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)
Get full text
Journal Article
Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
Cassereau, J, Casasnovas, C, Gueguen, N, Malinge, M-C, Guillet, V, Reynier, P, Bonneau, D, Amati-Bonneau, P, Banchs, I, Volpini, V, Procaccio, V, Chevrollier, A
Published in Neurology (26.04.2011)
Published in Neurology (26.04.2011)
Get more information
Journal Article
Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene
Verny, C., Allain, P., Prudean, A., Malinge, M.-C., Gohier, B., Scherer, C., Bonneau, D., Dubas, F., Le Gall, D.
Published in European journal of neurology (01.12.2007)
Published in European journal of neurology (01.12.2007)
Get full text
Journal Article
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
Reynier, P, Amati-Bonneau, P, Verny, C, Olichon, A, Simard, G, Guichet, A, Bonnemains, C, Malecaze, F, Malinge, M C, Pelletier, J B, Calvas, P, Dollfus, H, Belenguer, P, Malthièry, Y, Lenaers, G, Bonneau, D
Published in Journal of medical genetics (01.09.2004)
Published in Journal of medical genetics (01.09.2004)
Get full text
Journal Article
Crystal structure of a double-stranded DNA containing a cisplatin interstrand cross-link at 1.63 Å resolution: Hydration at the platinated site
Coste, Franck, Malinge, Jean-Marc, Serre, Laurence, Leng, Marc, Zelwer, Charles, Shepard, William, Roth, Michel
Published in Nucleic acids research (15.04.1999)
Published in Nucleic acids research (15.04.1999)
Get full text
Journal Article
Aquagenic palmar keratoderma in a patient heterozygous for the mutation c.3197G>C in the CFTR gene
Nadal, M, Laudier, B, Malinge, M C, Binois, R, Estève, E
Published in Annales de dermatologie et de vénéréologie (01.03.2015)
Published in Annales de dermatologie et de vénéréologie (01.03.2015)
Get full text
Journal Article
Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults
Priou-Guesdon, M, Malinge, M.-C, Augusto, J.-F, Rodien, P, Subra, J.-F, Bonneau, D, Rohmer, V
Published in Annales d'endocrinologie (01.02.2010)
Published in Annales d'endocrinologie (01.02.2010)
Get full text
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)
Get full text
Journal Article
Severe episodes of extra cellular dehydration: an atypical adult presentation of cystic fibrosis
Augusto, J-F, Sayegh, J, Malinge, M-C, Illouz, F, Subra, J-F, Ducluzeau, P-H
Published in Clinical nephrology (01.04.2008)
Published in Clinical nephrology (01.04.2008)
Get more information
Journal Article
Hyperechogenic fetal bowel: A large French collaborative study of 682 cases
Simon-Bouy, B., Satre, V., Ferec, C., Malinge, M.C., Girodon, E., Denamur, E., Leporrier, N., Lewin, P., Forestier, F., Muller, F.
Published in American journal of medical genetics. Part A (01.09.2003)
Published in American journal of medical genetics. Part A (01.09.2003)
Get full text
Journal Article
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)
Get full text
Journal Article
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis
Verny, C, Amati-Bonneau, P, Letournel, F, Person, B, Dib, N, Malinge, M.-C, Slama, A, Le Maréchal, C, Ferec, C, Procaccio, V, Reynier, P, Bonneau, D
Published in Diabetes & metabolism (01.12.2008)
Published in Diabetes & metabolism (01.12.2008)
Get full text
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)
Get full text
Journal Article
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
Claustres, Mireille, Guittard, Caroline, Bozon, Dominique, Chevalier, Françoise, Verlingue, Claudine, Ferec, Claude, Girodon, Emanuelle, Cazeneuve, Cécile, Bienvenu, Thierry, Lalau, Guy, Dumur, Viviane, Feldmann, Delphine, Bieth, Eric, Blayau, Martine, Clavel, Christine, Creveaux, Isabelle, Malinge, Marie-Claire, Monnier, Nicole, Malzac, Perrine, Mittre, Hervé, Chomel, Jean-Claude, Bonnefont, Jean-Paul, Iron, Albert, Chery, Michèle, Georges, Marie Des
Published in Human mutation (01.08.2000)
Published in Human mutation (01.08.2000)
Get full text
Journal Article
Bilateral hand amyotrophy with PMP-22 gene deletion
Gochard, A., Guennoc, A. M., Praline, J., Malinge, M. C., De Toffol, B., Corcia, P.
Published in European journal of neurology (01.01.2007)
Published in European journal of neurology (01.01.2007)
Get full text
Journal Article
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)
Get full text
Journal Article
The Urodynamic Effects of Intravenous Opioids and Ketoprofen in Humans
Malinovsky, J.-M., Le Normand, L., Lepage, J.-Y., Malinge, M., Cozian, A., Pinaud, M., Buzelin, J.-M.
Published in Anesthesia and analgesia (01.08.1998)
Published in Anesthesia and analgesia (01.08.1998)
Get full text
Journal Article