Current and Future Treatments in Primary Ciliary Dyskinesia
Paff, Tamara, Omran, Heymut, Nielsen, Kim G, Haarman, Eric G
Published in International journal of molecular sciences (11.09.2021)
Published in International journal of molecular sciences (11.09.2021)
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European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
Lucas, Jane S, Barbato, Angelo, Collins, Samuel A, Goutaki, Myrofora, Behan, Laura, Caudri, Daan, Dell, Sharon, Eber, Ernst, Escudier, Estelle, Hirst, Robert A, Hogg, Claire, Jorissen, Mark, Latzin, Philipp, Legendre, Marie, Leigh, Margaret W, Midulla, Fabio, Nielsen, Kim G, Omran, Heymut, Papon, Jean-Francois, Pohunek, Petr, Redfern, Beatrice, Rigau, David, Rindlisbacher, Bernhard, Santamaria, Francesca, Shoemark, Amelia, Snijders, Deborah, Tonia, Thomy, Titieni, Andrea, Walker, Woolf T, Werner, Claudius, Bush, Andrew, Kuehni, Claudia E
Published in The European respiratory journal (01.01.2017)
Published in The European respiratory journal (01.01.2017)
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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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Journal Article
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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Journal Article
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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Journal Article
An international registry for primary ciliary dyskinesia
Werner, Claudius, Lablans, Martin, Ataian, Maximilian, Raidt, Johanna, Wallmeier, Julia, Große-Onnebrink, Jörg, Kuehni, Claudia E, Haarman, Eric G, Leigh, Margaret W, Quittner, Alexandra L, Lucas, Jane S, Hogg, Claire, Witt, Michal, Priftis, Kostas N, Yiallouros, Panayiotis, Nielsen, Kim G, Santamaria, Francesca, Ückert, Frank, Omran, Heymut
Published in The European respiratory journal (01.03.2016)
Published in The European respiratory journal (01.03.2016)
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Journal Article
Multiple breath washout and oscillometry after allogenic HSCT: a scoping review
Sonneveld, Nicole, Rayment, Jonathan H, Usemann, Jakob, Nielsen, Kim G, Robinson, Paul D
Published in European respiratory review (30.09.2023)
Published in European respiratory review (30.09.2023)
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Journal Article
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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Journal Article
The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results
Goutaki, Myrofora, Maurer, Elisabeth, Halbeisen, Florian S, Amirav, Israel, Barbato, Angelo, Behan, Laura, Boon, Mieke, Casaulta, Carmen, Clement, Annick, Crowley, Suzanne, Haarman, Eric, Hogg, Claire, Karadag, Bulent, Koerner-Rettberg, Cordula, Leigh, Margaret W, Loebinger, Michael R, Mazurek, Henryk, Morgan, Lucy, Nielsen, Kim G, Omran, Heymut, Schwerk, Nicolaus, Scigliano, Sergio, Werner, Claudius, Yiallouros, Panayiotis, Zivkovic, Zorica, Lucas, Jane S, Kuehni, Claudia E
Published in The European respiratory journal (01.01.2017)
Published in The European respiratory journal (01.01.2017)
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Journal Article
Exhaled breath analysis using electronic nose in cystic fibrosis and primary ciliary dyskinesia patients with chronic pulmonary infections
Joensen, Odin, Paff, Tamara, Haarman, Eric G, Skovgaard, Ib M, Jensen, Peter Ø, Bjarnsholt, Thomas, Nielsen, Kim G
Published in PloS one (26.12.2014)
Published in PloS one (26.12.2014)
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Journal Article
A systematic literature review of the clinical and socioeconomic burden of bronchiectasis
Chalmers, James D, Mall, Marcus A, McShane, Pamela J, Nielsen, Kim G, Shteinberg, Michal, Sullivan, Sean D, Chotirmall, Sanjay H
Published in European respiratory review (01.07.2024)
Published in European respiratory review (01.07.2024)
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Journal Article
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force
Nabbout, Rima, Zanello, Galliano, Baker, Dixie, Black, Lora, Brambilla, Isabella, Buske, Orion J, Conklin, Laurie S, Davies, Elin Haf, Julkowska, Daria, Kim, Yeonju, Klopstock, Thomas, Nakamura, Harumasa, Nielsen, Kim G, Pariser, Anne R, Pastor, Jose Carlos, Scarpa, Maurizio, Smith, Maureen, Taruscio, Domenica, Groft, Stephen
Published in Orphanet journal of rare diseases (09.05.2023)
Published in Orphanet journal of rare diseases (09.05.2023)
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Journal Article
The single-breath diffusing capacity of CO and NO in healthy children of European descent
Thomas, Astrid, Hanel, Birgitte, Marott, Jacob L, Buchvald, Frederik, Mortensen, Jann, Nielsen, Kim G
Published in PloS one (16.12.2014)
Published in PloS one (16.12.2014)
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Journal Article
Characteristics and impact of exercise-induced laryngeal obstruction: an international perspective
Walsted, Emil S, Famokunwa, Bamidele, Andersen, Louise, Rubak, Sune L, Buchvald, Frederik, Pedersen, Lars, Dodd, James, Backer, Vibeke, Nielsen, Kim G, Getzin, Andrew, Hull, James H
Published in ERJ open research (01.04.2021)
Published in ERJ open research (01.04.2021)
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Journal Article
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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Journal Article
The effect of time-of-day and chest physiotherapy on multiple breath washout measures in children with clinically stable cystic fibrosis
Voldby, Christian, Green, Kent, Rosthøj, Susanne, Kongstad, Thomas, Philipsen, Lue, Buchvald, Frederik, Skov, Marianne, Pressler, Tania, Gustafsson, Per, Nielsen, Kim G
Published in PloS one (10.01.2018)
Published in PloS one (10.01.2018)
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Journal Article
Correction: The Single-Breath Diffusing Capacity of CO and NO in Healthy Children of European Descent
Thomas, Astrid, Hanel, Birgitte, Marott, Jacob L, Buchvald, Frederik, Mortensen, Jann, Nielsen, Kim G
Published in PloS one (01.06.2017)
Published in PloS one (01.06.2017)
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Journal Article
Registries and collaborative studies for primary ciliary dyskinesia in Europe
Ardura-Garcia, Cristina, Goutaki, Myrofora, Carr, Siobhán B., Crowley, Suzanne, Halbeisen, Florian S., Nielsen, Kim G., Pennekamp, Petra, Raidt, Johanna, Thouvenin, Guillaume, Yiallouros, Panayiotis K., Omran, Heymut, Kuehni, Claudia E.
Published in ERJ open research (01.04.2020)
Published in ERJ open research (01.04.2020)
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