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收藏Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies
Dahmer-Heath, Mareike; Gerss, Joachim; Fliser, Danilo; Liebau, Max Christoph; Speer, Thimoteus; Telgmann, Anna-Katharina; Burgmaier, Kathrin; Pennekamp, Petra; Pape, Lars; Schaefer, Franz; Konrad, Martin; Koenig, Jens Christian 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 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 Refining Kidney Survival in 383 Genetically Characterized Patients With NephronophthisisKoenig, Jens Christian; Karsay, Rebeka; Gerss, Joachim; Schlingmann, Karl-Peter; Dahmer-Heath, Mareike; Telgmann, Anna-Katharina; Kollmann, Sabine; Ariceta, Gema; Gillion, Valentine; Bockenhauer, Detlef; Bertholet-Thomas, Aurelia; Mastrangelo, Antonio; Boyer, Olivia; Lilien, Marc; Decramer, Stephane; Schanstra, Joost P.; Pohl, Martin; Schild, Raphael; Weber, Stefanie; Hoefele, Julia; Drube, Jens; Cetiner, Metin; Hansen, Matthias; Thumfart, Julia; Toenshoff, Burkhard; Habbig, Sandra; Liebau, Max Christoph; Bald, Martin; Bergmann, Carsten; Pennekamp, Petra; Konrad, Martin 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 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 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 Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathiesDahmer-Heath, Mareike; Schriever, Valentin; Kollmann, Sabine; Schleithoff, Carolin; Titieni, Andrea; Cetiner, Metin; Patzer, Ludwig; Toenshoff, Burkhard; Hansen, Matthias; Pennekamp, Petra; Gerss, Joachim; Konrad, Martin; Koenig, Jens 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 Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesisBurkhalter, Martin D.; Sridhar, Arthi; Sampaio, Pedro; Jacinto, Raquel; Burczyk, Martina S.; Donow, Cornelia; Angenendt, Max; Hempel, Maja; Walther, Paul; Pennekamp, Petra; Omran, Heymut; Lopes, Susana S.; Ware, Stephanie M.; Philipp, Melanie 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 
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