未登录 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.; Theze, C.; Ferec, C.; Le Gac, G.; 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.; Reboul, P.; Becq, F.; Fanen, P.; Mekki, C.; Audrezet, M. -P.; Girodon, E.; Raynal, C. 分享 收藏
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward Hatton, Aurelie; Bergougnoux, Anne; Zybert, Katarzyna; Chevalier, Benoit; Mesbahi, Myriam; Alteri, Jean Pierre; Walicka-Serzysko, Katarzyna; Postek, Magdalena; Taulan-Cadars, Magali; Edelman, Aleksander; Hinzpeter, Alexandre; Claustres, Mireille; Girodon, Emmanuelle; Raynal, Caroline; Sermet-Gaudelus, Isabelle; Sands, Dorota 分享 收藏
miRNA repertoires of cystic fibrosis ex vivo models highlight miR-181a and miR-101 that regulate WISP1 expression Pommier, Alexandra; Varilh, Jessica; Bleuse, Solenne; Deletang, Karine; Bonini, Jennifer; Bergougnoux, Anne; Brochiero, Emmanuelle; Koenig, Michel; Claustres, Mireille; Taulan-Cadars, Magali 分享 收藏
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders Sasorith, Souphatta; Baux, David; Bergougnoux, Anne; Paulet, Damien; Lahure, Alan; Bareil, Corinne; Taulan-Cadars, Magali; Roux, Anne-Francoise; Koenig, Michel; Claustres, Mireille; Raynal, Caroline 分享 收藏
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Functional characterization and phenotypic spectrum of three recurrent I Check for disease-causing deep intronic variants of the CFTR gene Bergougnoux, A.; Deletang, K.; Pommier, A.; Varilh, J.; Hpuriez, F.; Altieri, J. P.; Koenig, M.; Ferec, C.; Claustres, M.; Lalau, G.; Bienvenu, T.; Audrezet, M. P.; Pagin, A.; Girodon, E.; Raynal, C.; Taulan-Cadars, M. 分享 收藏
Dynamic changes of DNA methylation and lung disease in cystic fibrosis: lessons from a monogenic disease Magalhaes, Milena; Tost, Jorg; Pineau, Fanny; Rivals, Isabelle; Busato, Florence; Alary, Nathan; Mely, Laurent; Leroy, Sylvie; Murris, Marlene; Caimmi, Davide; Claustres, Mireille; Chiron, Raphael; De Sario, Albertina 分享 收藏
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes Zenagui, Reda; Lacourt, Delphine; Pegeot, Henri; Yauy, Kevin; Morales, Raul Juntas; Theze, Corine; Rivier, Francois; Cances, Claude; Sole, Guilhem; Renard, Dimitri; Walther-Louvier, Ulrike; Ferrer-Monasterio, Xavier; Espil, Caroline; Arne-Bes, Marie-Christine; Cintas, Pascal; Uro-Coste, Emmanuelle; Negrier, Marie-Laure Martin; Rigau, Valerie; Bieth, Eric; Goizet, Cyril; Claustres, Mireille; Koenig, Michel; Cossee, Mireille 分享 收藏
Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology Bergougnoux, Anne; D'Argenio, Valeria; Sollfrank, Stefanie; Verneau, Fanny; Telese, Antonella; Postiglione, Irene; Lackner, Karl J.; Claustres, Mireille; Castaldo, Giuseppe; Rossman, Heidi; Salvatore, Francesco; Raynal, Caroline 分享 收藏
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia Guissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir N.; Stamberger, Hannah; McWalter, Kirsty; Cho, Megan T.; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Ounap, Katrin; Schema, Lynn; Chiocchetti, Andreas G.; McDonald, Marie; de Bellescize, Julitta; Vincent, Marie; Van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine M.; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Sacoto, Maria J. Guillen; Safina, Nicole P.; Dubourg, Christele; Grote, Lauren; Carre, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-Francois; Wojcik, Monica H.; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; Van Paesschen, Wim; Al-Gazali, Lihadh; Al Shamsi, Aisha Mohamed; Claustres, Mireille; Pujol, Aurora; Sanders, Stephan J.; Rivier, Francois; Leboucq, Nicolas; Cogne, Benjamin; Sasorith, Souphatta; Sanlaville, Damien; Retterer, Kyle; Odent, Sylvie; Katsanis, Nicholas; Bezieau, Stephane; Koenig, Michel; Davis, Erica E.; Pasquier, Laurent; Kury, Sebastien 分享 收藏
Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service Girardet, Anne; Ishmukhametova, Aliya; Viart, Victoria; Plaza, Stephanie; Saguet, Florielle; Verriere, Garance; Hamamah, Samir; Coupier, Isabelle; Haquet, Emmanuelle; Anahory, Tal; Willems, Marjolaine; Claustres, Mireille 分享 收藏
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients Baux, D.; Vache, C.; Blanchet, C.; Willems, M.; Baudoin, C.; Moclyn, M.; Faugere, V.; Touraine, R.; Isidor, B.; Dupin-Deguine, D.; Nizon, M.; Vincent, M.; Mercier, S.; Calais, C.; Garcia-Garcia, G.; Azher, Z.; Lambert, L.; Perdomo-Trujillo, Y.; Giuliano, F.; Claustres, M.; Koenig, M.; Mondain, M.; Roux, A. F. 分享 收藏
The HDAC inhibitor SAHA does not rescue CFTR membrane expression in Cystic Fibrosis Bergougnoux, Anne; Petit, Aurelie; Knabe, Lucie; Bribes, Estelle; Chiron, Raphael; De Sario, Albertina; Claustres, Mireille; Molinari, Nicolas; Vachier, Isabelle; Taulan-Cadars, Magali; Bourdin, Arnaud 分享 收藏
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants Claustres, Mireille; Theze, Corinne; des Georges, Marie; Baux, David; Girodon, Emmanuelle; Bienvenu, Thierry; Audrezet, Marie-Pierre; Dugueperoux, Ingrid; Ferec, Claude; Lalau, Guy; Pagin, Adrien; Kitzis, Alain; Thoreau, Vincent; Gaston, Veronique; Bieth, Eric; Malinge, Marie-Claire; Reboul, Marie-Pierre; Fergelot, Patricia; Lemonnier, Lydie; Mekki, Chadia; Fanen, Pascale; Bergougnoux, Anne; Sasorith, Souphatta; Raynal, Caroline; Bareil, Corinne 分享 收藏
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Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation Guissart, C.; Dubucs, C.; Raynal, C.; Girardet, A.; Them, F. Tran Mau; Debant, V.; Rouzier, C.; Boureau-Wirth, A.; Haquet, E.; Puechberty, J.; Bieth, E.; Deguine, D. Dupin; Van Kien, P. Khau; Brechard, M. P.; Pritchard, V.; Koenig, M.; Claustres, M.; Vincent, M. C. 分享 收藏
DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis Magalhaes, Milena; Rivals, Isabelle; Claustres, Mireille; Varilh, Jessica; Thomasset, Melodie; Bergougnoux, Anne; Mely, Laurent; Leroy, Sylvie; Corvol, Harriet; Guillot, Loic; Murris, Marlene; Beyne, Emmanuelle; Caimmi, Davide; Vachier, Isabelle; Chiron, Raphael; De Sario, Albertina 分享 收藏
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Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias 在遗传性共济失调患者中，微型外显子组与基于阅读深度的拷贝数变异分析相结合 Marelli, Cecilia; Guissart, Claire; Hubsch, Cecile; Renaud, Mathilde; Villemin, Jean-Philippe; Larrieu, Lise; Charles, Perrine; Ayrignac, Xavier; Sacconi, Sabrina; Collignon, Patrick; Cuntz-Shadfar, Danielle; Perrin, Laurine; Benarrosh, Anelia; Degardin, Adrian; Lagha-Boukbiza, Ouhaid; Mutez, Eugenie; Carlander, Bertrand; Morales, Raul Juntas; Gonzalez, Victoria; Carra-Dalliere, Clarisse; Azakri, Souhayla; Mignard, Claude; Ollagnon, Elisabeth; Pageot, Nicolas; Chretien, Dominique; Geny, Christian; Azulay, Jean-Philippe; Tranchant, Christine; Claustres, Mireille; Labauge, Pierre; Anheim, Mathieu; Goizet, Cyril; Calvas, Patrick; Koenig, Michel 分享 收藏
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