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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Journal of cystic fibrosis, 2008-05, Vol.7 (3), p.179-196

2008

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Recommendations for the classification of diseases as CFTR-related disorders

Journal of cystic fibrosis, 2011-06, Vol.10, p.S86-S102

2011

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Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Clinical genetics, 2010-05, Vol.77 (5), p.464-473

2010

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Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas

Gut, 2003-08, Vol.52 (8), p.1159-1164

2003

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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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Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection

Genes and immunity, 2011-07, Vol.12 (5), p.370-377

2011

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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

Nature genetics, 1999-06, Vol.22 (2), p.128-129

1999

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Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X

Journal of medical genetics, 2007-05, Vol.44 (5), p.341-346

2007

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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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Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene

Proceedings of the National Academy of Sciences - PNAS, 1990-11, Vol.87 (21), p.8447-8451

1990

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Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients

Journal of applied genetics, 2010, Vol.51 (3), p.323-330

2010

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Higher Proportion of Intact Exon 9 CFTR mRNA in Nasal Epithelium Compared with Vas Deferens

Human molecular genetics, 1997-11, Vol.6 (12), p.2099-2107

1997

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The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants

Archives of disease in childhood, 2005-07, Vol.90 (7), p.675-679

2005

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12 The relation between meconium ileus prevalence score and functional severity of CFTR mutations

Journal of cystic fibrosis, 2011, Vol.10, p.S3-S3

2011

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CF diagnosis algorithms: challenging dogma

Journal of cystic fibrosis, 2010, Vol.9, p.S10-S10

2010

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A novel paradigm for attributing the diagnosis of CF disease

Journal of cystic fibrosis, 2010, Vol.9, p.S10-S10

2010

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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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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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COX2 as a protective modifier of CF pulmonary disease severity

Journal of cystic fibrosis, 2008-06, Vol.7, p.S1-S1

2008

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Prostaglandin-endoperoxide synthase genesCOX1 andCOX2 — novel modifiers of disease severity in cystic fibrosis patients

Journal of applied genetics, 2010, Vol.51 (3), p.323-330

2010

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CFTR gene variant for patients with congenital absence of vas deferens

American journal of human genetics, 1995-10, Vol.57 (4), p.958-960

1995

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Uncertainty in the diagnosis of cystic fibrosis: Possible role of in vivo nasal potential difference measurements

The Journal of pediatrics, 1998-04, Vol.132 (4), p.596-599

1998

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Do in silico tools predict the clinical consequences of CFTR missense mutations?

Journal of cystic fibrosis, 2008-06, Vol.7, p.S3-S3

2008

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Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes

The Journal of pediatrics, 2005-09, Vol.147 (3), p.S83-S88

2005

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Cystic Fibrosis: Genotypic and Phenotypic Variations

Annual review of genetics, 1995-01, Vol.29 (1), p.777-807

1995

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Recommendations for the classification of diseases as CFTR-related disorders

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas

Genotype and Phenotype in Cystic Fibrosis

Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X

Genetic Modifiers of Lung Disease in Cystic Fibrosis

Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene

Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients

Higher Proportion of Intact Exon 9 CFTR mRNA in Nasal Epithelium Compared with Vas Deferens

The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants

12 The relation between meconium ileus prevalence score and functional severity of CFTR mutations

CF diagnosis algorithms: challenging dogma

A novel paradigm for attributing the diagnosis of CF disease

Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis

Clinical Manifestations of Cystic Fibrosis Among Patients With Diagnosis in Adulthood

COX2 as a protective modifier of CF pulmonary disease severity

Prostaglandin-endoperoxide synthase genesCOX1 andCOX2 — novel modifiers of disease severity in cystic fibrosis patients

CFTR gene variant for patients with congenital absence of vas deferens

Uncertainty in the diagnosis of cystic fibrosis: Possible role of in vivo nasal potential difference measurements

Do in silico tools predict the clinical consequences of CFTR missense mutations?

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes

Cystic Fibrosis: Genotypic and Phenotypic Variations

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