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.
Published in Journal of cystic fibrosis (01.05.2023)
Published in Journal of cystic fibrosis (01.05.2023)
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Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma
Letertre, O., Jullie, M. L., Reboul, M. P., Leclerc‐Mercier, S., Charbit, F., Boralevi, F., Labrèze, C., Hadj‐Rabia, S., Morice‐Picard, F.
Published in Journal of the European Academy of Dermatology and Venereology (01.06.2023)
Published in Journal of the European Academy of Dermatology and Venereology (01.06.2023)
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Journal Article
CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma
Raynal, C., Girodon, E., Audrezet, M.P., Cabet, F., Pagin, A., Reboul, M.P., Dufernez, F., Fergelot, P., Bergougnoux, A., Fanen, P., Ferec, C., Bienvenu, T.
Published in British journal of dermatology (1951) (01.11.2019)
Published in British journal of dermatology (1951) (01.11.2019)
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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
Published in Journal of cystic fibrosis (01.06.2017)
Published in Journal of cystic fibrosis (01.06.2017)
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8 The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible
Hinzpeter, A, Reboul, M.-P, Zordan, C, Costes, B, Guichoux, J, Iron, A, Lacombe, D, Martin, N, Arveiler, B, Fanen, P, Fergelot, P, Girodon, E
Published in Journal of cystic fibrosis (01.06.2016)
Published in Journal of cystic fibrosis (01.06.2016)
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Journal Article
WS15.1 CysMA , a new tool for the interpretation of rare CFTR missense variants
Sasorith, S, Baux, D, Bareil, C, Bergougnoux, A, Colomb-Jung, V, Thèze, C, Audrézet, M.-P, Férec, C, Bienvenu, T, Girodon, E, Fanen, P, Mekki, C, Bieth, E, Gaston, V, Fergelot, P, Reboul, M.-P, Kitzis, A, Lalau, G, Pagin, A, Malinge, M.-C, Claustres, M, Raynal, C
Published in Journal of cystic fibrosis (01.06.2017)
Published in Journal of cystic fibrosis (01.06.2017)
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4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience
Bareil, C, Lemonnier, L, Dehillotte, C, Colomb-Jung, V, Thèze, C, Audrézet, M.-P, Férec, C, Bienvenu, T, Girodon, E, Fanen, P, Mekki, C, Bieth, E, Gaston, V, Fergelot, P, Reboul, M.-P, Kitzis, A, Lalau, G, Pagin, A, Malinge, M.-C, Raynal, C, Claustres, M
Published in Journal of cystic fibrosis (01.06.2016)
Published in Journal of cystic fibrosis (01.06.2016)
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Journal Article
Mosaic maternal uniparental isodisomy for chromosome 7q21-qter
Reboul, M-P, Tandonnet, O, Biteau, N, Belet-de Putter, C, Rebouissoux, L, Moradkhani, K, Vu, PY, Saura, R, Arveiler, B, Lacombe, D, Taine, L, Iron, A
Published in Clinical genetics (01.09.2006)
Published in Clinical genetics (01.09.2006)
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Journal Article
WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database
Theze, C, Bareil, C, Audrézet, M.-P, Duguépéroux, I, Férec, C, Girodon, E, de Becdelièvre, A, Bienvenu, T, Malinge, M.-C, Reboul, M.-P, Fergelot, P, Lalau, G, Fresquet, F, Kitzis, A, Gaston, V, Bieth, E, Claustres, M, Des Georges, M
Published in Journal of cystic fibrosis (01.06.2012)
Published in Journal of cystic fibrosis (01.06.2012)
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Journal Article
C035 DNA vaccination as immunotherapy adjuvant in MDS
Padua, R, Le Pogam, C, Beurlet, S, Reboul, M, Krief, P, West, R, Pla, M, Charron, D, Chomienne, C
Published in Leukemia research (01.05.2009)
Published in Leukemia research (01.05.2009)
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UMD- CFTR -France: a model of national database for collection and analysis of extensive molecular data in CF and CFTR -related diseases ( CFTR -RD)
Bareil, C, Thèze, C, Audrezet, M.-P, Bienvenu, T, Girodon, E, Gaston, V, Reboul, M.-P, Fresquet, F, Leclerc, J, Malinge, M.-C, des Georges, M, Claustres, M
Published in Journal of cystic fibrosis (2010)
Published in Journal of cystic fibrosis (2010)
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Journal Article
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients
Reboul, M P, Bieth, E, Fayon, M, Biteau, N, Barbier, R, Dromer, C, Desgeorges, M, Claustres, M, Bremont, F, Lacombe, D, Iron, A
Published in Journal of medical genetics (01.11.2002)
Published in Journal of medical genetics (01.11.2002)
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Journal Article
Disruption of T cell regulatory pathways is necessary for immunotherapeutic cure of T cell acute lymphoblastic leukemia in mice
Fiorentino, S, Chopin, M, Dastot, H, Boissel, N, Reboul, M, Legrès, L, Janin, A, Aplan, P, Sigaux, F, Regnault, Armelle
Published in European cytokine network (Montrouge) (01.12.2005)
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Published in European cytokine network (Montrouge) (01.12.2005)
Journal Article
A new method for space charge measurements in dielectric films for power capacitors
Reboul, J.M., Cherifi, A., Carin, R.
Published in IEEE transactions on dielectrics and electrical insulation (01.10.2001)
Published in IEEE transactions on dielectrics and electrical insulation (01.10.2001)
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Journal Article
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma
Sperelakis‐Beedham, Brian, Lopez, Maureen, Bourrat, Emmanuelle, Gaitch, Natacha, Houriez, Florence, Martinez, Brigitte, Fajac, Isabelle, Burgel, Pierre‐Régis, Hickman, Geoffroy, Audrézet, Marie‐Pierre, Gonde, Delphine, Cabet, Faiza, Gerfaud‐Valentin, Mathieu, Nove‐Josserand, Raphaele, Raynal, Caroline, Pagin, Adrien, Reboul, Marie‐Pierre, Becdelièvre, Alix, Bienvenu, Thierry, Callebaut, Isabelle, Girodon, Emmanuelle
Published in Journal of the European Academy of Dermatology and Venereology (01.05.2023)
Published in Journal of the European Academy of Dermatology and Venereology (01.05.2023)
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Journal Article
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.
Published in Journal of cystic fibrosis (01.06.2022)
Published in Journal of cystic fibrosis (01.06.2022)
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Journal Article
Aluminium alloy corrosion detection by magnetic measurements
ANDRIEU, C, DALARD, F, RAMEAU, J. J, ALCOUFFE, F, REBOUL, M
Published in Journal of materials science (15.06.1998)
Published in Journal of materials science (15.06.1998)
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