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Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.180-184

2012

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A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

European journal of human genetics : EJHG, 2009-05, Vol.17 (12), p.1683-1687

2009

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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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A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Journal of cystic fibrosis, 2011-12, Vol.10 (6), p.479-482

2011

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Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis

Genetics in medicine, 2015-10, Vol.17 (10), p.796-806

2015

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A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

Human mutation, 2013-05, Vol.34 (5), p.774-784

2013

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Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations

European journal of human genetics : EJHG, 2006-01, Vol.14 (1), p.85-93

2006

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CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Journal of medical genetics, 2013-04, Vol.50 (4), p.220-227

2013

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Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis

Thorax, 2010-06, Vol.65 (6), p.539-544

2010

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Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens

Journal of medical genetics, 2011-03, Vol.48 (3), p.152-159

2011

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A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo

Epigenetics, 2014-07, Vol.9 (7), p.1007-1017

2014

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UMD-CFTR: A database dedicated to CF and CFTR-related disorders

Human mutation, 2010-09, Vol.31 (9), p.1011-1019

2010

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Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

Human mutation, 2011-08, Vol.32 (8), p.912-920

2011

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A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

European journal of human genetics : EJHG, 2009-12, Vol.17 (12), p.1683-1687

2009

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Large genomic rearrangements in the CFTR gene contribute to CBAVD

BMC medical genetics, 2007-04, Vol.8 (1), p.22-22

2007

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CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries

Annals of human genetics, 2010-09, Vol.74 (5), p.463-469

2010

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p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.36-42

2011

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Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.136-138

2005

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A large-scale study of the random variability of a coding sequence: a study on the CFTR gene

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.184-192

2005

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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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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus

European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.469-478

2016

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Should diffuse bronchiectasis still be considered a CFTR-related disorder?

Journal of cystic fibrosis, 2015-09, Vol.14 (5), p.646-653

2015

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Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

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

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis

Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens

A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo

UMD-CFTR: A database dedicated to CF and CFTR-related disorders

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

Large genomic rearrangements in the CFTR gene contribute to CBAVD

CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene

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

CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

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