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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
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
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
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
Mirtron-mediated RNA knockdown/replacement therapy for the treatment of dominant retinitis pigmentosa.
Orlans HO, McClements ME, Barnard AR, Martinez-Fernandez de la Camara C, MacLaren RE.
Nat Commun. 2021 Aug 16;12(1):4934. doi: 10.1038/s41467-021-25204-3.
PMID:34400638
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
De Falco A, Karali M, Criscuolo C, Testa F, Barillari MR, Scarpato M, Gaudieri V, Cuocolo A, Russo A, Nigro V, Simonelli F, Banfi S, Brunetti-Pierri N.
Am J Med Genet A. 2024 May;194(5):e63517. doi: 10.1002/ajmg.a.63517. Epub 2023 Dec 27.
PMID:38149346
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
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
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