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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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Newborn screening for CF in France: An exemplary national experience

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2020-02, Vol.27, p.eS35-eS40

2020

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Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

Journal of cystic fibrosis, 2019-07, Vol.18 (4), p.468-475

2019

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Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC) : major implications for genetic counselling

Human genetics, 2001-04, Vol.108 (4), p.290-298

2001

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Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis

Journal of medical genetics, 1999-03, Vol.36 (3), p.228-232

1999

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Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies

Journal of medical genetics, 2002-06, Vol.39 (6), p.443-448

2002

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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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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

Journal of medical genetics, 2009-11, Vol.46 (11), p.752-758

2009

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3 How to improve the efficiency of Next Generation Sequencing in the molecular diagnosis of cystic fibrosis

Journal of cystic fibrosis, 2016-06, Vol.15, p.S51-S51

2016

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WS11.1 The French CF newborn screening: optimization of the programme by a centralized tracking process

Journal of cystic fibrosis, 2016-06, Vol.15, p.S17-S17

2016

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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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Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis ? Analyses of the CFTR gene in 67 patients

American journal of human genetics, 1995, Vol.56 (1), p.272-277

1995

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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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WS11.6 Newborn screening for cystic fibrosis: Rationale for p.Arg117His (R117H) removal from the CFTR mutation panel in France

Journal of cystic fibrosis, 2015-06, Vol.14, p.S23-S23

2015

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10 Mild cystic fibrosis phenotype in adult patients with novel 3272–16T>A mutation

Journal of cystic fibrosis, 2015-06, Vol.14, p.S58-S58

2015

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WS18.1 Towards a better understanding of survival data in CF

Journal of cystic fibrosis, 2015-06, Vol.14, p.S33-S33

2015

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ePS01.5 Update of CFTR mutation spectrum in cystic fibrosis patients from Peru

Journal of cystic fibrosis, 2015-06, Vol.14, p.S43-S43

2015

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WS11.1 Highlighting the importance of carrier testing in CF families

Journal of cystic fibrosis, 2015-06, Vol.14, p.S22-S22

2015

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WS11.4 Uptake of cascade testing in CF families: preliminary results from the experience of western Brittany, France

Journal of cystic fibrosis, 2014-06, Vol.13, p.S23-S23

2014

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ePS01.3 Cascade carrier testing within CF-affected families: who makes the test and when?

Journal of cystic fibrosis, 2016-06, Vol.15, p.S37-S37

2016

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Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2017-12, Vol.24 (12), p.e1-e14

2017

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4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience

Journal of cystic fibrosis, 2016-06, Vol.15, p.S52-S52

2016

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1 Targeted next generation sequencing (NGS) of the CFTR locus: Comparison of three technical approaches

Journal of cystic fibrosis, 2013-06, Vol.12, p.S48-S48

2013

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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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WS16.6 Is primary sclerosing cholangitis (PSC) a cystic fibrosis-related disorder? Electrophysiological testing and full sequencing of the CFTR gene

Journal of cystic fibrosis, 2015-06, Vol.14, p.S30-S30

2015

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

Newborn screening for CF in France: An exemplary national experience

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC) : major implications for genetic counselling

Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis

Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies

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

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

3 How to improve the efficiency of Next Generation Sequencing in the molecular diagnosis of cystic fibrosis

WS11.1 The French CF newborn screening: optimization of the programme by a centralized tracking process

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

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis ? Analyses of the CFTR gene in 67 patients

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

WS11.6 Newborn screening for cystic fibrosis: Rationale for p.Arg117His (R117H) removal from the CFTR mutation panel in France

10 Mild cystic fibrosis phenotype in adult patients with novel 3272–16T>A mutation

WS18.1 Towards a better understanding of survival data in CF

ePS01.5 Update of CFTR mutation spectrum in cystic fibrosis patients from Peru

WS11.1 Highlighting the importance of carrier testing in CF families

WS11.4 Uptake of cascade testing in CF families: preliminary results from the experience of western Brittany, France

ePS01.3 Cascade carrier testing within CF-affected families: who makes the test and when?

Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening

4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience

1 Targeted next generation sequencing (NGS) of the CFTR locus: Comparison of three technical approaches

CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

WS16.6 Is primary sclerosing cholangitis (PSC) a cystic fibrosis-related disorder? Electrophysiological testing and full sequencing of the CFTR gene

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