Published in Genomics on May 01, 1991
Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome. Am J Respir Crit Care Med (2008) 4.33
Arrays of complementary oligonucleotides for analysing the hybridisation behaviour of nucleic acids. Nucleic Acids Res (1994) 2.75
Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet (1992) 2.48
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet (1999) 2.21
Mode of action and application of Scorpion primers to mutation detection. Nucleic Acids Res (2000) 2.07
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
Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res (1998) 1.99
Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet (1992) 1.85
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet (1997) 1.84
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet (1997) 1.56
Multiplex allele-specific target amplification based on PCR suppression. Proc Natl Acad Sci U S A (2001) 1.54
Sequence specific generation of a DNA panhandle permits PCR amplification of unknown flanking DNA. Nucleic Acids Res (1992) 1.46
High-density multiplex detection of nucleic acid sequences: oligonucleotide ligation assay and sequence-coded separation. Nucleic Acids Res (1994) 1.41
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis. Am J Hum Genet (1996) 1.38
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet (1992) 1.32
Duplex Scorpion primers in SNP analysis and FRET applications. Nucleic Acids Res (2001) 1.29
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am J Hum Genet (1995) 1.29
Mutation analysis of 184 cystic fibrosis families in Wales. J Med Genet (1992) 1.27
Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes. Proc Natl Acad Sci U S A (2000) 1.19
Real-time detection of DNA hybridization and melting on oligonucleotide arrays by using optical wave guides. Proc Natl Acad Sci U S A (1995) 1.19
Worldwide genetic analysis of the CFTR region. Am J Hum Genet (2000) 1.18
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet (1992) 1.17
A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Am J Hum Genet (1991) 1.11
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. J Mol Diagn (2005) 1.11
A haplotype framework for cystic fibrosis mutations in Iran. J Mol Diagn (2006) 1.05
Complementation of null CF mice with a human CFTR YAC transgene. EMBO J (1997) 1.05
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. J Mol Diagn (2005) 1.04
Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer. BMC Genomics (2008) 1.02
Genetics of acute and chronic pancreatitis: An update. World J Gastrointest Pathophysiol (2014) 1.01
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. Am J Hum Genet (1999) 0.99
Chronic pancreatitis and cystic fibrosis. Gut (2003) 0.98
Mutation analysis in 600 French cystic fibrosis patients. J Med Genet (1994) 0.97
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Hum Genet (1993) 0.97
Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene. Proc Natl Acad Sci U S A (1994) 0.97
Cystic fibrosis-related diabetes: from CFTR dysfunction to oxidative stress. Clin Biochem Rev (2009) 0.96
CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am J Hum Genet (1995) 0.95
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene. Am J Hum Genet (1994) 0.95
Cystic fibrosis carrier frequencies in populations of African origin. J Med Genet (1999) 0.94
The silent codon change I507-ATC->ATT contributes to the severity of the ΔF508 CFTR channel dysfunction. FASEB J (2013) 0.93
Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients. Dig Dis Sci (2002) 0.92
Can a place of origin of the main cystic fibrosis mutations be identified? Am J Hum Genet (2001) 0.90
Asthma and pulmonary function abnormalities in heterozygotes for cystic fibrosis transmembrane regulator gene mutations. Int J Clin Exp Med (2008) 0.90
Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet (2007) 0.90
Functional human CFTR produced by a stable minichromosome. EMBO Rep (2002) 0.88
Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis. Korean J Lab Med (2011) 0.87
Rapid determination of nucleotide content and its application to the study of genome structure. Nucleic Acids Res (1991) 0.87
Nuclease-mediated double-strand break (DSB) enhancement of small fragment homologous recombination (SFHR) gene modification in human-induced pluripotent stem cells (hiPSCs). Methods Mol Biol (2014) 0.87
Transgenic hCFTR expression fails to correct β-ENaC mouse lung disease. Am J Physiol Lung Cell Mol Physiol (2011) 0.86
CFTR mutations and reproductive outcomes in a population isolate. Hum Genet (2007) 0.86
Down-regulation of cystic fibrosis transmembrane conductance regulator gene expression by agents that modulate intracellular divalent cations. Mol Cell Biol (1992) 0.86
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy. BMC Med Genet (2004) 0.85
Nasal potential difference in cystic fibrosis considering severe CFTR mutations. Dis Markers (2015) 0.84
Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. J Med Genet (1997) 0.84
Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn (2008) 0.84
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. J Mol Diagn (2007) 0.83
CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. J Med Genet (1993) 0.82
The cystic fibrosis gene: a molecular genetic perspective. Cold Spring Harb Perspect Med (2013) 0.81
The Bmdsx transgene including trimmed introns is sex-specifically spliced in tissues of the silkworm, Bombyx mori. J Insect Sci (2005) 0.81
Synonymous codon usage affects the expression of wild type and F508del CFTR. J Mol Biol (2015) 0.81
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells. Hum Genet (1996) 0.80
Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis. J Assist Reprod Genet (2003) 0.80
Genomic DNA sequence of Rhesus (M. mulatta) cystic fibrosis (CFTR) gene. Mamm Genome (1998) 0.79
Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran. Iran J Basic Med Sci (2013) 0.79
SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII. Nucleic Acids Res (1991) 0.79
Transfer of a constitutive viral promoter-cystic fibrosis transmembrane conductance regulator cDNA to human epithelial cells conveys resistance to down-regulation of cAMP-regulated Cl- secretion in the presence of inflammatory stimuli. Nucleic Acids Res (1994) 0.78
Cystic fibrosis gene mutations detected in hereditary pancreatitis. Pflugers Arch (1996) 0.77
Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population. Dis Markers (2015) 0.77
A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. J Med Genet (1994) 0.77
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy. Eur J Hum Genet (2012) 0.77
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. J Med Genet (2007) 0.77
Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman. Sultan Qaboos Univ Med J (2014) 0.76
WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient. J Mol Diagn (2008) 0.76
Mechanistic Approaches to Improve Correction of the Most Common Disease-Causing Mutation in Cystic Fibrosis. PLoS One (2016) 0.76
"KARIBIN," an information resource for obtaining genomic information in a cytogenetic band. Genome Res (1999) 0.75
Simultaneous single-cell detection of two mutations for cystic fibrosis. J Assist Reprod Genet (2000) 0.75
Online tool for the discrimination of equi-distributions. BMC Bioinformatics (2003) 0.75
Recent advances in cystic fibrosis. Postgrad Med J (1994) 0.75
A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation. Am J Hum Genet (1992) 0.75
Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation. J Med Genet (1998) 0.75
Clinical and genetic correlates of exercise performance in young children with cystic fibrosis. Percept Mot Skills (2010) 0.75
Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants. Appl Clin Genet (2016) 0.75
The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis. J Prenat Med (2010) 0.75
Medical genetics. Postgrad Med J (1991) 0.75
New nucleotide sequence data on the EMBL File Server. Nucleic Acids Res (1991) 0.75
Identification of a new DMD gene deletion by ectopic transcript analysis. J Med Genet (1992) 0.75
PharmGKB summary: very important pharmacogene information for CFTR. Pharmacogenet Genomics (2015) 0.75
Incorporate gene signature profiling into routine molecular testing. Appl Transl Genom (2013) 0.75
Heteropolymeric triplex-based genomic assay to detect pathogens or single-nucleotide polymorphisms in human genomic samples. PLoS One (2007) 0.75
Diagnosis of mutations by the PCR double RFLP method (PCR-dRFLP). Nucleic Acids Res (1994) 0.75
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science (1989) 40.22
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Identification of the cystic fibrosis gene: chromosome walking and jumping. Science (1989) 21.46
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet (1997) 6.83
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet (1996) 6.43
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science (1985) 5.81
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet (1996) 5.70
Multiple proteolytic systems, including the proteasome, contribute to CFTR processing. Cell (1995) 5.61
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature (1990) 5.42
A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature (1985) 5.07
A candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet (2001) 5.06
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A (1990) 4.74
Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell (1992) 4.71
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). N Engl J Med (1990) 4.70
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med (1990) 4.60
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet (2001) 4.58
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Cell (1996) 4.13
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nat Med (1997) 4.10
Cell surface P-glycoprotein associated with multidrug resistance in mammalian cell lines. Science (1983) 3.88
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell (1990) 3.70
Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. Development (1997) 3.66
Phosphorylation-regulated Cl- channel in CHO cells stably expressing the cystic fibrosis gene. Nature (1991) 3.61
Amplification of P-glycoprotein genes in multidrug-resistant mammalian cell lines. Nature (1985) 3.59
Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance. Cell (1991) 3.56
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet (1996) 3.50
Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science (1985) 3.43
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell (1997) 3.42
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet (1994) 3.38
Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet (1995) 3.27
Multi-ion pore behaviour in the CFTR chloride channel. Nature (1993) 3.14
A suggested nomenclature for designating mutations. Hum Mutat (1993) 3.10
Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP. EMBO J (1994) 2.93
Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5. Nucleic Acids Res (2001) 2.89
Protein kinase A (PKA) still activates CFTR chloride channel after mutagenesis of all 10 PKA consensus phosphorylation sites. J Biol Chem (1993) 2.85
BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet (1996) 2.75
High-resolution mapping of mammalian genes by in situ hybridization to free chromatin. Proc Natl Acad Sci U S A (1992) 2.72
Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet (1990) 2.72
Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem (1993) 2.69
The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells. J Biol Chem (1993) 2.65
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet (1996) 2.65
Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland. Nat Genet (1992) 2.64
A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet (1993) 2.64
Introduction and recovery of a selectable bacterial gene from the genome of mammalian cells. Mol Cell Biol (1982) 2.59
A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11. Gene (1993) 2.59
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet (1999) 2.57
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros (2008) 2.56
Perturbation of Hsp90 interaction with nascent CFTR prevents its maturation and accelerates its degradation by the proteasome. EMBO J (1998) 2.55
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet (1998) 2.51
Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet (1992) 2.48
Modes of DAPI banding and simultaneous in situ hybridization. Chromosoma (1993) 2.38
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med (1990) 2.37
Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily. J Biol Chem (1986) 2.31
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet (1996) 2.29
Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator. J Biol Chem (1994) 2.27
Genetic ablation: targeted expression of a toxin gene causes microphthalmia in transgenic mice. Science (1987) 2.27
Permeability of wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride channels to polyatomic anions. J Gen Physiol (1997) 2.26
Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site. Proc Natl Acad Sci U S A (1998) 2.16
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics (1991) 2.07
Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex. Nat Med (1999) 2.03
DNA-mediated transfer of multiple drug resistance and plasma membrane glycoprotein expression. Mol Cell Biol (1982) 2.03
Gene expression: chemical synthesis of E. coli ribosome binding sites and their use in directing the expression of mammalian proteins in bacteria. Nucleic Acids Res (1982) 2.01
Purification of P-glycoprotein from plasma membrane vesicles of Chinese hamster ovary cell mutants with reduced colchicine permeability. J Biol Chem (1979) 1.98
Genetic and biochemical characterization of multidrug resistance. Pharmacol Ther (1985) 1.92
Methods for analysis of multiple cystic fibrosis mutations. Hum Genet (1991) 1.88
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet (1999) 1.87
Cl- channel activity in Xenopus oocytes expressing the cystic fibrosis gene. J Biol Chem (1991) 1.86
Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene. Am J Hum Genet (1988) 1.80
MSP RFLP for X-linked proteolipid protein gene (PLP) identified with either rat or human PLP cDNA clone. Nucleic Acids Res (1987) 1.80
Voltage-dependent block of the cystic fibrosis transmembrane conductance regulator Cl- channel by two closely related arylaminobenzoates. J Gen Physiol (1993) 1.74
Multidrug-resistance phenotype in Chinese hamster ovary cells. Cancer Treat Rep (1983) 1.72
Identification of revertants for the cystic fibrosis delta F508 mutation using STE6-CFTR chimeras in yeast. Cell (1993) 1.72
The mdr1 gene, responsible for multidrug-resistance, codes for P-glycoprotein. Biochem Biophys Res Commun (1986) 1.71
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr (1995) 1.70
Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity. J Biol Chem (1996) 1.66
DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis. Am J Hum Genet (1989) 1.66
Dual effects of ADP and adenylylimidodiphosphate on CFTR channel kinetics show binding to two different nucleotide binding sites. J Gen Physiol (1999) 1.61
Human dopamine D1 receptor encoded by an intronless gene on chromosome 5. Nature (1990) 1.60
Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet (1998) 1.58
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet (1997) 1.56
Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits. Circ Res (1998) 1.56
Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros (2011) 1.54
Daunorubicin-resistant Chinese hamster ovary cells expressing multidrug resistance and a cell-surface P-glycoprotein. Cancer Res (1983) 1.53
CFTR gene variant for patients with congenital absence of vas deferens. Am J Hum Genet (1995) 1.47