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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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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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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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3 Evaluation of the Multiplicom CFTR MASTR V2 kit on a Roche 454 Junior NGS platform as a diagnostic tool for a comprehensive analysis of the CFTR gene

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

2013

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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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Andrological description of a population of azoospermic men with agenesis of the vas deferens

Progrès en urologie (Paris), 2014-02, Vol.24 (2), p.132-137

2014

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A new large CFTR rearrangement illustrates the importance of searching for complex alleles

Human mutation, 2006-07, Vol.27 (7), p.716-717

2006

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7 Mutation analysis of CFTR gene in a region of North of France: uncommon and novel mutations

Journal of cystic fibrosis, 2011, Vol.10, p.S2-S2

2011

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WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database

Journal of cystic fibrosis, 2012-06, Vol.11, p.S17-S17

2012

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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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Comprehensive analysis of the French NBS cohort: Excellent mutation detection rate despite high allelic heterogeneity

Journal of cystic fibrosis, 2009, Vol.8, p.S4-S4

2009

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Axonemal Dynein Intermediate-Chain Gene ( DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)

American journal of human genetics, 2001-04, Vol.68 (4), p.1030-1035

2001

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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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A French collaborative study indicative of a very low classical-CF penetrance of R117H; implications for genetic counselling

Journal of cystic fibrosis, 2008-06, Vol.7, p.S12-S12

2008

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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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Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Human mutation, 2000-08, Vol.16 (2), p.143-156

2000

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Description andrologique d’une population azoosperme avec une agénésie des canaux déférents consultant pour infertilité

Progrès en urologie (Paris), 2014-02, Vol.24 (2), p.132-137

2014

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Description andrologique d'une population azoosperme avec une agénésie des canaux déférents consultant pour infertilité

Progrès en urologie. Formation médicale continue, 2014, Vol.24 (2), p.132-137

2014

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Rapid diagnosis of mitochondrial mutation at position 11778-associated Leber hereditary optic neuropathy

Clinical chemistry (Baltimore, Md.), 1992-07, Vol.38 (7), p.1390-1390

1992

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Determination of thiopental and pentobarbital in plasma using high-performance liquid chromatography

Journal of chromatography, 1985-01, Vol.343 (2), p.437-442

1985

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Sweat chloride and ΔF508 mutation in chronic bronchitis or bronchiectasis

The Lancet (British edition), 1993-10, Vol.342 (8877), p.997-997

1993

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Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion

The Lancet (British edition), 1990-06, Vol.335 (8701), p.1340-1340

1990

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

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

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

3 Evaluation of the Multiplicom CFTR MASTR V2 kit on a Roche 454 Junior NGS platform as a diagnostic tool for a comprehensive analysis of the CFTR gene

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

Andrological description of a population of azoospermic men with agenesis of the vas deferens

A new large CFTR rearrangement illustrates the importance of searching for complex alleles

7 Mutation analysis of CFTR gene in a region of North of France: uncommon and novel mutations

WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database

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

Comprehensive analysis of the French NBS cohort: Excellent mutation detection rate despite high allelic heterogeneity

Axonemal Dynein Intermediate-Chain Gene ( DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)

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

A French collaborative study indicative of a very low classical-CF penetrance of R117H; implications for genetic counselling

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

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Description andrologique d’une population azoosperme avec une agénésie des canaux déférents consultant pour infertilité

Description andrologique d'une population azoosperme avec une agénésie des canaux déférents consultant pour infertilité

Rapid diagnosis of mitochondrial mutation at position 11778-associated Leber hereditary optic neuropathy

Determination of thiopental and pentobarbital in plasma using high-performance liquid chromatography

Sweat chloride and ΔF508 mutation in chronic bronchitis or bronchiectasis

Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion

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