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Modifier genes in Mendelian disorders: the example of cystic fibrosis.
- Published in:
- Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 57, doi. 10.1111/j.1749-6632.2010.05879.x
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- Article
Evidence for asthma susceptibility genes on chromosome 11 in an African-American population.
- Published in:
- Human Genetics, 2003, v. 113, n. 1, p. 71, doi. 10.1007/s00439-003-0934-4
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- Article
Environmental allergies and respiratory morbidities in cystic fibrosis.
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- Pediatric Pulmonology, 2013, v. 48, n. 9, p. 857, doi. 10.1002/ppul.22700
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- Article
A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies.
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- Pediatric Pulmonology, 2011, v. 46, n. 9, p. 857, doi. 10.1002/ppul.21456
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- Article
Cystic fibrosis genetics: from molecular understanding to clinical application.
- Published in:
- Nature Reviews Genetics, 2015, v. 16, n. 1, p. 45, doi. 10.1038/nrg3849
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- Article
Treating Specific Variants Causing Cystic Fibrosis.
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- 2017
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- Publication type:
- journal article
Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2002, v. 27, n. 5, p. 619, doi. 10.1165/rcmb.2001-0004OC
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- Article
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.
- Published in:
- 2019
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- Publication type:
- journal article
Extracellular vesicles enhance pulmonary transduction of stably associated adeno‐associated virus following intratracheal administration.
- Published in:
- Journal of Extracellular Vesicles, 2023, v. 12, n. 6, p. 1, doi. 10.1002/jev2.12324
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- Publication type:
- Article
Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis.
- Published in:
- International Forum of Allergy & Rhinology, 2020, v. 10, n. 6, p. 748, doi. 10.1002/alr.22548
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- Article
Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 680, doi. 10.1038/ejhg.2009.226
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- Article
Cystic Fibrosis: Using genetic association to identify modifiers of disease variability in cystic fibrosis.
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- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 890, doi. 10.1038/sj.ejhg.5201656
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- Publication type:
- Article
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 567, doi. 10.1038/sj.ejhg.5201590
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- Article
Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis.
- Published in:
- 2009
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- Publication type:
- journal article
Patients with Mutations in Gsα Have Reduced Activation of a Downstream Target in Epithelial Tissues due to Haploinsufficiency.
- Published in:
- 2007
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- Publication type:
- journal article
Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation.
- Published in:
- PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0239189
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- Publication type:
- Article
Sequences in the Amino Termini of GABA ρ and GABA<sub>A</sub> Subunits Specify Their Selective Interaction In Vitro.
- Published in:
- Journal of Neurochemistry, 1998, v. 70, n. 1, p. 40, doi. 10.1046/j.1471-4159.1998.70010040.x
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- Publication type:
- Article
Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study.
- Published in:
- BMC Pulmonary Medicine, 2014, v. 14, n. 1, p. 159, doi. 10.1186/1471-2466-14-159
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- Publication type:
- Article
Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study.
- Published in:
- 2014
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- Publication type:
- journal article
Potentially lethal cystic fibrosis gene variant in the orangutan.
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- American Journal of Primatology, 2021, v. 83, n. 12, p. 1, doi. 10.1002/ajp.23097
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- Article
Dopamine D2 Receptor RFLPs, Haplotypes and Their Association with Substance Use in Black and Caucasian Research Volunteers.
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- Human Heredity, 1993, v. 43, n. 4, p. 209, doi. 10.1159/000154133
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- Publication type:
- Article
A comparison of GABAC and ρ subunit receptors from the white perch retina.
- Published in:
- Visual Neuroscience, 1997, v. 14, n. 5, p. 843, doi. 10.1017/S0952523800011585
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- Publication type:
- Article
Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction and Radiographic Bronchiectasis in Current and Former Smokers: A Cross-Sectional Study.
- Published in:
- 2019
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- Publication type:
- letter
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.
- Published in:
- 2018
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- Publication type:
- journal article
Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.
- Published in:
- 2016
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- Publication type:
- journal article
Future Directions in Early Cystic Fibrosis Lung Disease Research.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2012, v. 185, n. 8, p. 887, doi. 10.1164/rccm.201111-2068WS
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- Publication type:
- Article
Location and Duration of Treatment of Cystic Fibrosis Respiratory Exacerbations.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2011, v. 184, n. 2, p. 278, doi. 10.1164/ajrccm.184.2.278
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- Publication type:
- Article
Heritability of Lung Disease Severity in Cystic Fibrosis.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2007, v. 175, n. 10, p. 1036, doi. 10.1164/rccm.200608-1164OC
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- Publication type:
- Article
Transmembrane Mutations Alter the Channel Characteristics of the Cystic Fibrosis Transmembrane Conductance Regulator Expressed in Xenopus Oocytes.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 1994, v. 4, n. 1/2, p. 10, doi. 10.1159/000154705
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- Article
Environmental and Non-CFTR Modifiers of Cystic Fibrosis.
- Published in:
- Current Medical Literature: Cystic Fibrosis, 2012, v. 2, n. 3, p. 57
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- Publication type:
- Article
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 10, p. 1923, doi. 10.1093/hmg/ddw065
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- Publication type:
- Article
Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 7, p. 1908, doi. 10.1093/hmg/ddu607
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- Publication type:
- Article
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2228, doi. 10.1093/hmg/ddn123
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- Article
Local vs Central Institutional Review Boards for Multicenter Studies—Reply.
- Published in:
- 2003
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- Publication type:
- Letter
Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population.
- Published in:
- 2000
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- Publication type:
- journal article
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
- Published in:
- Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0690-2
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- Publication type:
- Article
Effect of Temperature on Cystic Fibrosis Lung Disease and Infections: A Replicated Cohort Study.
- Published in:
- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027784
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- Article
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.
- Published in:
- Nature Genetics, 1999, v. 22, n. 2, p. 128, doi. 10.1038/9635
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- Article
Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits.
- Published in:
- 2019
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- Publication type:
- journal article
Variation in MSRA Modifies Risk of Neonatal Intestinal Obstruction in Cystic Fibrosis.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 3, p. 1, doi. 10.1371/journal.pgen.1002580
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- Publication type:
- Article
Optimized Regulation of Gene Expression Using Artificial Transcription Factors
- Published in:
- Molecular Therapy, 2002, v. 5, n. 6, p. 685, doi. 10.1006/mthe.2002.0610
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- Publication type:
- Article
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3493, doi. 10.1093/hmg/ddi374
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- Publication type:
- Article
A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 4, p. 715
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- Publication type:
- Article
Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 3, p. 407
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- Publication type:
- Article
Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 269
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- Publication type:
- Article
CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 7, p. 542
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- Publication type:
- Article
Interactions Between Secondhand Smoke and Genes That Affect Cystic Fibrosis Lung Disease.
- Published in:
- JAMA: Journal of the American Medical Association, 2008, v. 299, n. 4, p. 417, doi. 10.1001/jama.299.4.417
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- Publication type:
- Article
GABA<sub>C</sub> receptor ρ subunits are heterogeneously expressed in the human CNS and form homo- and heterooligomers with distinct physical properties.
- Published in:
- European Journal of Neuroscience, 1999, v. 11, n. 1, p. 41, doi. 10.1046/j.1460-9568.1999.00423.x
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- Publication type:
- Article
Genetic modifiers of cystic fibrosis-related diabetes.
- Published in:
- 2013
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- Publication type:
- journal article
Genetic Modifiers of Cystic Fibrosis--Related Diabetes.
- Published in:
- Diabetes, 2013, v. 62, n. 10, p. 3627, doi. 10.2337/db13-0510
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- Publication type:
- Article