Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2013 | 1 |
2016 | 2 |
2018 | 1 |
2019 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 51098
6 results
Results by year
Filters applied: . Clear all
Page 1
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Hum Mol Genet. 2019 Aug 15;28(16):2720-2737. doi: 10.1093/hmg/ddz091.
Hum Mol Genet. 2019.
PMID: 31042281
IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.
Chen X, Wang X, Jiang C, Xu M, Liu Y, Qi R, Qi X, Sun X, Xie P, Liu Q, Yan B, Sheng X, Zhao C.
Chen X, et al.
Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4581-4589. doi: 10.1167/iovs.17-23351.
Invest Ophthalmol Vis Sci. 2018.
PMID: 30242358
Item in Clipboard
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics Consortium; Krakow D, Cohn DH.
Zhang W, et al.
Hum Mol Genet. 2016 Sep 15;25(18):4012-4020. doi: 10.1093/hmg/ddw241. Epub 2016 Jul 27.
Hum Mol Genet. 2016.
PMID: 27466190
Free PMC article.
Item in Clipboard
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A.
Girisha KM, et al.
Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762. Epub 2016 Mar 15.
Clin Genet. 2016.
PMID: 26880018
Item in Clipboard
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K; Duncan EL, Mitchison HM.
Schmidts M, et al.
Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.
Am J Hum Genet. 2013.
PMID: 24183451
Free PMC article.
Item in Clipboard
Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V.
Huber C, et al.
Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12.
Am J Med Genet C Semin Med Genet. 2012.
PMID: 22791528
Review.
Item in Clipboard
Cite
Cite