未登录 Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public network 全国范围内排除性无创产前诊断在单基因病中的应用：法国公共网络九年的活动与性能分析 Labarthe, Adrien; Doppler, Solene; Audrezet, Marie-Pierre; Bienvenu, Thierry; Couque, Nathalie; Defer, Ines; Gravrand, Victor; Leturcq, France; Mansard, Luke; Masson, Emmanuelle; Boimard, Lucie Orhant; Vaucouleur, Nicolas; Vincent, Marie-Claire; Verebi, Camille; Nectoux, Juliette 分享 收藏
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Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140 由单等位基因致病性变异引起的IFT140非典型常染色体显性多囊肾病临床谱与预后 Zagorec, N; Calamel, A; Delaporte, M; Olinger, E; Orr, S; Sayer, JA; Pillay, VG; Denommé-Pichon, AS; Mau-Them, FT; Nambot, S; Faivre, L; Ars, E; Torra, R; Ong, ACM; Devuyst, O; Perico, N; Després, AM; Lemoine, H; de Fallois, J; Brousse, R; Hummel, A; Knebelmann, B; Maisonneuve, N; Halbritter, J; Le Meur, Y; Audrézet, MP; Cornec-Le Gall, E 分享 收藏
Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept 来自患者尿细胞的靶向RNAseq以验证常染色体显性多囊肾病基因中的致病性非编码变异: 概念证明 Dorval, Guillaume; Le Gac, Gerald; Moriniere, Vincent; Ka, Chandran; Goursaud, Claire; Knebelmann, Bertrand; Marijon, Pierre; Nambot, Sophie; Cagnard, Nicolas; Nitschke, Patrick; Michel-Calemard, Laurence; Audrezet, Marie-Pierre; Heidet, Laurence 分享 收藏
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease Schoenauer, Ria; Sierks, Dana; Boerrigter, Melissa; Jawaid, Tabinda; Caroff, Lea; Audrezet, Marie -Pierre; Friedrich, Anja; Shaw, Melissa; Degenhardt, Jan; Forberger, Mirjam; de Fallois, Jonathan; Blaeker, Hendrik; Bergmann, Carsten; Goediker, Juliana; Schindler, Philipp; Schlevogt, Bernhard; Mueller, Roman -U.; Berg, Thomas; Patterson, Ilse; Griffiths, William J.; Sayer, John A.; Popp, Bernt; Torres, Vicente E.; Hogan, Marie C.; Somlo, Stefan; Watnick, Terry J.; Nevens, Frederik; Besse, Whitney; Gall, Emilie Cornec-Le; Harris, Peter C.; Drenth, Joost P. H.; Halbritter, Jan 分享 收藏
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-Regis; Hickman, Geoffroy; Audrezet, Marie-Pierre; Gonde, Delphine; Cabet, Faiza; Gerfaud-Valentin, Mathieu; Nove-Josserand, Raphaele; Raynal, Caroline; Pagin, Adrien; Reboul, Marie-Pierre; de Becdelievre, Alix; Bienvenu, Thierry; Callebaut, Isabelle; Girodon, Emmanuelle 分享 收藏
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis Lemoine, Hugo; Raud, Loann; Foulquier, Francois; Sayer, John A.; Lambert, Baptiste; Olinger, Eric; Lefevre, Siriane; Knebelmann, Bertrand; Harris, Peter C.; Trouve, Pascal; Despres, Aurore; Duneau, Gabrielle; Matignon, Marie; Poyet, Anais; Jourde-Chiche, Noemie; Guerrot, Dominique; Lemoine, Sandrine; Seret, Guillaume; Barroso-Gil, Miguel; Bingham, Coralie; Gilbert, Rodney; Le Meur, Yannick; Audrezet, Marie-Pierre; Cornec-Le Gall, Emilie 分享 收藏
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases 大量严重肾脏疾病胎儿的靶向下一代测序 Jordan, Penelope; Dorval, Guillaume; Arrondel, Christelle; Moriniere, Vincent; Tournant, Carole; Audrezet, Marie-Pierre; Michel-Calemard, Laurence; Putoux, Audrey; Lesca, Gaethan; Labalme, Audrey; Whalen, Sandra; Loeuillet, Laurence; Martinovic, Jelena; Attie-Bitach, Tania; Bessieres, Bettina; Schaefer, Elise; Scheidecker, Sophie; Lambert, Laetitia; Beneteau, Claire; Patat, Olivier; Boute-Benejean, Odile; Molin, Arnaud; Guimiot, Fabien; Fontanarosa, Nicolas; Nizon, Mathilde; Lefebvre, Mathilde; Jeanpierre, Cecile; Saunier, Sophie; Heidet, Laurence 分享 收藏
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype 单等位基因IFT140致病变异是常染色体显性多囊肾谱系表型的重要原因 Senum, Sarah R.; Li, Ying (Sabrina) M.; Benson, Katherine A.; Joli, Giancarlo; Olinger, Eric; Lavu, Sravanthi; Madsen, Charles D.; V. Gregory, Adriana; Neatu, Ruxandra; Kline, Timothy L.; Audrezet, Marie -Pierre; Outeda, Patricia; Nau, Cherie B.; Meijer, Esther; Ali, Hamad; Steinman, Theodore I.; Mrug, Michal; Phelan, Paul J.; Watnick, Terry J.; Peters, Dorien J. M.; Ong, Albert C. M.; Conlon, Peter J.; Perrone, Ronald D.; Cornec-Le Gall, Emilie; Hogan, Marie C.; Torres, Vicente E.; Saver, John A.; Harris, Peter C. 分享 收藏
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Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease Huynh, Vinh T.; Audrezet, Marie-Pierre; Sayer, John A.; Ong, Albert C.; Lefevre, Siriane; Le Brun, Valoris; Despres, Aurore; Senum, Sarah R.; Chebib, Fouad T.; Barroso-Gil, Miguel; Patel, Chirag; Mallett, Andrew J.; Goel, Himanshu; Mallawaarachchi, Amali C.; Van Eerde, Albertien M.; Ponlot, Eleonore; Kribs, Marc; Le Meur, Yannick; Harris, Peter C.; Cornec-Le Gall, Emilie 分享 收藏
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018) Leman, Raphael; Gaildrat, Pascaline; Le Gac, Gerald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M.; Boutry-Kryza, Nadia; Leone, Melanie; Mazoyer, Sylvie; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bressac-de Paillerets, Brigitte; Wappenschmidt, Barbara; Rossing, Maria; Muller, Danielle; Bourdon, Violaine; Revillon, Francoise; Parsons, Michael T.; Rousselin, Antoine; Davy, Gregoire; Castelain, Gaia; Castera, Laurent; Sokolowska, Joanna; Coulet, Florence; Delnatte, Capucine; Ferec, Claude; Spurdle, Amanda B.; Martins, Alexandra; Krieger, Sophie; Houdayer, Claude 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
Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients Kerschner, Jenny L.; Ghosh, Sujana; Paranjapye, Alekh; Cosme, Wilmel R.; Audrezet, Marie-Pierre; Nakakuki, Miyuki; Ishiguro, Hiroshi; Ferec, Claude; Rommens, Johanna; Harris, Ann 分享 收藏
Large phenotypic spectrum associated with two new deep intronic variants on the CFTR gene Bergougnoux, Anne; Deletang, Karine; Varilh, Jessica; Houriez, Florence; Altieri, Jean-Pierre; Koenig, Michel; Ferec, Claude; Mireille, Claustres; Bienvenu, Thierry; Audrezet, Marie-Pierre; Pagin, Adrien; Girodon, Emmanuelle; Raynal, Caroline; Taulan-Cadars, Magali 分享 收藏
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018) Leman, Raphael; Gaildrat, Pascaline; Gac, Gerald L.; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M.; Boutry-Kryza, Nadia; Leone, Melanie; Mazoyer, Sylvie; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bressac-de Paillerets, Brigitte; Wappenschmidt, Barbara; Rossing, Maria; Muller, Danielle; Bourdon, Violaine; Revillon, Francoise; Parsons, Michael T.; Rousselin, Antoine; Davy, Gregoire; Castelain, Gaia; Castera, Laurent; Sokolowska, Joanna; Coulet, Florence; Delnatte, Capucine; Ferec, Claude; Spurdle, Amanda B.; Martins, Alexandra; Krieger, Sophie; Houdayer, Claude 分享 收藏
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