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Normalization of obesity-associated insulin resistance through immunotherapy

Nature medicine, 2009-08, Vol.15 (8), p.921-929

2009

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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Nature genetics, 2013-10, Vol.45 (10), p.1160-1167

2013

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Genetic Modifiers of Lung Disease in Cystic Fibrosis

The New England journal of medicine, 2005-10, Vol.353 (14), p.1443-1453

2005

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Cystic Fibrosis Transmembrane Conductance Regulator Function Is Suppressed in Cigarette Smokers

American journal of respiratory and critical care medicine, 2006-05, Vol.173 (10), p.1139-1144

2006

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A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation

Genome Research, 2008-08, Vol.18 (8), p.1247-1258

2008

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Clinical Manifestations of Cystic Fibrosis Among Patients With Diagnosis in Adulthood

Chest, 2004-10, Vol.126 (4), p.1215-1224

2004

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Role of Cystic Fibrosis Transmembrane Conductance Regulator in Patients With Chronic Sinopulmonary Disease

Chest, 2012-10, Vol.142 (4), p.996-1004

2012

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Genotype and Phenotype in Cystic Fibrosis

Respiration, 2000, Vol.67 (2), p.117-133

Zielenski, Julian

2000

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Primary Sclerosing Cholangitis in Childhood is Associated with Abnormalities in Cystic Fibrosis–Mediated Chloride Channel Function

The Journal of pediatrics, 2007-09, Vol.151 (3), p.255-259

2007

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Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis

Human genetics, 2003-08, Vol.113 (3), p.286-292

2003

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Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis

Gastroenterology (New York, N.Y. 1943), 2011, Vol.140 (1), p.153-161

2011

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Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

Science (American Association for the Advancement of Science), 1989-09, Vol.245 (4922), p.1066-1073

1989

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Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Genomics (San Diego, Calif.), 1991-05, Vol.10 (1), p.214-228

1991

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Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and In Vivo Transepithelial Potentials

American journal of respiratory and critical care medicine, 2006-10, Vol.174 (7), p.787-794

2006

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Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

Thorax, 2014-03, Vol.69 (3), p.254-260

2014

Volltextzugriff (PDF)

Genetic modifiers of liver disease in cystic fibrosis

JAMA : the journal of the American Medical Association, 2009-09, Vol.302 (10), p.1076

2009

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A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Nature (London), 1990-07, Vol.346 (6282), p.366-369

1990

Volltextzugriff (PDF)

Complex two-gene modulation of lung disease severity in children with cystic fibrosis

The Journal of clinical investigation, 2008-03, Vol.118 (3), p.1040-1049

2008

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CFTR2: How will it help care?

Paediatric respiratory reviews, 2013-05, Vol.14, p.2-5

Castellani, Carlo

2013

Volltextzugriff (PDF)

Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis

Gastroenterology (New York, N.Y. 1943), 2002-12, Vol.123 (6), p.1857-1864

2002

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TLR5 as an anti-inflammatory target and modifier gene in cystic fibrosis

The Journal of immunology (1950), 2010-12, Vol.185 (12), p.7731-7738

2010

Volltextzugriff (PDF)

Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis

Pediatric pulmonology, 2011-04, Vol.46 (4), p.385-392

2011

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Evaluation of the disease liability of CFTR variants

Methods in molecular biology (Clifton, N.J.), 2011, Vol.742, p.355

2011

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Normalization of obesity-associated insulin resistance through immunotherapy

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Genetic Modifiers of Lung Disease in Cystic Fibrosis

Cystic Fibrosis Transmembrane Conductance Regulator Function Is Suppressed in Cigarette Smokers

A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation

Clinical Manifestations of Cystic Fibrosis Among Patients With Diagnosis in Adulthood

Role of Cystic Fibrosis Transmembrane Conductance Regulator in Patients With Chronic Sinopulmonary Disease

Genotype and Phenotype in Cystic Fibrosis

Primary Sclerosing Cholangitis in Childhood is Associated with Abnormalities in Cystic Fibrosis–Mediated Chloride Channel Function

Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis

Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and In Vivo Transepithelial Potentials

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2

Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

Genetic modifiers of liver disease in cystic fibrosis

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Complex two-gene modulation of lung disease severity in children with cystic fibrosis

CFTR2: How will it help care?

Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis

TLR5 as an anti-inflammatory target and modifier gene in cystic fibrosis

Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis

Evaluation of the disease liability of CFTR variants

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