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Refinado por: Nome da Publicação: Journal Of Cystic Fibrosis remover
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Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene
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Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

Bergougnoux, A. ; Délétang, K. ; Pommier, A. ; Varilh, J. ; Houriez, F. ; Altieri, J.P. ; Koenig, M. ; Férec, C. ; Claustres, M. ; Lalau, G. ; Bienvenu, T. ; Audrézet, M.P. ; Pagin, A. ; Girodon, E. ; Raynal, C. ; Taulan-Cadars, M.

Journal of cystic fibrosis, 2019-07, Vol.18 (4), p.468-475 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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2
Penetrance is a critical parameter for assessing the disease liability of CFTR variants
Penetrance is a critical parameter for assessing the disease liability of CFTR variants
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Penetrance is a critical parameter for assessing the disease liability of CFTR variants

Boussaroque, A. ; Audrézet, M.-P. ; Raynal, C. ; Sermet-Gaudelus, I. ; Bienvenu, T. ; Férec, C. ; Bergougnoux, A. ; Lopez, M. ; Scotet, V. ; Munck, A. ; Girodon, E.

Journal of cystic fibrosis, 2020-11, Vol.19 (6), p.949-954 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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3
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
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The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Bergougnoux, A. ; Billet, A. ; Ka, C. ; Heller, M. ; Degrugillier, F. ; Vuillaume, M.-L. ; Thoreau, V. ; Sasorith, S. ; Bareil, C. ; Thèze, C. ; Ferec, C. ; Gac, G. Le ; Bienvenu, T. ; Bieth, E. ; Gaston, V. ; Lalau, G. ; Pagin, A. ; Malinge, M.-C. ; Dufernez, F. ; Lemonnier, L. ; Koenig, M. ; Fergelot, P. ; Claustres, M. ; Taulan-Cadars, M. ; Kitzis, A. ; Reboul, M.-P. ; Becq, F. ; Fanen, P. ; Mekki, C. ; Audrezet, M.-P. ; Girodon, E. ; Raynal, C.

Journal of cystic fibrosis, 2023-05, Vol.22 (3), p.515-524 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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4
WS10.1 Isolated non-visualisation of foetal gallbladder should be considered for the prenatal diagnosis of cystic fibrosis
WS10.1 Isolated non-visualisation of foetal gallbladder should be considered for the prenatal diagnosis of cystic fibrosis
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WS10.1 Isolated non-visualisation of foetal gallbladder should be considered for the prenatal diagnosis of cystic fibrosis

Bergougnoux, A. ; Jouannic, J.-M. ; Verneau, F. ; Bienvenu, T. ; Gaitch, N. ; Raynal, C. ; Girodon, E.

Journal of cystic fibrosis, 2018-06, Vol.17, p.S17-S18 [Periódico revisado por pares]

Elsevier B.V

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5
P013 Penetrance is a critical parameter for assessing the disease liability of CFTR variants
P013 Penetrance is a critical parameter for assessing the disease liability of CFTR variants
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P013 Penetrance is a critical parameter for assessing the disease liability of CFTR variants

Boussaroque, A. ; Audrézet, M.-P. ; Munck, A. ; Raynal, C. ; Sermet-Gaudelus, I. ; Bienvenu, T. ; Férec, C. ; Bergougnoux, A. ; Girodon, E.

Journal of cystic fibrosis, 2019-06, Vol.18, p.S60-S60 [Periódico revisado por pares]

Elsevier B.V

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6
WS15.2 Massive parallel sequencing of the CFTR gene: a collaborative validation in diagnostic practice highlights strengths and limitations
WS15.2 Massive parallel sequencing of the CFTR gene: a collaborative validation in diagnostic practice highlights strengths and limitations
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WS15.2 Massive parallel sequencing of the CFTR gene: a collaborative validation in diagnostic practice highlights strengths and limitations

Said, O ; Audrézet, M.-P ; Gaston, V ; Reboul, M.-P ; Férec, C ; Bieth, E ; Maurin, P ; Raynal, C ; Bergougnoux, A ; Pagin, A ; Lalau, G ; Bienvenu, T ; Girodon, E

Journal of cystic fibrosis, 2017-06, Vol.16, p.S27-S27 [Periódico revisado por pares]

Elsevier B.V

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7
4 The novel p.Cys1410 mutation causes severe neonatal CF in a Western Sub-Saharan African family
4 The novel p.Cys1410 mutation causes severe neonatal CF in a Western Sub-Saharan African family
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4 The novel p.Cys1410 mutation causes severe neonatal CF in a Western Sub-Saharan African family

Mekki, C ; Mirlesse, V ; Le Floch, A ; Eche, E ; Rideau, A ; Bienvenu, T ; Girodon, E ; Gérardin, M ; Fanen, P ; de Becdelievre, A

Journal of cystic fibrosis, 2017-06, Vol.16, p.S63-S64 [Periódico revisado por pares]

Elsevier B.V

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8
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
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Artigo 		Adicionar ao Meu Espaço

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

Bergougnoux, A. ; Billet, A. ; Ka, C. ; Heller, M. ; Degrugillier, F. ; Vuillaume, M.-L. ; Thoreau, Vincent ; Sasorith, S. ; Bareil, C. ; Thèze, C. ; Ferec, C. ; Gac, G. Le ; Bienvenu, T. ; Bieth, E. ; Gaston, V. ; Lalau, G. ; Pagin, A. ; Malinge, M.-C. ; Dufernez, F. ; Lemonnier, L. ; Koenig, M. ; Fergelot, P. ; Claustres, M. ; Taulan-Cadars, M. ; Kitzis, A. ; Reboul, M.-P. ; Becq, F. ; Fanen, P. ; Mekki, C. ; Audrezet, M.-P. ; Girodon, E. ; Raynal, C.

Journal of cystic fibrosis, 2023-05, Vol.22 (3), p.515-524 [Periódico revisado por pares]

Elsevier

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9
WS09.5 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
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WS09.5 Penetrance is a critical parameter for assessing the disease liability of CFTR variants

Boussaroque, A. ; Audrézet, M.-P. ; Raynal, C. ; Sermet, I. ; Bienvenu, T. ; Férec, C. ; Bergougnoux, A. ; Lopez, M. ; Scotet, V. ; Munck, A. ; Girodon, E.

Journal of cystic fibrosis, 2020-06, Vol.19, p.S16-S16 [Periódico revisado por pares]

Elsevier B.V

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10
WS21.01 AQP5 and CFTR, two genes associated with pseudo-aquagenic palmoplantar keratoderma?
WS21.01 AQP5 and CFTR, two genes associated with pseudo-aquagenic palmoplantar keratoderma?
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WS21.01 AQP5 and CFTR, two genes associated with pseudo-aquagenic palmoplantar keratoderma?

Girodon, E. ; Lopez, M. ; Sperelakis-Beedham, B. ; Bourrat, E. ; Gaitch, N. ; Houriez, F. ; Martinez, B. ; Fajac, I. ; Burgel, P.-R. ; Hickman, G. ; Audrézet, M.-P. ; Guerrot, A.-M. ; Cabet, F. ; Gerfaud-Valentin, M. ; Nove-Josserand, R. ; Raynal, C. ; Pagin, A. ; Reboul, M.-P. ; De Becdelièvre, A. ; Callebaut, I. ; Bienvenu, T.

Journal of cystic fibrosis, 2022-06, Vol.21, p.S41-S41 [Periódico revisado por pares]

European Cystic Fibrosis Society

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