Search

Your search keyword '"Hjeij, Rim"' showing total 3 results
Start Over Author "Hjeij, Rim" Database Supplemental Index
3 results on '"Hjeij, Rim"'

1. Biallelic DAW1variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Author

Leslie, Joseph S., Hjeij, Rim, Vivante, Asaf, Bearce, Elizabeth A., Dyer, Laura, Wang, Jiaolong, Rawlins, Lettie, Kennedy, Joanna, Ubeyratna, Nishanka, Fasham, James, Irons, Zoe H., Craig, Samuel B., Koenig, Julia, George, Sebastian, Pode-Shakked, Ben, Bolkier, Yoav, Barel, Ortal, Mane, Shrikant, Frederiksen, Kathrine K., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Lorentzen, Esben, Norris, Dominic P., Anikster, Yair, Omran, Heymut, Grimes, Daniel T., Crosby, Andrew H., and Baple, Emma L.

Abstract

The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis.

Published
2022
Full Text
View/download PDF

2. Pathogenic variants in CLXNencoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia

Author

Hjeij, Rim, Aprea, Isabella, Poeta, Marco, Nöthe-Menchen, Tabea, Bracht, Diana, Raidt, Johanna, Honecker, Barbara I., Dougherty, Gerard W., Olbrich, Heike, Schwartz, Oliver, Keller, Ulrike, Nüsse, Harald, Diderich, Karin E.M., Vogelberg, Christian, Santamaria, Francesca, and Omran, Heymut

Abstract

Primary ciliary dyskinesia (PCD) is a heterogeneous disorder that includes respiratory symptoms, laterality defects, and infertility caused by dysfunction of motile cilia. Most PCD-causing variants result in abnormal outer dynein arms (ODAs), which provide the generative force for respiratory ciliary beating and proper mucociliary clearance.

Published
2023
Full Text
View/download PDF

3. Randomization of Left-Right Asymmetry and Congenital Heart Defects

Author

Nöthe-Menchen, Tabea, Wallmeier, Julia, Pennekamp, Petra, Höben, 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, Jörg, Häffner, 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, and Zariwala, Maimoona A.

Abstract

Supplemental Digital Content is available in the text.

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results