未登录 Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome 改变的热休克蛋白-非肌球蛋白II相互作用驱动UNC45A c.710T>C变异在骨-耳-肝-肠综合征中的致病性 Waich, Stephanie; Kreidl, Karin; Vodopiutz, Julia; Demir, Arzu Meltem; Pollio, Adam R.; Dostal, Vojtech; Pfaller, Kristian; Parlato, Marianna; Cerf-Bensussan, Nadine; Adam, Ruediger; Vogel, Georg F.; Uhlig, Holm H.; Ruemmele, Frank M.; Mueller, Thomas; Hess, Michael W.; Janecke, Andreas R.; Huber, Lukas A.; Valovka, Taras 分享 收藏
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study Cavadias, Iphigenie; Viaud, Magali; Falampin, Marie; Cheikhelard, Alaa; Gueniche, Karinne; Ouallouche, Chloe; Samara-Boustani, Dinane; Bonnet, Damien; Bahi-Buisson, Nadia; Quartier-dit-Maire, Pierre; Hadj-Rabia, Smail; Heidet, Laurence; Allali, Slimane; de Lonlay, Pascale; Amiel, Jeanne; Nabbout, Rima; Moshous, Despina; Cormier-Daire, Valerie; Picard, Arnaud; Desguerre, Isabelle; Sermet-Gaudelus, Isabelle; Pinto, Graziella; Bremond-Gignac, Dominique; Ruemmele, Frank; Girard, Muriel; Abadie, Veronique; James, Syril; Harroche, Annie; Polak, Michel; Da Costa, Sabrina 分享 收藏
Combined plasma protein and memory T cell profiling discern IBD-patient-immunotypes related to intestinal disease and treatment outcomes Heredia, Maud; Charrout, Mohammed; Klomberg, Renz C. W.; Aardoom, Martine A.; Jongsma, Maria M. E.; Kemos, Polychronis; Hulleman-van Haaften, Danielle H.; Tuk, Bastiaan; van Berkel, Lisette A.; Folly, Brenda Bley; Calado, Beatriz; Nugteren, Sandrine; Simons-Oosterhuis, Ytje; Doukas, Michail; Sanders, Mathijs A.; van Beek, Gregory; Ruemmele, Frank M.; Croft, Nicholas M.; Mahfouz, Ahmed; Reinders, Marcel J. T.; Escher, Johanna C.; de Ridder, Lissy; Samsom, Janneke N. 分享 收藏
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Downregulation of V-ATPase V0 Sector Induces phy Independently of Apical Traf-ficking in the Mammalian Intestine Bidaud-Meynard, Aurelien; Bourdais, Anne; Nicolle, Ophelie; Duclos, Maela; Saleh, Jad; Ruemmele, Frank M.; Farin, Henner F.; Delacour, Delphine; Moshous, Despina; Michaux, Gregoire 分享 收藏
Improved Clinical Outcomes With Early Anti-Tumour Necrosis Factor Alpha Therapy in Children With Newly Diagnosed Crohn's Disease: Real-world Data from the International Prospective PIBD-SETQuality Inception Cohort Study Klomberg, Renz C. W.; van der Wal, Hella C.; Aardoom, Martine A.; Kemos, Polychronis; Rizopoulos, Dimitris; Ruemmele, Frank M.; Charrout, Mohammed; Escher, Hankje C.; Croft, Nicholas M.; de Ridder, Lissy 分享 收藏
Validation of predictive models for disease outcomes in paediatric ulcerative colitis: A multicentre prospective inception cohort Atia, Ohad; Klomberg, Renz C. W.; de Ridder, Lissy; Kemos, Polychronis; Ruemmele, Frank M.; Kang, Ben; Choi, Sujin; Choe, Byung-Ho; Kang, Youra; Shouval, Dror S.; Focht, Gili; Ledder, Oren; Lev-Tzion, Raffi; Carmon, Natalie; Berger, Tal David; Turner, Dan; Croft, Nicholas M.; Orlanski-Meyer, Esther 分享 收藏
Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy Charbit-Henrion, Fabienne; Haas, Manon; Chaussade, Stanislas; Cellier, Christophe; Cerf-Bensussan, Nadine; Malamut, Georgia; Khater, Sherine; Khiat, Anis; Cording, Sascha; Parlato, Marianna; Dragon-Durey, Marie-Agnes; Beuvon, Frederic; Brousse, Nicole; Terris, Benoit; Picard, Capucine; Fusaro, Mathieu; Rieux-Laucat, Frederic; Stolzenberg, Marie-Claude; Jannot, Anne-Sophie; Mathian, Alexis; Allez, Matthieu; Malphettes, Marion; Fieschi, Claire; Aubourg, Alexandre; Zallot, Camille; Roblin, Xavier; Abitbol, Vered; Belle, Arthur; Wils, Pauline; Cheminant, Morgane; Matysiak-Budnik, Tamara; Vuitton, Lucine; Pouderoux, Philippe; Abramowitz, Laurent; Castelle, Martin; Suarez, Felipe; Hermine, Olivier; Ruemmele, Frank; Mouthon, Luc 分享 收藏
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Development, Validation, and Evaluation of the Pediatric Inflammatory Crohn's Magnetic Resonance Enterography Index From the ImageKids Study 来自imagewids研究的小儿炎症性克罗恩磁共振肠造影指数的开发，验证和评估 Focht, Gili; Cytter-Kuint, Ruth; Greer, Mary-Louise C.; Pratt, Li-Tal; Castro, Denise A.; Church, Peter C.; Walters, Thomas D.; Hyams, Jeffrey; Navon, Dan; de Carpi, Javier Martin; Ruemmele, Frank; Russell, Richard K.; Gavish, Matan; Griffiths, Anne M.; Turner, Dan 分享 收藏
Paediatric Inflammatory Bowel Disease: A Multi-Stakeholder Perspective to Improve Development of Drugs for Children and Adolescents Croft, Nicholas M.; de Ridder, Lissy; Griffiths, Anne M.; Hyams, Jeffrey S.; Ruemmele, Frank M.; Turner, Dan; Cheng, Katharine; Lutsar, Irja; Greco, Marco; Golebiewska, Zuzanna; Laumond, Floriane; Cavaller-Bellaubi, Maria; Elgreey, Adam; Altepeter, Tara A.; Pallidis, Chrissi; Norga, Koen; Nelson, Robert; Crandall, Wallace; Vassal, Gilles 分享 收藏
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UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking Duclaux-Loras, Remi; Lebreton, Corinne; Berthelet, Jeremy; Charbit-Henrion, Fabienne; Nicolle, Ophelie; de Courtils, Celine Revenu; Waich, Stephanie; Valovka, Taras; Khiat, Anis; Rabant, Marion; Racine, Caroline; Guerrera, Ida Chiara; Baptista, Julia; Mahe, Maxime M.; Hess, Michael W.; Durel, Beatrice; Lefort, Nathalie; Banal, Celine; Parisot, Melanie; Talbotec, Cecile; Lacaille, Florence; Ecochard-Dugelay, Emmanuelle; Demir, Arzu Meltem; Vogel, Georg F.; Faivre, Laurence; Rodrigues, Astor; Fowler, Darren; Janecke, Andreas R.; Mueller, Thomas; Huber, Lukas A.; Rodrigues-Lima, Fernando; Ruemmele, Frank M.; Uhlig, Holm H.; Bene, Filippo Del; Michaux, Gregoire; Cerf-Bensussan, Nadine; Parlato, Marianna 分享 收藏
Pharmacokinetics, Safety and Efficacy of Intravenous Vedolizumab in Paediatric Patients with Ulcerative Colitis or Crohn's Disease: Results from the Phase 2 HUBBLE Study Hyams, Jeffrey S.; Turner, Dan; Cohen, Stanley A.; Szakos, Erzsebet; Kowalska-Duplaga, Kinga; Ruemmele, Frank; Croft, Nicholas M.; Korczowski, Bartosz; Lawrence, Promise; Bhatia, Siddharth; Kadali, Harisha; Chen, Chunlin; Sun, Wan; Rosario, Maria; Kabilan, Senthil; Treem, William; Rossiter, Guillermo; Lirio, Richard A. 分享 收藏
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Functional abdominal pain disorders and patient- and parent-reported outcomes in children with inflammatory bowel disease in remission Tran, Lea Chantal; Bridoux-Henno, Laure; Gastineau, Swellen; Dabadie, Alain; Carre, Emilie; Hugot, Jean-Pierre; Martinez-Vinson, Christine; Mosca, Alexis; Coopman, Stephanie; Lamireau, Thierry; Enaud, Raphael; Clouzeau, Haude; Bertrand, Valerie; Pigneur, Benedicte; Ruemmele, Frank; Degas, Vanessa; Breton, Anne; Mas, Emmanuel; Lacotte, Edouard; Chaillou-Legault, Emilie; Caron, Nicolas; Languepin, Jane; Willot, Stephanie; Bouazza, Ahlem; Spyckerelle, Claire; Dimitrov, Georges; Thomassin, Nadege; Djeddi, Djamal; Vanrenterghem, Audrey; Grandjean, Camille; Viala, Jerome; Dupont-Lucas, Claire 分享 收藏
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Efficacy and safety of adalimumab in paediatric patients with moderate-to-severe ulcerative colitis (ENVISION I): a randomised, controlled, phase 3 study Croft, Nicholas M.; Faubion, William A., Jr.; Kugathasan, Subra; Kierkus, Jaroslaw; Ruemmele, Frank M.; Shimizu, Toshiaki; Mostafa, Nael M.; Venetucci, Mary; Finney-Hayward, Tricia; Gonzalez, Yuri Sanchez; Bereswill, Mareike; Lazar, Andreas; Turner, Dan 分享 收藏
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