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CFTR gene variants, epidemiology and molecular pathology

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2020-02, Vol.27, p.eS8-eS12

2020

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Hedgehog pathway and its inhibitors in chronic obstructive pulmonary disease (COPD)

Pharmacology & therapeutics (Oxford), 2022-12, Vol.240, p.108295, Article 108295

2022

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CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

British journal of dermatology (1951), 2019-11, Vol.181 (5), p.1097-1099

2019

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Virilization at puberty in adolescent girls may reveal a 46,XY disorder of sexual development

Endocrine Connections, 2023-12, Vol.12 (12), p.1-9

2023

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Penetrance is a critical parameter for assessing the disease liability of CFTR variants

Journal of cystic fibrosis, 2020-11, Vol.19 (6), p.949-954

2020

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The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Journal of cystic fibrosis, 2023-05, Vol.22 (3), p.515-524

2023

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Information needs on nutrition in link to cancer prevention among cancer patients, high-risk individuals and general population – A national cross-sectional study

Clinical nutrition ESPEN, 2023-04, Vol.54, p.421-429

2023

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WS15.2 Massive parallel sequencing of the CFTR gene: a collaborative validation in diagnostic practice highlights strengths and limitations

Journal of cystic fibrosis, 2017-06, Vol.16, p.S27-S27

2017

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WS15.1 CysMA , a new tool for the interpretation of rare CFTR missense variants

Journal of cystic fibrosis, 2017-06, Vol.16, p.S27-S27

2017

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11 A new multiplex PCR method for the quantification of aberrant transcripts from nasal epithelial cells of patients

Journal of cystic fibrosis, 2013-06, Vol.12, p.S50-S50

2013

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P075 Discrepancy between in vitro CFTR functional analysis and clinical response to elexacaftor/tezacaftor/ivacaftor (ETI) in a homozygous S364P (c.1090T>C) patient with cystic fibrosis

Journal of cystic fibrosis, 2023-06, Vol.22, p.S86-S86

2023

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Rectification d’un diagnostic initial d’insensibilité complète aux androgènes : complémentarité de l’examen clinique et de l’analyse génétique

Annales d'endocrinologie, 2023-02, Vol.84 (1), p.166-166

2023

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Des polymorphismes du gène HHIP impliqués dans les formes précoces de BPCO

Revue des maladies respiratoires actualités, 2024-01, Vol.16 (1), p.204

2024

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Hedgehog Interacting Protein (HHIP) polymorphisms involved in early chronic obstructive pulmonary disease (COPD)

Revue des maladies respiratoires, 2022-02, Vol.39 (2), p.115-115

2022

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WS10.1 Isolated non-visualisation of foetal gallbladder should be considered for the prenatal diagnosis of cystic fibrosis

Journal of cystic fibrosis, 2018-06, Vol.17, p.S17-S18

2018

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Un nouveau variant en 5′UTR du gène du récepteur des androgènes (RA) chez deux patientes porteuses d’insensibilité complète aux androgens (ICA) avec séquence codante normale

Annales d'endocrinologie, 2020-09, Vol.81 (4), p.245-245

2020

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P013 Penetrance is a critical parameter for assessing the disease liability of CFTR variants

Journal of cystic fibrosis, 2019-06, Vol.18, p.S60-S60

2019

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WS09.5 Penetrance is a critical parameter for assessing the disease liability of CFTR variants

Journal of cystic fibrosis, 2020-06, Vol.19, p.S16-S16

2020

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The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Journal of cystic fibrosis, 2023-05, Vol.22 (3), p.515-524

2023

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P019 Variants in the CFTR gene: a predisposition factor to aquagenic palmoplantar keratoderma

Journal of cystic fibrosis, 2019-06, Vol.18, p.S62-S62

2019

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P012 CFTR-NGS, an expanded version of the CFTR-France database for the interpretation of whole CFTR next generation sequencing data

Journal of cystic fibrosis, 2019-06, Vol.18, p.S60-S60

2019

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WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database

Journal of cystic fibrosis, 2020-06, Vol.19, p.S33-S33

2020

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P017 Update of CFTR-France: toward a more relevant dataset for predicting the impact of rare CFTR variants

Journal of cystic fibrosis, 2019-06, Vol.18, p.S61-S62

2019

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WS17.1 The multi-faceted nature of CFTR exonic mutations: impact on their functional classification

Journal of cystic fibrosis, 2018-06, Vol.17, p.S31-S31

2018

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Role of transcription factors and microRNAs on CFTR gene expression

Revue des maladies respiratoires, 2014-09, Vol.31 (7), p.674-674

2014

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CFTR gene variants, epidemiology and molecular pathology

Hedgehog pathway and its inhibitors in chronic obstructive pulmonary disease (COPD)

CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

Virilization at puberty in adolescent girls may reveal a 46,XY disorder of sexual development

Penetrance is a critical parameter for assessing the disease liability of CFTR variants

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Information needs on nutrition in link to cancer prevention among cancer patients, high-risk individuals and general population – A national cross-sectional study

WS15.2 Massive parallel sequencing of the CFTR gene: a collaborative validation in diagnostic practice highlights strengths and limitations

WS15.1 CysMA , a new tool for the interpretation of rare CFTR missense variants

11 A new multiplex PCR method for the quantification of aberrant transcripts from nasal epithelial cells of patients

P075 Discrepancy between in vitro CFTR functional analysis and clinical response to elexacaftor/tezacaftor/ivacaftor (ETI) in a homozygous S364P (c.1090T>C) patient with cystic fibrosis

Rectification d’un diagnostic initial d’insensibilité complète aux androgènes : complémentarité de l’examen clinique et de l’analyse génétique

Des polymorphismes du gène HHIP impliqués dans les formes précoces de BPCO

Hedgehog Interacting Protein (HHIP) polymorphisms involved in early chronic obstructive pulmonary disease (COPD)

WS10.1 Isolated non-visualisation of foetal gallbladder should be considered for the prenatal diagnosis of cystic fibrosis

Un nouveau variant en 5′UTR du gène du récepteur des androgènes (RA) chez deux patientes porteuses d’insensibilité complète aux androgens (ICA) avec séquence codante normale

P013 Penetrance is a critical parameter for assessing the disease liability of CFTR variants

WS09.5 Penetrance is a critical parameter for assessing the disease liability of CFTR variants

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

P019 Variants in the CFTR gene: a predisposition factor to aquagenic palmoplantar keratoderma

P012 CFTR-NGS, an expanded version of the CFTR-France database for the interpretation of whole CFTR next generation sequencing data

WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database

P017 Update of CFTR-France: toward a more relevant dataset for predicting the impact of rare CFTR variants

WS17.1 The multi-faceted nature of CFTR exonic mutations: impact on their functional classification

Role of transcription factors and microRNAs on CFTR gene expression

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