Published in Genomics on May 01, 1991
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Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature (1985) 7.77
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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet (1992) 5.12
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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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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
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
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
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
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Clonal genomic alterations in glioma malignancy stages. Cancer Res (1988) 2.39
Dusty starburst galaxies in the early Universe as revealed by gravitational lensing. Nature (2013) 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
In vivo interaction of beta-lactam antibiotics with the penicillin-binding proteins of Streptococcus pneumoniae. Antimicrob Agents Chemother (1980) 2.29
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Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet (2001) 2.19
Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven. Nucleic Acids Res (1986) 2.16
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Mitotic recombination of chromosome 17 in astrocytomas. Proc Natl Acad Sci U S A (1989) 2.14
Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism. Lancet (1988) 2.13
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Predisposing locus for Alzheimer's disease on chromosome 21. Lancet (1989) 1.99
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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
Cuff failure--a complication of tracheal intubation. Anaesthesia (1991) 1.95
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet (1997) 1.95
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Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet (1997) 1.91
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Inducible, transferable resistance to vancomycin in Enterococcus faecium, D399. J Antimicrob Chemother (1989) 1.87
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
Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am J Hum Genet (1997) 1.82
Use of a chromosome 21 cloned DNA probe for the analysis of non-disjunction in Down syndrome. Hum Genet (1984) 1.81
An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene. Nucleic Acids Res (1981) 1.80
Model for antenatal diagnosis of beta-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms. Nature (1980) 1.79
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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet (2001) 1.79
Friedreich ataxia: an overview. J Med Genet (2000) 1.79
Attitudes to carrier screening for cystic fibrosis: a survey of health care professionals, relatives of sufferers and other members of the public. Br J Gen Pract (1991) 1.78
The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase. Nat Genet (1996) 1.77
Indirect cystic fibrosis carrier detection. Lancet (1987) 1.76
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The nucleotide sequence of somatic 5 S RNA from Xenopus laevis. FEBS Lett (1972) 1.72
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Non-invasive first trimester antenatal diagnosis. Br J Obstet Gynaecol (1992) 1.72
Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med (2001) 1.71
Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet (2005) 1.68
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Genes coding for polysomal 9S RNA of sea urchins: conservation and divergence. Nature (1972) 1.65
Cloning of Drosophila choline acetyltransferase cDNA. Proc Natl Acad Sci U S A (1986) 1.65
A cytological map of the human X chromosome--evidence for non-random recombination. Nucleic Acids Res (1984) 1.64
A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis. Lancet (1985) 1.64
Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. J Med Genet (2003) 1.62
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am J Hum Genet (1988) 1.60
Review article: one-week clarithromycin triple therapy regimens for eradication of Helicobacter pylori. Aliment Pharmacol Ther (1998) 1.59
Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. Hum Mol Genet (1994) 1.58
There are approximately 20 actin gene in the human genome. Nucleic Acids Res (1981) 1.58
Same-day, first-trimester antenatal diagnosis for cystic fibrosis by gene amplification. Lancet (1988) 1.58
Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis. Hum Genet (1985) 1.57
Non-invasive liposome-mediated gene delivery can correct the ion transport defect in cystic fibrosis mutant mice. Nat Genet (1993) 1.55
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Microdissection of and microcloning from the short arm of human chromosome 2. Mol Cell Biol (1986) 1.55
High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet (2000) 1.54
Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. J Med Genet (1983) 1.54
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum Genet (1985) 1.53
Stroke prevention trial in sickle cell anemia. Control Clin Trials (1998) 1.53
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