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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 DNAH7Wilken, 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 clearance30-62%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 Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and BronchiectasisDougherty, 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 分享 收藏 Optimizing the diagnostic approach for Primary Ciliary Dyskinesia with normal ultrastructureRaidt, 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 Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal UltrastructureRaidt, 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-correlationsRaidt, 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 分享 收藏 Motility of efferent duct cilia aids passage of sperm cells through the male reproductive systemAprea, 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 The BEAT-PCD (Better Experimental Approaches to Treat Primary Ciliary Dyskinesia) Clinical Research CollaborationGoutaki, Myrofora; Crowley, Suzanne; Dehlink, Eleonora; Gaupmann, Rene; Horton, Katie L.; Kouis, Panayiotis; Lam, Yin Ting; Loges, Niki T.; Lucas, Jane S.; Roehmel, Jobst F.; Shoemark, Amelia 分享 收藏 CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis moduleDougherty, Gerard W.; Mizuno, Katsutoshi; Nothe-Menchen, Tabea; Ikawa, Yayoi; Boldt, Karsten; Ta-Shma, Asaf; Aprea, Isabella; Minegishi, Katsura; Pang, Yuan-Ping; Pennekamp, Petra; Loges, Niki T.; Raidt, Johanna; Hjeij, Rim; Wallmeier, Julia; Mussaffi, Huda; Perles, Zeev; Elpeleg, Orly; Rabert, Franziska; Shiratori, Hidetaka; Letteboer, Stef J.; Horn, Nicola; Young, Samuel; Strunker, Timo; Stumme, Friederike; Werner, Claudius; Olbrich, Heike; Takaoka, Katsuyoshi; Ide, Takahiro; Twan, Wang Kyaw; Biebach, Luisa; Grosse-Onnebrink, Jorg; Klinkenbusch, Judith A.; Praveen, Kavita; Bracht, Diana C.; Hoben, Inga M.; Junger, Katrin; Gutzlaff, Jana; Cindric, Sandra; Aviram, Micha; Kaiser, Thomas; Memari, Yasin; Dzeja, Petras P.; Dworniczak, Bernd; Ueffing, Marius; Roepman, Ronald; Bartscherer, Kerstin; Katsanis, Nicholas; Davis, Erica E.; Amirav, Israel; Hamada, Hiroshi; Omran, Heymut 分享 收藏 SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia DiagnosticsCindric, Sandra; Dougherty, Gerard W.; Olbrich, Heike; Hjeij, Rim; Loges, Niki Tomas; Amirav, Israel; Philipsen, Maria C.; Marthin, June K.; Nielsen, Kim G.; Sutharsan, Sivagurunathan; Raidt, Johanna; Werner, Claudius; Pennekamp, Petra; Dworniczak, Bernd; Omran, Heymut 分享 收藏 Genetic profile, nasal Nitric Oxide and age at diagnosis in 60 Danish PCD patientsMarthin, June Kehlet; Philipsen, Maria Charlotte; Duno, Morten; Omran, Heymut; Olbrich, Heike; Pennekamp, Petra; Loges, Niki Tomas; Edelbusch, Christine; Nielsen, Kim Gjerum 分享 收藏 Randomization of Left-Right Asymmetry and Congenital Heart Defects The Role of DNAH5 in Humans and MiceNoethe-Menchen, Tabea; Wallmeier, Julia; Pennekamp, Petra; Hoeben, Inga M.; Olbrich, Heike; Loges, Niki T.; Raidt, Johanna; Dougherty, Gerard W.; Hjeij, Rim; Dworniczak, Bernd; Omran, Heymut; Amirav, Israel; Biebach, Luisa; Fabricius, Dorit; Griese, Matthias; Grosse-Onnebrink, Joerg; Haeffner, Karsten; Hector, Andreas; Jung, Andreas; Kaiser-Labusch, Petra; Kaiser, Thomas; Kessler, Christina; Kitz, Richard; Knowles, Michael R.; Koerner-Rettberg, Cordula; Kristoffersson, Ulf; Leigh, Margaret W.; Mertsch, Pontus; Mischo, Bernhard; Nielsen, Kim G.; Poeta, Marco; Rietschel, Ernst; Roth, Samra; Santamaria, Francesca; Schmalstieg, Christian; Schmidts, Miriam; Schwarz, Carsten; Schwerk, Nicolaus; Seithe, Horst; Tebbe, Johannes; Werner, Claudius; Zariwala, Maimoona A. 分享 收藏 De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body AsymmetryWallmeier, Julia; Frank, Diana; Shoemark, Amelia; Noethe-Menchen, Tabea; Cindric, Sandra; Olbrich, Heike; Loges, Niki T.; Aprea, Isabella; Dougherty, Gerard W.; Pennekamp, Petra; Kaiser, Thomas; Mitchison, Hannah M.; Hogg, Claire; Carr, Siobhan B.; Zariwala, Maimoona A.; Ferkol, Thomas; Leigh, Margaret W.; Davis, Stephanie D.; Atkinson, Jeffrey; Dutcher, Susan K.; Knowles, Michael R.; Thiele, Holger; Altmueller, Janine; Krenz, Henrike; Woeste, Marius; Brentrup, Angela; Ahrens, Frank; Vogelberg, Christian; Morris-Rosendahl, Deborah J.; Omran, Heymut 分享 收藏 Severe pulmonary disease in an adult primary ciliary dyskinesia population in BrazilKowal Olm, Mary Anne; Lima Marson, Fernando Augusto; Athanazio, Rodrigo Abensur; Nakagawa, Naomi Kondo; Macchione, Mariangela; Loges, Niki Tomas; Omran, Heymut; Rached, Samia Zahi; Bertuzzo, Carmen Silvia; Stelmach, Rafael; Nascimento Saldiva, Paulo Hilario; Ribeiro, Jose Dirceu; Jones, Marcus Herbert; Mauad, Thais 分享 收藏 Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating DefectsLoges, Niki T.; Antony, Dinu; Maver, Ales; Deardorff, Matthew A.; Gulec, Elif Yylmaz; Gezdirici, Alper; Noethe-Menchen, Tabea; Hoeben, Inga M.; Jelten, Lena; Frank, Diana; Werner, Claudius; Tebbe, Johannes; Wu, Kaman; Goldmuntz, Elizabeth; Cuturilo, Goran; Krock, Bryan; Ritter, Alyssa; Hjeij, Rim; Bakey, Zeineb; Pennekamp, Petra; Dworniczak, Bernd; Brunner, Han; Peterlin, Borut; Tanidir, Cansaran; Olbrich, Heike; Omran, Heymut; Schmidts, Miriam 分享 收藏 分享 收藏 
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