Published in Hum Genet on January 01, 1985
A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19. J Med Genet (1986) 0.96
Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11. Am J Hum Genet (1986) 0.85
The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4. Am J Hum Genet (1986) 0.85
Pairwise linkage analysis of 11 loci on human chromosome 4. Am J Hum Genet (1988) 0.82
Incorporate gene signature profiling into routine molecular testing. Appl Transl Genom (2013) 0.75
Exclusion of human chromosome 13q34 as the site of the cystic fibrosis mutation. Am J Hum Genet (1986) 0.75
D4S35 and D4S103 identify the same locus and MspI RFLP. Nucleic Acids Res (1990) 0.75
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57
Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature (1987) 10.21
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
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
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature (1985) 7.34
Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature (1981) 6.18
V beta-specific stimulation of human T cells by staphylococcal toxins. Science (1989) 5.34
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
Inducible, transferable resistance to vancomycin in Enterococcus faecalis A256. Antimicrob Agents Chemother (1989) 5.28
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
Progress towards construction of a total restriction fragment map of a human chromosome. Nucleic Acids Res (1987) 4.68
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell (2001) 4.60
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 gene for familial polyposis coli maps to the long arm of chromosome 5. Science (1987) 4.48
Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell (1997) 4.38
DiGeorge syndrome: part of CATCH 22. J Med Genet (1993) 4.30
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A (1984) 4.22
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
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature (1990) 3.84
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 mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature (1990) 3.48
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1989) 3.37
International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord (1992) 3.26
Plasmid-mediated beta-lactamase (TEM-7) involved in resistance to ceftazidime and aztreonam. Rev Infect Dis (1988) 3.12
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. Cytogenet Cell Genet (1985) 3.07
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
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. Nature (1991) 3.03
The balance between privacy, safety and community health. J Paediatr Child Health (2003) 3.00
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
Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature (1996) 2.95
An autosomal transcript in skeletal muscle with homology to dystrophin. Nature (1989) 2.91
Use of penicillin-binding proteins for the identification of enterococci. J Gen Microbiol (1986) 2.87
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet (1997) 2.85
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
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics (1988) 2.74
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
Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature (1987) 2.67
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet (1995) 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
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet (1998) 2.48
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
PDZ domains: targeting signalling molecules to sub-membranous sites. Bioessays (1997) 2.39
Physical mapping studies on the human X chromosome in the region Xq27-Xqter. Genomics (1987) 2.35
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
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet (1993) 2.27
Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet (1990) 2.21
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet (1995) 2.19
Report of the Committee on the Genetic Constitution of Chromosomes 20, 21, and 22. Cytogenet Cell Genet (1985) 2.18
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
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet (1995) 2.13
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
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet (1987) 2.08
Human haploinsufficiency--one for sorrow, two for joy. Nat Genet (1994) 2.06
Toward an animal model of cystic fibrosis: targeted interruption of exon 10 of the cystic fibrosis transmembrane regulator gene in embryonic stem cells. Proc Natl Acad Sci U S A (1991) 2.04
Structure of the human fetal globin gene locus. Nature (1979) 2.02
Comparison of vancomycin-inducible proteins from four strains of Enterococci. FEMS Microbiol Lett (1990) 2.01
Predisposing locus for Alzheimer's disease on chromosome 21. Lancet (1989) 1.99
DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child (1995) 1.98
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
Instability versus predictability: the molecular diagnosis of myotonic dystrophy. J Med Genet (1992) 1.94
ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins. Trends Biochem Sci (1996) 1.94
Blind nasal intubation is no longer necessary. Br J Anaesth (1990) 1.93
Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) (1986) 1.93
Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet (1986) 1.92
Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet (1997) 1.91
Pharmacokinetics and concentration-effect relationships of intervenous and oral clonidine. Clin Pharmacol Ther (1977) 1.91
A new DNA marker tightly linked to the fragile X locus (FRAXA). Science (1989) 1.88
Inducible, transferable resistance to vancomycin in Enterococcus faecium, D399. J Antimicrob Chemother (1989) 1.87
Immunological studies of yeast nuclear RNA polymerases at the subunit level. J Biol Chem (1980) 1.84