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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1992 | 1 |
2004 | 1 |
2009 | 1 |
2010 | 1 |
2013 | 1 |
2016 | 1 |
2022 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 221421
7 results
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Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
J Hum Genet. 2022 Jul;67(7):381-386. doi: 10.1038/s10038-021-01006-9. Epub 2022 Jan 20.
J Hum Genet. 2022.
PMID: 35046476
High-throughput discovery of novel developmental phenotypes.
Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center; MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bućan M, Murray SA.
Dickinson ME, et al.
Nature. 2016 Sep 22;537(7621):508-514. doi: 10.1038/nature19356. Epub 2016 Sep 14.
Nature. 2016.
PMID: 27626380
Free PMC article.
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Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S.
Kott E, et al.
Am J Hum Genet. 2013 Sep 5;93(3):561-70. doi: 10.1016/j.ajhg.2013.07.013. Epub 2013 Aug 29.
Am J Hum Genet. 2013.
PMID: 23993197
Free PMC article.
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Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.
Reish O, Slatkin M, Chapman-Shimshoni D, Elizur A, Chioza B, Castleman V, Mitchison HM.
Reish O, et al.
Ann Hum Genet. 2010 Mar;74(2):117-25. doi: 10.1111/j.1469-1809.2009.00559.x. Epub 2010 Jan 8.
Ann Hum Genet. 2010.
PMID: 20070851
Free PMC article.
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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM.
Castleman VH, et al.
Am J Hum Genet. 2009 Feb;84(2):197-209. doi: 10.1016/j.ajhg.2009.01.011. Epub 2009 Feb 5.
Am J Hum Genet. 2009.
PMID: 19200523
Free PMC article.
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Central microtubular agenesis causing primary ciliary dyskinesia.
Stannard W, Rutman A, Wallis C, O'Callaghan C.
Stannard W, et al.
Am J Respir Crit Care Med. 2004 Mar 1;169(5):634-7. doi: 10.1164/rccm.200306-782OC.
Am J Respir Crit Care Med. 2004.
PMID: 14982824
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HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome.
Bianchi E, Savasta S, Calligaro A, Beluffi G, Poggi P, Tinelli M, Mevio E, Martinetti M.
Bianchi E, et al.
Hum Genet. 1992 May;89(3):270-4. doi: 10.1007/BF00220538.
Hum Genet. 1992.
PMID: 1601418
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