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Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association

The European respiratory journal, 2017-11, Vol.50 (5), p.1700314-1700314

2017

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Ethnicity impacts the cystic fibrosis diagnosis: A note of caution

Journal of cystic fibrosis, 2017-07, Vol.16 (4), p.488-491

2017

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High accuracy mutation detection in leukemia on a selected panel of cancer genes

PloS one, 2012-06, Vol.7 (6), p.e38463-e38463

2012

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The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation

Life (Basel, Switzerland), 2020-12, Vol.11 (1), p.14

2020

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Differential Induction of Human Beta‐Defensin Expression by Periodontal Commensals and Pathogens in Periodontal Pocket Epithelial Cells

Journal of periodontology (1970), 2005-08, Vol.76 (8), p.1293-1303

2005

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Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

Human mutation, 2010-04, Vol.31 (4), p.421-428

2010

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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

Nature communications, 2014-07, Vol.5 (1), p.4418-4418, Article 4418

2014

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Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms

Chest, 2009-05, Vol.135 (5), p.1233-1242

2009

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Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

Orphanet journal of rare diseases, 2014-01, Vol.9 (1), p.11-11

2014

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Genotype-Phenotype Correlations for the Paranasal Sinuses in Cystic Fibrosis

American journal of respiratory and critical care medicine, 1999-05, Vol.159 (5), p.1412-1416

1999

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The Kalimantacin Polyketide Antibiotics Inhibit Fatty Acid Biosynthesis in Staphylococcus aureus by Targeting the Enoyl‐Acyl Carrier Protein Binding Site of FabI

Angewandte Chemie International Edition, 2020-06, Vol.59 (26), p.10549-10556

International ed. in English, 2020

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Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations

European journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.51-65

2009

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The 15q24/25 Susceptibility Variant for Lung Cancer and Chronic Obstructive Pulmonary Disease Is Associated with Emphysema

American journal of respiratory and critical care medicine, 2010-03, Vol.181 (5), p.486-493

2010

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Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

European journal of human genetics : EJHG, 2008-08, Vol.17 (1), p.51-65

2008

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A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition

The Journal of physiology, 2010-04, Vol.588 (8), p.1211-1225

2010

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Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis

Journal of cystic fibrosis, 2022-07, Vol.21 (4), p.644-651

2022

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Inhibition of volume-regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator

The Journal of physiology, 1999-02, Vol.515 (1), p.75-85

1999

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Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%?

The European respiratory journal, 2013-10, Vol.42 (4), p.1159-1161

2013

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Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia

Journal of medical genetics, 2011-01, Vol.48 (1), p.24-31

2011

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Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Journal of cystic fibrosis, 2008-03, Vol.7 (2), p.102-109

2008

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The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions

Journal of cystic fibrosis, 2002-03, Vol.1 (1), p.13-29

2002

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Molecular Analysis of the Breast Cancer Genes BRCA1 and BRCA2 Using Amplicon-Based Massive Parallel Pyrosequencing

The Journal of molecular diagnostics : JMD, 2012-11, Vol.14 (6), p.623-630

2012

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Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

Human mutation, 1999, Vol.13 (3), p.197-202

1999

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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

The Journal of clinical investigation, 1998-01, Vol.101 (2), p.487-496

1998

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Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution

High accuracy mutation detection in leukemia on a selected panel of cancer genes

The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation

Differential Induction of Human Beta‐Defensin Expression by Periodontal Commensals and Pathogens in Periodontal Pocket Epithelial Cells

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

Genotype-Phenotype Correlations for the Paranasal Sinuses in Cystic Fibrosis

The Kalimantacin Polyketide Antibiotics Inhibit Fatty Acid Biosynthesis in Staphylococcus aureus by Targeting the Enoyl‐Acyl Carrier Protein Binding Site of FabI

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations

The 15q24/25 Susceptibility Variant for Lung Cancer and Chronic Obstructive Pulmonary Disease Is Associated with Emphysema

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition

Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis

Inhibition of volume-regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator

Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%?

Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia

Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions

Molecular Analysis of the Breast Cancer Genes BRCA1 and BRCA2 Using Amplicon-Based Massive Parallel Pyrosequencing

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

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