Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Olbrich, Heike, Cremers, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmüller, Janine, Rommelmann, Frank, Omran, Heymut
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
OLBRICH, Heike, SCHMIDTS, Miriam, HURLES, Matthew E, CONSORTIUM, Ukk, KÖHLER, Gabriele, SCHROEDER, Josef, NÜRNBERG, Gudrun, NÜRNBERG, Peter, CHUNG, Eddie M. K, REINHARDT, Richard, MARTHIN, June K, NIELSEN, Kim G, WERNER, Claudius, MITCHISON, HannahM, OMRAN, Heymut, ONOUFRIADIS, Alexandros, LOGES, Niki T, RAIDT, Johanna, FANNI BANKI, Nora, SHOEMARK, Amelia, BURGOYNE, Tom, AL TURKI, Saeed
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics
Cindrić, 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
Published in American journal of respiratory cell and molecular biology (01.03.2020)
Published in American journal of respiratory cell and molecular biology (01.03.2020)
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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
Niswander, Lee, Omran, Heymut, Burdine, Rebecca D, Becker-Heck, Anita, Zohn, Irene E, Okabe, Noriko, Pollock, Andrew, Lenhart, Kari Baker, Sullivan-Brown, Jessica, McSheene, Jason, Loges, Niki T, Olbrich, Heike, Haeffner, Karsten, Fliegauf, Manfred, Horvath, Judith, Reinhardt, Richard, Nielsen, Kim G, Marthin, June K, Baktai, Gyorgy, Anderson, Kathryn V, Geisler, Robert
Published in Nature genetics (01.01.2011)
Published in Nature genetics (01.01.2011)
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Pulmonary radioaerosol mucociliary clearance assessment: searching for genotype-specific differences and potential as an outcome measure in primary ciliary dyskinesia
Marthin, June K, Holgersen, Mathias G, Nielsen, Kim G, Mortensen, Jann
Published in ERJ open research (01.11.2023)
Published in ERJ open research (01.11.2023)
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International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives
Marthin, June K., Lucas, Jane S., Boon, Mieke, Casaulta, Carmen, Crowley, Suzanne, Destouches, Damien M.S., Eber, Ernst, Escribano, Amparo, Haarman, Eric, Hogg, Claire, Maitre, Bernard, Marsh, Gemma, Martinu, Vendula, Moreno-Galdó, Antonio, Mussaffi, Huda, Omran, Heymut, Pohunek, Petr, Rindlisbacher, Bernhard, Robinson, Phil, Snijders, Deborah, Walker, Woolf T., Yiallouros, Panayiotis, Johansen, Helle Krogh, Nielsen, Kim G.
Published in ERJ open research (01.07.2021)
Published in ERJ open research (01.07.2021)
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Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School
Farley, Hannah, Rubbo, Bruna, Bukowy-Bieryllo, Zuzanna, Fassad, Mahmoud, Goutaki, Myrofora, Harman, Katharine, Hogg, Claire, Kuehni, Claudia E, Lopes, Susana, Nielsen, Kim G, Norris, Dominic P, Reula, Ana, Rumman, Nisreen, Shoemark, Amelia, Wilkins, Hannah, Wisse, Agatha, Lucas, Jane S, Marthin, June K
Published in BMC proceedings (18.12.2018)
Published in BMC proceedings (18.12.2018)
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Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard
Beydon, Nicole, Kouis, Panayiotis, Marthin, June K, Latzin, Philipp, Colas, Murielle, Davis, Stephanie D, Haarman, Eric, Harris, Amanda Lea, Hogg, Claire, Kilbride, Emma, Kuehni, Claudia E, Marangu, Diana, Nielsen, Kim G, Pendergrast, Catherine, Robinson, Phil, Rumman, Nisreen, Rutter, Matthew, Walker, Woolf T, Ferkol, Thomas, Lucas, Jane S
Published in The European respiratory journal (01.04.2023)
Published in The European respiratory journal (01.04.2023)
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Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia
Maglione, Marco, Bush, Andrew, Nielsen, Kim G., Hogg, Claire, Montella, Silvia, Marthin, June K., Di Giorgio, Angela, Santamaria, Francesca
Published in Pediatric pulmonology (01.12.2014)
Published in Pediatric pulmonology (01.12.2014)
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Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
Frommer, Adrien, Hjeij, Rim, Loges, Niki T, Edelbusch, Christine, Jahnke, Charlotte, Raidt, Johanna, Werner, Claudius, Wallmeier, Julia, Große-Onnebrink, Jörg, Olbrich, Heike, Cindrić, Sandra, Jaspers, Martine, Boon, Mieke, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Marthin, June K, Nielsen, Kim G, Amirav, Israel, Elias, Nael, Kerem, Eitan, Shoseyov, David, Haeffner, Karsten, Omran, Heymut
Published in American journal of respiratory cell and molecular biology (01.10.2015)
Published in American journal of respiratory cell and molecular biology (01.10.2015)
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Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations
Raidt, Johanna, Riepenhausen, Sarah, Pennekamp, Petra, Olbrich, Heike, Amirav, Israel, Athanazio, Rodrigo A., Aviram, Micha, Balinotti, Juan E., Bar-On, Ophir, Bode, Sebastian F.N., Boon, Mieke, Borrelli, Melissa, Carr, Siobhan B., Crowley, Suzanne, Dehlink, Eleonora, Diepenhorst, Sandra, Durdik, Peter, Dworniczak, Bernd, Emiralioğlu, Nagehan, Erdem, Ela, Fonnesu, Rossella, Gracci, Serena, Große-Onnebrink, Jörg, Gwozdziewicz, Karolina, Haarman, Eric G., Hansen, Christine R., Hogg, Claire, Holgersen, Mathias G., Kerem, Eitan, Körner, Robert W., Kötz, 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., Nöthe-Menchen, Tabea, Özçelik, Ugur, Pifferi, Massimo, Pogorzelski, Andrzej, Ringshausen, Felix C., Roehmel, Jobst F., Rovira-Amigo, Sandra, Rumman, Nisreen, Schlegtendal, Anne, Shoemark, Amelia, Sperstad Kennelly, Synne, Staar, Ben O., Sutharsan, Sivagurunathan, Thomas, Simon, Ullmann, Nicola, Varghese, Julian, von Hardenberg, Sandra, Walker, Woolf T., Wetzke, Martin, Witt, Michal, Yiallouros, Panayiotis, Zschocke, Anna, Ziętkiewicz, Ewa, Nielsen, Kim G., Omran, Heymut
Published in The European respiratory journal (01.08.2024)
Published in The European respiratory journal (01.08.2024)
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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
Moore, Daniel J., Onoufriadis, Alexandros, Shoemark, Amelia, Simpson, Michael A., zur Lage, Petra I., de Castro, Sandra C., Bartoloni, Lucia, Gallone, Giuseppe, Petridi, Stavroula, Woollard, Wesley J., Antony, Dinu, Schmidts, Miriam, Didonna, Teresa, Makrythanasis, Periklis, Bevillard, Jeremy, Mongan, Nigel P., Djakow, Jana, Pals, Gerard, Lucas, Jane S., Marthin, June K., Nielsen, Kim G., Santoni, Federico, Guipponi, Michel, Hogg, Claire, Antonarakis, Stylianos E., Emes, Richard D., Chung, Eddie M.K., Greene, Nicholas D.E., Blouin, Jean-Louis, Jarman, Andrew P., Mitchison, Hannah M.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Journal Article
The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN
Raidt, Johanna, Maitre, Bernard, Pennekamp, Petra, Altenburg, Josje, Anagnostopoulou, Pinelopi, Armengot, Miguel, Bloemsma, Lizan D., Boon, Mieke, Borrelli, Melissa, Brinkmann, Folke, Carr, Siobhan B., Carroll, Mary P., Castillo-Corullón, Silvia, Coste, André, Cutrera, Renato, Dehlink, Eleonora, Destouches, Damien M.S., Di Cicco, Maria E., Dixon, Lucy, Emiralioglu, Nagehan, Erdem Eralp, Ela, Haarman, Eric G., Hogg, Claire, Karadag, Bulent, Kobbernagel, Helene E., Lorent, Natalie, Mall, Marcus A., Marthin, June K., Martinu, Vendula, Narayanan, Manjith, Ozcelik, Ugur, Peckham, Daniel, Pifferi, Massimo, Pohunek, Petr, Polverino, Eva, Range, Simon, Ringshausen, Felix C., Robson, Evie, Roehmel, Jobst, Rovira-Amigo, Sandra, Santamaria, Francesca, Schlegtendal, Anne, Szépfalusi, Zsolt, Tempels, Petra, Thouvenin, Guillaume, Ullmann, Nicola, Walker, Woolf T., Wetzke, Martin, Yiallouros, Panayiotis, Omran, Heymut, Nielsen, Kim G.
Published in ERJ open research (01.07.2022)
Published in ERJ open research (01.07.2022)
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