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.
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.
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.
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.
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.
[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.
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.
Photodynamic therapy for vasoproliferative tumour associated with retinitis pigmentosa and Usher syndrome type 2.
Grassi P.
Clin Exp Optom. 2022 Jan;105(1):91-93. doi: 10.1080/08164622.2021.1878853. Epub 2021 Feb 25.
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.
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ.
Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23.
