273 related articles for article (PubMed ID: 37466950)
1. 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; 64(10):23. PubMed ID: 37466950
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM; Al-Khuzaei S; Shah M; Broadgate S; Shanks M; Kamath A; Yu J; Jolly JK; MacLaren RE; Clouston P; Halford S; Downes SM
Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011334
[TBL] [Abstract][Full Text] [Related]
3. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
Reiners J; Nagel-Wolfrum K; Jürgens K; Märker T; Wolfrum U
Exp Eye Res; 2006 Jul; 83(1):97-119. PubMed ID: 16545802
[TBL] [Abstract][Full Text] [Related]
4. The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Khalaileh A; Abu-Diab A; Ben-Yosef T; Raas-Rothschild A; Lerer I; Alswaiti Y; Chowers I; Banin E; Sharon D; Khateb S
Invest Ophthalmol Vis Sci; 2018 Feb; 59(2):1095-1104. PubMed ID: 29490346
[TBL] [Abstract][Full Text] [Related]
5. Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
Eandi CM; Dallorto L; Spinetta R; Micieli MP; Vanzetti M; Mariottini A; Passerini I; Torricelli F; Alovisi C; Marchese C
Sci Rep; 2017 Nov; 7(1):15681. PubMed ID: 29142287
[TBL] [Abstract][Full Text] [Related]
6. CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.
Testa F; Melillo P; Bonnet C; Marcelli V; de Benedictis A; Colucci R; Gallo B; Kurtenbach A; Rossi S; Marciano E; Auricchio A; Petit C; Zrenner E; Simonelli F
Retina; 2017 Aug; 37(8):1581-1590. PubMed ID: 27828912
[TBL] [Abstract][Full Text] [Related]
7. USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.
Ahmed AN; Tahir R; Khan N; Ahmad M; Dawood M; Basit A; Yasin M; Nowshid M; Marwan M; Sultan K; Saleha S
BMC Ophthalmol; 2021 Apr; 21(1):191. PubMed ID: 33926394
[TBL] [Abstract][Full Text] [Related]
8.
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 Oct; 4(4):100229. PubMed ID: 37654703
[TBL] [Abstract][Full Text] [Related]
9. Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.
Meng X; Liu X; Li Y; Guo T; Yang L
Acta Ophthalmol; 2021 Jun; 99(4):e447-e460. PubMed ID: 33124170
[TBL] [Abstract][Full Text] [Related]
10. Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.
Qu LH; Jin X; Long YL; Ren JY; Weng CH; Xu HW; Liu Y; Meng XH; Li SY; Yin ZQ
Biosci Rep; 2020 Jan; 40(1):. PubMed ID: 31904091
[TBL] [Abstract][Full Text] [Related]
11. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
Xu W; Dai H; Lu T; Zhang X; Dong B; Li Y
Mol Vis; 2011; 17():1537-52. PubMed ID: 21686329
[TBL] [Abstract][Full Text] [Related]
12. Extended mutation spectrum of Usher syndrome in Finland.
Västinsalo H; Jalkanen R; Bergmann C; Neuhaus C; Kleemola L; Jauhola L; Bolz HJ; Sankila EM
Acta Ophthalmol; 2013 Jun; 91(4):325-34. PubMed ID: 22681893
[TBL] [Abstract][Full Text] [Related]
13. The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S; El-Amraoui A
Hum Genet; 2022 Apr; 141(3-4):709-735. PubMed ID: 35353227
[TBL] [Abstract][Full Text] [Related]
14. Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova ME; Trubilin VN; Atarshchikov DS; Demchinsky AM; Strelnikov VV; Tanas AS; Orlova OM; Machalov AS; Overchenko KV; Markova TV; Golenkova DM; Anoshkin KI; Volodin IV; Zaletaev DV; Pulin AA; Nadelyaeva II; Kalinkin AI; Barh D
Ophthalmic Genet; 2018 Dec; 39(6):706-713. PubMed ID: 30358468
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L; Blanco-Kelly F; García-García G; Ávila-Fernández A; Jaijo T; Fuster-García C; Perea-Romero I; Zurita-Muñoz O; Jimenez-Rolando B; Carreño E; García-Sandoval B; Millán JM; Ayuso C
Acta Ophthalmol; 2021 Dec; 99(8):922-930. PubMed ID: 33576163
[TBL] [Abstract][Full Text] [Related]
16. MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.
Sodi A; Mariottini A; Passerini I; Murro V; Tachyla I; Bianchi B; Menchini U; Torricelli F
Mol Vis; 2014; 20():1717-31. PubMed ID: 25558175
[TBL] [Abstract][Full Text] [Related]
17. Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
Yoshimura H; Miyagawa M; Kumakawa K; Nishio SY; Usami S
J Hum Genet; 2016 May; 61(5):419-22. PubMed ID: 26791358
[TBL] [Abstract][Full Text] [Related]
18. Novel
D'Esposito F; Randazzo V; Cennamo G; Centore N; Maltese PE; Malesci R; D'Andrea L; Bertelli M; Marciano E; de Crecchio G; Pioppo A; Magli A; Cordeiro MF
Eur J Ophthalmol; 2021 Mar; 31(2):NP18-NP22. PubMed ID: 31566003
[TBL] [Abstract][Full Text] [Related]
19. Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone A; Brewer CC; Cheng P; Duncan JL; Maguire MG; Audo I; Ayala AR; Bernstein PS; Bidelman GM; Cheetham JK; Doty RL; Durham TA; Hufnagel RB; Myers MH; Stingl K; Zein WM;
Am J Med Genet A; 2021 Dec; 185(12):3717-3727. PubMed ID: 34331386
[TBL] [Abstract][Full Text] [Related]
20. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Ebermann I; Scholl HP; Charbel Issa P; Becirovic E; Lamprecht J; Jurklies B; Millán JM; Aller E; Mitter D; Bolz H
Hum Genet; 2007 Apr; 121(2):203-11. PubMed ID: 17171570
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
