未登录 Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia Thomas, Lucie; Cuisset, Laurence; Papon, Jean-Francois; Tamalet, Aline; Pin, Isabelle; Abou Taam, Rola; Faucon, Catherine; Montantin, Guy; Tissier, Sylvie; Duquesnoy, Philippe; Dastot-Le Moal, Florence; Copin, Bruno; Carion, Nathalie; Louis, Bruno; Chantot-Bastaraud, Sandra; Siffroi, Jean-Pierre; Mitri, Rana; Coste, Andre; Escudier, Estelle; Thouvenin, Guillaume; Amselem, Serge; Legendre, Marie 分享 收藏
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy Boursiera, Angele; Boudry, Augustin; Mitchella, Valerie; Loyens, Anne; Rives, Nathalie; Moerman, Alexandre; Thomas, Lucie; Escudier, Estelle; Toure, Aminata; Whitfield, Marjorie; Coutton, Charles; Martinez, Guillaume; Ray, Pierre F.; Kherraf, Zine-Eddine; Viville, Stephane; Legendre, Marie; Smol, Thomas; Robin, Geoffroy; Barbotin, Anne-Laure 分享 收藏
High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia Legendre, Marie; Thouvenin, Guillaume; Taytard, Jessica; Baron, Marguerite; Le Bourgeois, Muriel; Tamalet, Aline; Mani, Rahma; Jouvion, Gregory; Amselem, Serge; Escudier, Estelle; Beydon, Nicole 分享 收藏
Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study Alexandru, Mihaela; de Boissieu, Paul; Benoudiba, Farida; Moustarhfir, Malik; Kim, Sookyung; Bequignon, Emilie; Honore, Isabelle; Garcia, Gilles; Mitri-Frangieh, Rana; Legendre, Marie; Crestani, Bruno; Taille, Camille; Escudier, Estelle; Maitre, Bernard; Papon, Jean-Francois; Nevoux, Jerome 分享 收藏
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia Shoemark, Amelia; Rubbo, Bruna; Legendre, Marie; Fassad, Mahmoud R.; Haarman, Eric G.; Best, Sunayna; Bon, Irma C. M.; Brandsma, Joost; Burgel, Pierre-Regis; Carlsson, Gunnar; Carr, Siobhan B.; Carroll, Mary; Edwards, Matt; Escudier, Estelle; Honore, Isabelle; Hunt, David; Jouvion, Gregory; Loebinger, Michel R.; Maitre, Bernard; Morris-Rosendahl, Deborah; Papon, Jean-Francois; Parsons, Camille M.; Patel, Mitali P.; Thomas, N. Simon; Thouvenin, Guillaume; Walker, Woolf T.; Wilson, Robert; Hogg, Claire; Mitchison, Hannah M.; Lucas, Jane S. 分享 收藏
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Pathogenesis of chronic rhinosinusitis with nasal polyps: role of IL-6 in airway epithelial cell dysfunction Bequignon, Emilie; Mangin, David; Becaud, Justine; Pasquier, Jennifer; Angely, Christelle; Bottier, Mathieu; Escudier, Estelle; Isabey, Daniel; Filoche, Marcel; Louis, Bruno; Papon, Jean-Francois; Coste, Andre 分享 收藏
International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria) Shoemark, Amelia; Boon, Mieke; Brochhausen, Christoph; Bukowy-Bieryllo, Zuzanna; De Santi, Maria M.; Goggin, Patricia; Griffin, Paul; Hegele, Richard G.; Hirst, Robert A.; Leigh, Margaret W.; Lupton, Alison; MacKenney, Karen; Omran, Heymut; Pache, Jean-Claude; Pinto, Andreia; Reinholt, Finn P.; Schroeder, Josep; Yiallouros, Panayotis; Escudier, Estelle 分享 收藏
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella Thomas, Lucie; Bouhouche, Khaled; Whitfield, Marjorie; Thouvenin, Guillaume; Coste, Andre; Louis, Bruno; Szymanski, Claire; Bequignon, Emilie; Papon, Jean-Francois; Castelli, Manon; Lemullois, Michel; Dhalluin, Xavier; Drouin-Garraud, Valerie; Montantin, Guy; Tissier, Sylvie; Duquesnoy, Philippe; Copin, Bruno; Dastot, Florence; Couvet, Sandrine; Barbotin, Anne-Laure; Faucon, Catherine; Honore, Isabelle; Maitre, Bernard; Beydon, Nicole; Tamalet, Aline; Rives, Nathalie; Koll, France; Escudier, Estelle; Tassin, Anne-Marie; Toure, Aminata; Mitchell, Valerie; Amselem, Serge; Legendre, Marie 分享 收藏
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia Blanchon, Sylvain; Legendre, Marie; Bottier, Mathieu; Tamalet, Aline; Montantin, Guy; Collot, Nathalie; Faucon, Catherine; Dastot, Florence; Copin, Bruno; Clement, Annick; Filoche, Marcel; Coste, Andre; Amselem, Serge; Escudier, Estelle; Papon, Jean-Francois; Louis, Bruno 分享 收藏
International consensus guideline for reporting transmission electron microscopy results in the diagnosis of Primary Ciliary Dyskinesia Shoemark, Amelia; Boon, Mieke; Brochhausen, Christoph; Bukowy-Bieryllo, Zuzanna; De Santi, Maria Margherita; Goggin, Patricia; Griffin, Paul; Hegele, Richard G.; Hirst, Robert A.; Leigh, Margaret; Lupton, Alison; Mackenney, Karen; Omran, Heymut; Pache, Jean-Claude; Pinto, Andreia; Reinholt, Finn P.; Rutman, Andrew; Yiallouros, Panyiotis; Escudier, Estelle 分享 收藏
Follow-Up and Management of Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia: Review and Experience of Our Reference Centers Bequignon, Emilie; Dupuy, Laurence; Escabasse, Virginie; Zerah-Lancner, Francoise; Bassinet, Laurence; Honore, Isabelle; Legendre, Marie; du Mayne, Marie Devars; Crestani, Bruno; Escudier, Estelle; Coste, Andre; Papon, Jean-Francois; Maitre, Bernard 分享 收藏
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele Mani, Rahma; Belkacem, Sabrina; Soua, Zohra; Chantot, Sandra; Montantin, Guy; Tissier, Sylvie; Copin, Bruno; Bouguila, Jihene; Le Gouard, Nicolas Rive; Boughamoura, Lamia; Ben Ameur, Salma; Hachicha, Mongia; Boussoffara, Raoudha; Boussetta, Khadija; Hammouda, Samia; Bedoui, Abir; Besbes, Habib; Meddeb, Seif; Chraeit, Karima; Khlifa, Monia; Escudier, Estelle; Amselem, Serge; Mabrouk, Imed; Legendre, Marie 分享 收藏
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia Whitfield, Marjorie; Thomas, Lucie; Bequignon, Emilie; Schmitt, Alain; Stouvenel, Laurence; Montantin, Guy; Tissier, Sylvie; Duquesnoy, Philippe; Copin, Bruno; Chantot, Sandra; Dastot, Florence; Faucon, Catherine; Barbotin, Anne Laure; Loyens, Anne; Siffroi, Jean-Pierre; Papon, Jean-Francois; Escudier, Estelle; Amselem, Serge; Mitchell, Valerie; Toure, Aminata; Legendre, Marie 分享 收藏
Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia Bequignon, Emilie; Dupuy, Laurence; Zerah-Lancner, Francoise; Bassinet, Laurence; Honore, Isabelle; Legendre, Marie; du Mayne, Marie Devars; Escabasse, Virginie; Crestani, Bruno; Maitre, Bernard; Escudier, Estelle; Coste, Andre; Papon, Jean-Francois 分享 收藏
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance Bustamante-Marin, Ximena M.; Yin, Wei-Ning; Sears, Patrick R.; Werner, Michael E.; Brotslaw, Eva J.; Mitchell, Brian J.; Jania, Corey M.; Zeman, Kirby L.; Rogers, Troy D.; Herring, Laura E.; Refabert, Luc; Thomas, Lucie; Amselem, Serge; Escudier, Estelle; Legendre, Marie; Grubb, Barbara R.; Knowles, Michael R.; Zariwala, Maimoona A.; Ostrowski, Lawrence E. 分享 收藏
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia (vol 27, pg 1196, 2018) Lores, Patrick; Coutton, Charles; El Khouri, Elma; Stouvenel, Laurence; Givelet, Maelle; Thomas, Lucie; Rode, Baptiste; Schmitt, Alain; Louis, Bruno; Sakheli, Zeinab; Chaudhry, Marhaba; Fernandez-Gonzales, Angeles; Mitsialis, Alex; Dacheux, Denis; Wolf, Jean-Philippe; Papon, Jean-Francois; Gacon, Gerard; Escudier, Estelle; Arnoult, Christophe; Bonhivers, Melanie; Savinov, Sergey N.; Amselem, Serge; Ray, Pierre F.; Dulioust, Emmanuel; Toure, Aminata 分享 收藏
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus Fassad, Mahmoud R.; Shoemark, Amelia; Legendre, Marie; Hirst, Robert A.; Koll, France; le Borgne, Pierrick; Louis, Bruno; Daudvohra, Farheen; Patel, Mitali P.; Thomas, Lucie; Dixon, Mellisa; Burgoyne, Thomas; Hayes, Joseph; Nicholson, Andrew G.; Cullup, Thomas; Jenkins, Lucy; Carr, Siobhan B.; Aurora, Paul; Lemullois, Michel; Aubusson-Fleury, Anne; Papon, Jean-Francois; O'Callaghan, Christopher; Amselem, Serge; Hogg, Claire; Escudier, Estelle; Tassin, Anne-Marie; Mitchison, Hannah M. 分享 收藏
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Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia Lores, Patrick; Coutton, Charles; El Khouri, Elma; Stouvenel, Laurence; Givelet, Maelle; Thomas, Lucie; Rode, Baptiste; Schmitt, Alain; Louis, Bruno; Sakheli, Zeinab; Chaudhry, Marhaba; Fernandez-Gonzales, Angeles; Mitsialis, Alex; Dacheux, Denis; Wolf, Jean-Philippe; Papon, Jean-Francois; Gacon, Gerard; Escudier, Estelle; Arnoult, Christophe; Bonhivers, Melanie; Savinov, Sergey N.; Amselem, Serge; Ray, Pierre F.; Dulioust, Emmanuel; Toure, Aminata 分享 收藏
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