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retinitis pigmentosa(atypical)相关文献:
EYS-Associated Sector Retinitis Pigmentosa.
Marques JP, Porto FBO, Carvalho AL, Neves E, Chen R, Sampaio SAM, Murta J, Saraiva J, Silva R.
Graefes Arch Clin Exp Ophthalmol. 2022 Apr;260(4):1405-1413. doi: 10.1007/s00417-021-05411-w. Epub 2021 Sep 27.
PMID:34568954
Sector retinitis pigmentosa.
Van Woerkom C, Ferrucci S.
Optometry. 2005 May;76(5):309-17. doi: 10.1016/s1529-1839(05)70314-6.
PMID:15884421
Phenotypic characterization of retinitis pigmentosa associated with deafness.
Paredes ÁC, López G, Gelvez N, Tamayo ML.
Biomedica. 2022 May 1;42(Sp. 1):130-143. doi: 10.7705/biomedica.6129.
PMID:35866736
Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.
Lyraki R, Megaw R, Hurd T.
Biochem Soc Trans. 2016 Oct 15;44(5):1235-1244. doi: 10.1042/BST20160148.
PMID:27911705
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM.
Ophthalmic Genet. 2020 Oct;41(5):401-412. doi: 10.1080/13816810.2020.1747090. Epub 2020 May 6.
PMID:32372680
A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.
Lähteenoja L, Häkli S, Tuupanen S, Kuismin O, Palosaari T, Rahikkala E, Falck A.
Ophthalmic Genet. 2022 Apr;43(2):152-158. doi: 10.1080/13816810.2022.2045511. Epub 2022 Mar 3.
PMID:35240912
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X.
Ear Hear. 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066.
PMID:34039936
Retinitis pigmentosa without pigment.
Pearlman JT, Flood TP, Seiff SR.
Am J Ophthalmol. 1976 Apr;81(4):417-9. doi: 10.1016/0002-9394(76)90296-8.
PMID:1083673
Laurence-Moon-Bardet Biedl Syndrome With Cholelithiasis.
Kaleem S, Srirangadhamu Gopu S, Ishfaq L, Afroze S, Parvez M, Mulaka GSR, Venugopal V.
Cureus. 2023 Oct 19;15(10):e47316. doi: 10.7759/cureus.47316. eCollection 2023 Oct.
PMID:38021809
Atypical retinitis pigmentosa associated with CERKL mutation.
Tanwar V, Tripathi M, Gogia V.
Eye (Lond). 2025 May 5. doi: 10.1038/s41433-025-03815-0. Online ahead of print.
PMID:40325167
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