Published in Am J Hum Genet on July 01, 1988
Likelihood methods for locating disease genes in nonequilibrium populations. Am J Hum Genet (1995) 4.36
Linkage disequilibrium, cystic fibrosis, and genetic counseling. Am J Hum Genet (1989) 2.19
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
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet (1997) 1.85
Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene. Am J Hum Genet (1989) 1.81
Is population screening for cystic fibrosis appropriate now? Am J Hum Genet (1990) 1.73
Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE) Am J Hum Genet (1994) 1.41
Pancreatic function and gene deletion F508 in cystic fibrosis. J Med Genet (1990) 0.99
Tracing the mutations in cystic fibrosis by means of closely linked DNA markers. Am J Hum Genet (1989) 0.91
Allelic association of microsatellites of 6p in Italian hemochromatosis patients. Hum Genet (1996) 0.88
Linkage disequilibrium study of RFLPs detected at the human muscle nicotinic acetylcholine receptor subunit genes. Am J Hum Genet (1989) 0.81
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms at two DNA markers, XV-2c and KM. 19, in North African families. Am J Hum Genet (1989) 0.77
Cystic fibrosis in Afro-Brazilians: XK haplotypes analysis supports the European origin of p.F508del mutation. Genetica (2017) 0.75
"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem (1984) 66.58
CpG-rich islands and the function of DNA methylation. Nature (1986) 24.90
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature (1987) 7.88
A closely linked genetic marker for cystic fibrosis. Nature (1985) 7.85
Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature (1985) 7.77
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet (1987) 2.73
Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. Nucleic Acids Res (1986) 2.34
Indirect cystic fibrosis carrier detection. Lancet (1987) 1.76
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57
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
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
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med (1996) 7.66
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature (1981) 6.18
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell (1996) 5.99
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
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 limits and motivating potential of sensory stimuli as reinforcers for autistic children. J Appl Behav Anal (1981) 4.23
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
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet (1986) 3.83
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
Integrating case-control and TDT studies. Ann Hum Genet (2005) 3.19
Plasmid-mediated beta-lactamase (TEM-7) involved in resistance to ceftazidime and aztreonam. Rev Infect Dis (1988) 3.12
Size and shape effects in the biodistribution of intravascularly injected particles. J Control Release (2009) 3.08
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
Two-locus maximum lod score analysis of a multifactorial trait: joint consideration of IDDM2 and IDDM4 with IDDM1 in type 1 diabetes. Am J Hum Genet (1995) 3.02
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
Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood (2000) 2.95
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet (1983) 2.93
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
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics (1991) 2.80
Linkage of the angiotensinogen gene to essential hypertension. N Engl J Med (1994) 2.80
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
The adhesive strength of non-spherical particles mediated by specific interactions. Biomaterials (2006) 2.71
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
Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum Mol Genet (1998) 2.53
Y chromosome sequence DNA amplified from peripheral blood of women in early pregnancy. Lancet (1994) 2.45
Laron dwarfism and mutations of the growth hormone-receptor gene. N Engl J Med (1989) 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
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
Safety of sentinel node biopsy in pregnant patients with breast cancer. Ann Oncol (2004) 2.31
In vivo interaction of beta-lactam antibiotics with the penicillin-binding proteins of Streptococcus pneumoniae. Antimicrob Agents Chemother (1980) 2.29
Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet (1990) 2.21
Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus. Nucleic Acids Res (1987) 2.16
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
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun (1995) 2.06
Structure of the human fetal globin gene locus. Nature (1979) 2.02
Estimated glomerular filtration rate, albuminuria and mortality in type 2 diabetes: the Casale Monferrato study. Diabetologia (2007) 2.01
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
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
A theoretical model for the margination of particles within blood vessels. Ann Biomed Eng (2005) 1.97
Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. Proc Natl Acad Sci U S A (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
Noninvasive measurement of forearm blood flow and oxygen consumption by near-infrared spectroscopy. J Appl Physiol (1985) (1994) 1.93
Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet (1997) 1.91
Electrocardiographic measures of left ventricular hypertrophy show greater heritability than echocardiographic left ventricular mass. Eur Heart J (2002) 1.89
Inducible, transferable resistance to vancomycin in Enterococcus faecium, D399. J Antimicrob Chemother (1989) 1.87
The impact of climate and traffic-related NO2 on the prevalence of asthma and allergic rhinitis in Italy. Clin Exp Allergy (2002) 1.87
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
Isolation and partial sequence of recombinant plasmids containing human alpha-, beta- and gamma-globin cDNA fragments. Nature (1978) 1.83
Isolation of CF cell lines corrected at DeltaF508-CFTR locus by SFHR-mediated targeting. Gene Ther (2002) 1.82
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet (1995) 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
Properties of mouse globin messenger ribonucleic acid and its preparation in milligram quantities. Biochemistry (1971) 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
Diagnosis of coeliac disease: time for a change? Arch Dis Child (1989) 1.76
DNA damage checkpoints and DNA replication controls in Saccharomyces cerevisiae. Mutat Res (2000) 1.76
Analysis of risk factors for the development of liver disease associated with cystic fibrosis. J Pediatr (1994) 1.76
Mouse globin gene expression in erythroid and non-erythroid tissues. Cell (1976) 1.75
Genome-wide association study of body mass index in 23 000 individuals with and without asthma. Clin Exp Allergy (2013) 1.74