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retinitis pigmentosa-sensorineural deafness syndrome相关文献:
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G.
Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723.
PMID:34201633
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S.
Sci Rep. 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1.
PMID:36460718
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, Cappellino L, Lefevre A, Nagel-Wolfrum K, Wolfrum U, Van Wijk E, Roux AF, Meunier I, Kalatzis V.
HGG Adv. 2023 Aug 7;4(4):100229. doi: 10.1016/j.xhgg.2023.100229. eCollection 2023 Oct 12.
PMID:37654703
Ciliopathy: Usher Syndrome.
Tsang SH, Aycinena ARP, Sharma T.
Adv Exp Med Biol. 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32.
PMID:30578505
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
[Ciliopathies].
Gerth-Kahlert C, Koller S.
Klin Monbl Augenheilkd. 2018 Mar;235(3):264-272. doi: 10.1055/a-0573-9199. Epub 2018 Mar 13.
PMID:29534263
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.
Sun LW, Johnson RD, Langlo CS, Cooper RF, Razeen MM, Russillo MC, Dubra A, Connor TB Jr, Han DP, Pennesi ME, Kay CN, Weinberg DV, Stepien KE, Carroll J.
Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2428-42. doi: 10.1167/iovs.15-18246.
PMID:27145477
PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models.
Ivanchenko MV, Hathaway DM, Mulhall EM, Booth KT, Wang M, Peters CW, Klein AJ, Chen X, Li Y, György B, Corey DP.
J Clin Invest. 2024 Oct 23;134(23):e177700. doi: 10.1172/JCI177700.
PMID:39441757
Syndromic Retinitis Pigmentosa: A 15-Patient Study.
Holanda IP, Rim PHH, Rare Genomes Project Consortium, Guaragna MS, Gil-da-Silva-Lopes VL, Steiner CE.
Genes (Basel). 2024 Apr 20;15(4):516. doi: 10.3390/genes15040516.
PMID:38674450
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Usami SI, Isaka Y, Miyagawa M, Nishio SY.
Hum Genet. 2022 Apr;141(3-4):903-914. doi: 10.1007/s00439-022-02431-2. Epub 2022 Jan 12.
PMID:35020051
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