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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1999 1
2001 2
2002 1
2005 2
2006 2
2007 1
2008 1
2009 3
2010 3
2011 4
2012 5
2013 6
2014 4
2015 2
2016 2
2017 4
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2019 5
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2021 5
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2023 8
2024 19
2025 16

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Similar articles for PMID: 20301301

101 results

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Page 1
Primary Ciliary Dyskinesia.
Zariwala MA, Knowles MR, Leigh MW. Zariwala MA, et al. 2007 Jan 24 [updated 2019 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2007 Jan 24 [updated 2019 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301301 Free Books & Documents. Review.
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M. Jeanson L, et al. Am J Hum Genet. 2015 Jul 2;97(1):153-62. doi: 10.1016/j.ajhg.2015.05.004. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073779 Free PMC article.
Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.
Brody SL, Pan J, Huang T, Xu J, Xu H, Koenitizer JR, Brennan SK, Nanjundappa R, Saba TG, Rumman N, Berical A, Hawkins FJ, Wang X, Zhang R, Mahjoub MR, Horani A, Dutcher SK. Brody SL, et al. Sci Transl Med. 2025 Jan 29;17(783):eadp5173. doi: 10.1126/scitranslmed.adp5173. Epub 2025 Jan 29. Sci Transl Med. 2025. PMID: 39879322
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR. Mitchison HM, et al. Nat Genet. 2012 Mar 4;44(4):381-9, S1-2. doi: 10.1038/ng.1106. Nat Genet. 2012. PMID: 22387996 Free PMC article.
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H. Frommer A, et al. Am J Respir Cell Mol Biol. 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. Am J Respir Cell Mol Biol. 2015. PMID: 25789548 Free PMC article.
Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.
Aprea I, Wilken A, Krallmann C, Nöthe-Menchen T, Olbrich H, Loges NT, Dougherty GW, Bracht D, Brenker C, Kliesch S, Strünker T, Tüttelmann F, Raidt J, Omran H. Aprea I, et al. Front Genet. 2023 Feb 17;14:1117821. doi: 10.3389/fgene.2023.1117821. eCollection 2023. Front Genet. 2023. PMID: 36873931 Free PMC article.
101 results