PMC Articles for MedGen (Select 1714988) - PMC

Select item 99931581.

Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype

Andrew T. Barber, Adam J. Shapiro, Stephanie D. Davis, Thomas W. Ferkol, Jeffrey J. Atkinson, Scott D. Sagel, Sharon D. Dell, Kenneth N. Olivier, Carlos E. Milla, Margaret Rosenfeld, Lang Li, Feng-Chang Lin, Kelli M. Sullivan, Nicole A. Capps, Maimoona A. Zariwala, Michael R. Knowles, Margaret W. Leigh

Ann Am Thorac Soc. 2023 Mar 1; 20(3): 397–405. Published online 2023 Mar 1. doi: 10.1513/AnnalsATS.202206-487OC

PMCID:: PMC9993158

Article PDF–631K

Select item 93242892.

Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital

Mariana Dalbo Contrera Toro, José Dirceu Ribeiro, Fernando Augusto Lima Marson, Érica Ortiz, Adyléia Aparecida Dalbo Contrera Toro, Carmen Silvia Bertuzzo, Marcus Herbert Jones, Eulália Sakano

Genes (Basel) 2022 Jul; 13(7): 1252. Published online 2022 Jul 15. doi: 10.3390/genes13071252

PMCID:: PMC9324289

Article PDF–993K

Select item 79367213.

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

Isabella Aprea, Tabea Nöthe-Menchen, Gerard W Dougherty, Johanna Raidt, Niki T Loges, Thomas Kaiser, Julia Wallmeier, Heike Olbrich, Timo Strünker, Sabine Kliesch, Petra Pennekamp, Heymut Omran

Mol Hum Reprod. 2021 Mar; 27(3): gaab009. Published online 2021 Feb 9. doi: 10.1093/molehr/gaab009

PMCID:: PMC7936721

Article PDF–1.7M

Select item 79341024.

Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing

Eun Hye Cho, Chang-Seok Ki, Sun Ae Yun, Su-Young Kim, Byung Woo Jhun, Won-Jung Koh, Hee Jae Huh, Nam Yong Lee

Yonsei Med J. 2021 Mar 1; 62(3): 224–230. Published online 2021 Feb 15. doi: 10.3349/ymj.2021.62.3.224

Correction in:: Yonsei Med J. 2021 Apr 1; 62(4): 379.

PMCID:: PMC7934102

Article PDF–578K

Select item 76541685.

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta

BMC Med Genet. 2020; 21: 220. Published online 2020 Nov 10. doi: 10.1186/s12881-020-01160-5

PMCID:: PMC7654168

Article PDF–804K

Select item 67216626.

Clinical and Genetic Analysis of Children with Kartagener Syndrome

Rute Pereira, Telma Barbosa, Luís Gales, Elsa Oliveira, Rosário Santos, Jorge Oliveira, Mário Sousa

Cells. 2019 Aug; 8(8): 900. Published online 2019 Aug 15. doi: 10.3390/cells8080900

PMCID:: PMC6721662

Article PDF–4.0M

Select item 46309057.

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

Jillian P. Casey, Patricia Goggin, Jennifer McDaid, Martin White, Sean Ennis, David R. Betts, Jane S. Lucas, Basil Elnazir, Sally Ann Lynch

BMC Med Genet. 2015; 16: 45. Published online 2015 Jun 30. doi: 10.1186/s12881-015-0192-z

PMCID:: PMC4630905

Article PDF–2.1M

Select item 45283338.

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

Christian R. Marshall, Stephen W. Scherer, Maimoona A. Zariwala, Lynette Lau, Tara A. Paton, Tracy Stockley, Rebekah K. Jobling, Peter N. Ray, Michael R. Knowles, FORGE Canada Consortium, David A. Hall, Sharon D. Dell, Raymond H. Kim

G3 (Bethesda) 2015 Aug; 5(8): 1775–1781. Published online 2015 Jul 2. doi: 10.1534/g3.115.019851

PMCID:: PMC4528333

Article PDF–705K

Select item 40004449.

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Aarti Tarkar, Niki T. Loges, Christopher E. Slagle, Richard Francis, Gerard W. Dougherty, Joel V. Tamayo, Brett Shook, Marie Cantino, Daniel Schwartz, Charlotte Jahnke, Heike Olbrich, Claudius Werner, Johanna Raidt, Petra Pennekamp, Marouan Abouhamed, Rim Hjeij, Gabriele Köhler, Matthias Griese, You Li, Kristi Lemke, Nikolas Klena, Xiaoqin Liu, George Gabriel, Kimimasa Tobita, Martine Jaspers, Lucy C. Morgan, Adam J. Shapiro, Stef J.F. Letteboer, Dorus A. Mans, Johnny L. Carson, Margaret W. Leigh, Whitney E. Wolf, Serafine Chen, Jane S. Lucas, Alexandros Onoufriadis, Vincent Plagnol, Miriam Schmidts, Karsten Boldt, UK10K, Ronald Roepman, Maimoona Zariwala, Cecilia W. Lo, Hannah M. Mitchison, Michael R. Knowles, Rebecca D. Burdine, Joseph J. LoTurco, Heymut Omran

Nat Genet. Author manuscript; available in PMC 2014 Apr 26.

Published in final edited form as: Nat Genet. 2013 Sep; 45(9): 995–1003. Published online 2013 Jul 21. doi: 10.1038/ng.2707

PMCID:: PMC4000444

Article PDF–2.1M

Select item 381879610.

The nexin-dynein regulatory complex subunit DRC 1 is essential for motile cilia function in algae and humans

Maureen Wirschell, Heike Olbrich, Claudius Werner, Douglas Tritschler, Raqual Bower, Winfield Sale, Niki T. Loges, Petra Pennekamp, Sven Lindberg, Unne Stenram, Birgitta Carlén, Elisabeth Horak, Gabriele Köhler, Peter Nürnberg, Gudrun Nürnberg, Mary E. Porter, Heymut Omran

Nat Genet. Author manuscript; available in PMC 2013 Nov 6.

Published in final edited form as: Nat Genet. 2013 Mar; 45(3): 10.1038/ng.2533. Published online 2013 Jan 27. doi: 10.1038/ng.2533

PMCID:: PMC3818796

Article PDF–918K

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