Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease
FAJAC, I, VIEL, M, GAITCH, N, HUBERT, D, BIENVENU, T
Published in The European respiratory journal (01.09.2009)
Published in The European respiratory journal (01.09.2009)
Get full text
Journal Article
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.
Published in Journal of cystic fibrosis (01.06.2018)
Published in Journal of cystic fibrosis (01.06.2018)
Get full text
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)
Get full text
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)
Get full text
Journal Article