
Simple non-invasive method to obtain DNA for gene analysis. Lancet (1988) 4.96
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Progress towards construction of a total restriction fragment map of a human chromosome. Nucleic Acids Res (1987) 4.68
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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
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet (1996) 4.36
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A (1984) 4.22
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet (1992) 4.07
Cardiologists rebuked. Lancet (1994) 3.85
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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
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Errors in the polymerase chain reaction. Nucleic Acids Res (1988) 3.52
Potassium chloride and intestinal ulceration. Lancet (1965) 3.42
Prognostic implications of monosomy 3 in uveal melanoma. Lancet (1996) 3.26
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature (1993) 3.24
Plasmid-mediated beta-lactamase (TEM-7) involved in resistance to ceftazidime and aztreonam. Rev Infect Dis (1988) 3.12
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Psychological and social consequences of community carrier screening programme for cystic fibrosis. Lancet (1992) 3.06
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Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature (1988) 2.96
Use of penicillin-binding proteins for the identification of enterococci. J Gen Microbiol (1986) 2.87
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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
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics (1991) 2.80
Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma. Hum Genet (1989) 2.80
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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
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Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell (1999) 2.57
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Y chromosome sequence DNA amplified from peripheral blood of women in early pregnancy. Lancet (1994) 2.45
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. J Med Genet (1983) 2.45
Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J Cell Biol (1998) 2.44
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet (1992) 2.41
Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ (2000) 2.40
Electrophoresis for genotyping: microtiter array diagonal gel electrophoresis on horizontal polyacrylamide gels, hydrolink, or agarose. Anal Biochem (1994) 2.38
Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression. J Biol Chem (1996) 2.36
Dusty starburst galaxies in the early Universe as revealed by gravitational lensing. Nature (2013) 2.35
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet (1992) 2.35
Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. Nucleic Acids Res (1986) 2.34
Efficient and precise engineering of a 200 kb beta-globin human/bacterial artificial chromosome in E. coli DH10B using an inducible homologous recombination system. Gene Ther (1999) 2.32
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nat Genet (2000) 2.30
In vivo interaction of beta-lactam antibiotics with the penicillin-binding proteins of Streptococcus pneumoniae. Antimicrob Agents Chemother (1980) 2.29
Interleukin-6 (IL-6) and the prognosis of abdominal aortic aneurysms. Circulation (2001) 2.29
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet (1995) 2.29
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet (2000) 2.23
Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet (1990) 2.21
Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven. Nucleic Acids Res (1986) 2.16
Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications. Lancet (1985) 2.14
Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism. Lancet (1988) 2.13
Delta-beta-thalassemia is due to a gene deletion. Cell (1976) 2.12
Studies on the mechanism of intrinsic resistance to beta-lactam antibiotics in group D streptococci. J Gen Microbiol (1983) 2.10
Comparison of effects of different combined oral-contraceptive formulations on carbohydrate and lipid metabolism. Lancet (1979) 2.08
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet (2008) 2.05
Structure of the human fetal globin gene locus. Nature (1979) 2.02
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. Hum Mol Genet (1999) 2.02
Comparison of vancomycin-inducible proteins from four strains of Enterococci. FEMS Microbiol Lett (1990) 2.01
A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00
Predisposing locus for Alzheimer's disease on chromosome 21. Lancet (1989) 1.99
Insulin resistance and cigarette smoking. Lancet (1992) 1.98
Maternal methylation imprints on human chromosome 15 are established during or after fertilization. Nat Genet (2001) 1.97
Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP. Am J Hum Genet (1989) 1.97
Interleukin-6 gene -174g>c and -572g>c promoter polymorphisms are strong predictors of plasma interleukin-6 levels after coronary artery bypass surgery. Arterioscler Thromb Vasc Biol (2001) 1.96
Cuff failure--a complication of tracheal intubation. Anaesthesia (1991) 1.95
Blind nasal intubation is no longer necessary. Br J Anaesth (1990) 1.93
Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet (1999) 1.93
Increased incidence of neoplasia of the digestive tract in men with persistent activation of the coagulant pathway. J Thromb Haemost (2004) 1.91
Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet (1997) 1.91
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet (1997) 1.90
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
Inducible, transferable resistance to vancomycin in Enterococcus faecium, D399. J Antimicrob Chemother (1989) 1.87
Role of genetic variation at the fibrinogen locus in determination of plasma fibrinogen concentrations. Lancet (1987) 1.85
Normal values for peripheral blood white cell counts in women of four different ethnic origins. J Clin Pathol (1984) 1.84
Presence of an additional penicillin-binding protein in methicillin-resistant Staphylococcus epidermidis, Staphylococcus haemolyticus, Staphylococcus hominis, and Staphylococcus simulans with a low affinity for methicillin, cephalothin, and cefamandole. Antimicrob Agents Chemother (1990) 1.83
Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet (2000) 1.83
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Isolation and partial sequence of recombinant plasmids containing human alpha-, beta- and gamma-globin cDNA fragments. Nature (1978) 1.83
Use of a chromosome 21 cloned DNA probe for the analysis of non-disjunction in Down syndrome. Hum Genet (1984) 1.81
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80