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Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia 致病性KIAA0586/TALPID3变异与初级纤毛和运动性纤毛缺陷相关 Taudien, Jacqueline E.; Bracht, Diana; Olbrich, Heike; Swirski, Sebastian; van der Zwaag, Bert; Moeller, Maike; Lucke, Thomas; Teig, Norbert; Lindberg, Ulrika; Wohlgemuth, Kai; Wallmeier, Julia; Blanque, Anja; Gatsogiannis, Christos; George, Sebastian; Jueschke, Christoph; Owczarek-Lipska, Marta; Veer, Dorothee; Kroes, Hester Y.; Valente, Enza Maria; Korenke, G. Christoph; Omran, Heymut; Neidhardt, John 分享 收藏
The international registry for primary ciliary dyskinesia reveals regional variation of genotypes and significant genotype-phenotype correlations 国际原发性纤毛运动障碍登记处揭示了基因型的区域差异和显着的基因型-表型相关性 Raidt, Johanna; Riepenhausen, Sarah; Amirav, Israel; Athanazio, Rodrigo A.; Aviram, Micha; Balinotti, Juan E.; Bar-On, Ophir; Bode, Sebastian Fn; Boon, Mieke; Borrelli, Melissa; Carr, Siobhan B.; Crowley, Suzanne; Dehlink, Eleonora; Diepenhorst, Sandra; Durdik, Peter; Dworniczak, Bernd; Emiralioglu, Nagehan; Erdem, Ela; Fonnesu, Rossella; Gracci, Serena; Grosse-Onnebrink, Joerg; Gwozdziewicz, Karolina; Haarman, Eric G.; Hansen, Christine R.; Hogg, Claire; Holgersen, Mathias G.; Julian, Varghese; Kerem, Eitan; Korner, Robert W.; Kotz, Karsten; Kouis, Panayiotis; Loebinger, Michael R.; Lorent, Natalie; Lucas, Jane S.; Maj, Debora; Mall, Marcus A.; Marthin, June K.; Martinu, Vendula; Mazurek, Henryk; Mitchison, Hannah M.; Noethe-Menchen, Tabea; Olbrich, Heike; Ozcelik, Ugur; Pennekamp, Petra; Pifferi, Massimo; Pogorzelski, Andrzej; Ringshausen, Felix C.; Roehmel, Jobst F.; Rovira-Amigo, Sandra; Rumman, Nisreen; Schlegtendal, Anne; Shoemark, Amelia; Kennelly, Synne Sperstad; Staar, Ben; Sutharsan, Sivagurunathan; Thomas, Simon; Ullmann, Nicola; Von Hardenberg, Sandra; Walker, Woolf; Wetzke, Martin; Witt, Michal; Yiallouros, Panayiotis; Zietkiewicz, Ewa; Nielsen, Kim G.; Omran, Heymut 分享 收藏
Late Breaking Abstract - Recessively inherited deficiency of secreted WFDC2 (HE4) causes nasal polyposis and bronchiectasis 晚期研究摘要-分泌型WFDC2 (HE4) 隐性遗传缺陷导致鼻息肉和支气管扩张 Dougherty, Gerard; Ostrowski, Lawrence E.; Noethe-Menchen, Tabea; Raidt, Johanna; Schramm, Andre; Olbrich, Heike; Yin, Weining; Sears, Patrick R.; Dang, Hong; Smith, Amanda J.; Beule, Achim G.; Hjeij, Rim; Rutjes, Niels; Haarman, Eric G.; Maas, Saskia M.; Ferkol, Thomas W.; Noone, Peadar G.; Olivier, Kenneth N.; Bracht, Diana C.; Barbry, Pascal; Zaragosi, Laure-Emmanuelle; Fierville, Morgane; Kliesch, Sabine; Wohlgemuth, Kai; Koenig, Julia; George, Sebastian; Loges, Niki; Ceppe, Agathe; Markovetz, Matthew R.; Luo, Hong; Guo, Ting; Rizk, Hoda; Eldesoky, Tarek; Dahlke, Katrin; Boldt, Karsten; Ueffing, Marius; Hill, David B.; Pang, Yuan-Ping; Knowles, Michael R.; Zariwala, Maimoona A.; Omran, Heymut 分享 收藏
Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7 Wilken, Alina; Hoeben, Inga Marlena; Wolter, Alexander; Loges, Niki Tomas; Olbrich, Heike; Aprea, Isabella; Dworniczak, Bernd; Raidt, Johanna; Omran, Heymut 分享 收藏
A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance 30-62%的功能性多纤毛气道细胞的范围足以维持纤毛气道清除。 Loges, Niki T.; Marthin, June Kehlet; Raidt, Johanna; Olbrich, Heike; Hoeben, Inga M.; Cindric, Sandra; Bracht, Diana; Rieck, Cynthia; George, Sebastian; Kloth, Tim Luis; Wohlgemuth, Kai; Pennekamp, Petra; Dworniczak, Bernd; Holgersen, Mathias G.; Roemel, Jobst; Schmalstieg, Christian; Aprea, Isabella; Mortensen, Jann; Nielsen, Kim G. 分享 收藏
Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement Hjeij, Rim; Leslie, Joseph; Rizk, Hoda; Dworniczak, Bernd; Olbrich, Heike; Raidt, Johanna; Bode, Sebastian Felix Nepomuk; Gardham, Alice; Stals, Karen; Al-Haggar, Mohammad; Osman, Engy; Crosby, Andrew; Eldesoky, Tarek; Baple, Emma; Omran, Heymut 分享 收藏
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis Dougherty, Gerard W.; Ostrowski, Lawrence E.; Noethe-Menchen, Tabea; Raidt, Johanna; Schramm, Andre; Olbrich, Heike; Yin, Weining; Sears, Patrick R.; Dang, Hong; Smith, Amanda J.; Beule, Achim G.; Hjeij, Rim; Rutjes, Niels; Haarman, Eric G.; Maas, Saskia M.; Ferkol, Thomas W.; Noone, Peadar G.; Olivier, Kenneth N.; Bracht, Diana C.; Barbry, Pascal; Zaragosi, Laure-Emmanuelle; Fierville, Morgane; Kliesch, Sabine; Wohlgemuth, Kai; Koenig, Julia; George, Sebastian; Loges, Niki T.; Ceppe, Agathe; Markovetz, Matthew R.; Luo, Hong; Guo, Ting; Rizk, Hoda; Eldesoky, Tarek; Dahlke, Katrin; Boldt, Karsten; Ueffing, Marius; Hill, David B.; Pang, Yuan-Ping; Knowles, Michael R.; Zariwala, Maimoona A.; Omran, Heymut 分享 收藏
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Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia Hjeij, Rim; Aprea, Isabella; Poeta, Marco; Noethe-Menchen, Tabea; Bracht, Diana; Raidt, Johanna; Honecker, Barbara I.; Dougherty, Gerard W.; Olbrich, Heike; Schwartz, Oliver; Keller, Ulrike; Nuesse, Harald; Diderich, Karin E. M.; Vogelberg, Christian; Santamaria, Francesca; Omran, Heymut 分享 收藏
Optimizing the diagnostic approach for Primary Ciliary Dyskinesia with normal ultrastructure Raidt, J.; Krenz, H.; Tebbe, J.; Grosse-Onnebrink, J.; Olbrich, H.; Loges, N. T.; Biebach, L.; Schmalstieg, C.; Kessler, C.; Wallmeier, J.; Dworniczak, B.; Pennekamp, P.; Dugas, M.; Werner, C.; Omran, H. 分享 收藏
CFAP74-mutations as cause of Primary Ciliary Dyskinesia (PCD): Clinical presentation and diagnostic challenges Biebach, L.; Cindric, S.; Koenig, J.; Aprea, I.; Dougherty, G.; Raidt, J.; Bracht, D.; Ruppel, R.; Schreiber, J.; Hjeij, R.; Olbrich, H.; Omran, H. 分享 收藏
Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure Raidt, Johanna; Krenz, Henrike; Tebbe, Johannes; Grosse-Onnebrink, Joerg; Olbrich, Heike; Loges, Niki Tomas; Biebach, Luisa; Schmalstieg, Christian; Kessler, Christina; Wallmeier, Julia; Dworniczak, Bernd; Pennekamp, Petra; Dugas, Martin; Werner, Claudius; Omran, Heymut 分享 收藏
The international primary ciliary dyskinesia (PCD) registry reports genotype/phenotype-correlations Raidt, Johanna; Pennekamp, Petra; Riepenhausen, Sarah; Krenz, Henrike; Helms, Simone; Nothe-Menchen, Tabea; Dworniczak, Bernd; Olbrich, Heike; Loges, Niki T.; Grosse-Onnebrink, Jorg; Holgersen, Mathias G.; Marthin, June K.; Nielsen, Kim G.; Dugas, Martin; Omran, Heymut 分享 收藏
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Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency 人类ZNFX1缺乏症的多系统炎症和对病毒感染的易感性 Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J.; Prader, Seraina; Gao, Xianfei; Schuch, Luise A.; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T.; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D.; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klambt, Verena; Soliman, Neveen A.; von Hardenberg, Sandra; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Haffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Gungor, Tayfun; Buckley, Michael F.; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm; Reu-Hofer, Simone; Moll, Solange; Weber, Achim; Kaur, Hundeep; Ehl, Stephan; Hiller, Sebastian; Geha, Raif; Roscioli, Tony; Griese, Matthias; Schmid, Jana Pachlopnik 分享 收藏
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly Wallmeier, Julia; Bracht, Diana; Alsaif, Hessa S.; Dougherty, Gerard W.; Olbrich, Heike; Cindric, Sandra; Dzietko, Mark; Heyer, Christoph; Teig, Norbert; Thiels, Charlotte; Faqeih, Eissa; Al-Hashim, Aqeela; Khan, Sameena; Mogarri, Ibrahim; Almannai, Mohammed; Al Otaibi, Wadha; Alkuraya, Fowzan S.; Koerner-Rettberg, Cordula; Omran, Heymut 分享 收藏
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system Aprea, Isabella; Noethe-Menchen, Tabea; Dougherty, Gerard W.; Raidt, Johanna; Loges, Niki T.; Kaiser, Thomas; Wallmeier, Julia; Olbrich, Heike; Struenker, Timo; Kliesch, Sabine; Pennekamp, Petra; Omran, Heymut 分享 收藏
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