Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1975 2
1976 2
1977 2
1978 2
1979 4
1980 2
1981 2
1982 3
1983 7
1984 6
1985 2
1986 13
1987 10
1988 7
1989 13
1990 12
1991 16
1992 16
1993 11
1994 18
1995 28
1996 26
1997 33
1998 40
1999 42
2000 36
2001 41
2002 51
2003 43
2004 54
2005 57
2006 41
2007 53
2008 69
2009 74
2010 84
2011 86
2012 106
2013 90
2014 106
2015 163
2016 162
2017 173
2018 313
2019 392
2020 503
2021 559
2022 505
2023 424
2024 30

Text availability

Article attribute

Article type

Publication date

Search Results

4,137 results

Results by year

Filters applied: . Clear all
Page 1
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y. Sun T, et al. Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. Invest Ophthalmol Vis Sci. 2018. PMID: 29625443
PURPOSE: Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. ...
PURPOSE: Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. ...
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Colombo L, et al. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. Invest Ophthalmol Vis Sci. 2021. PMID: 33576794 Free PMC article.
PURPOSE: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients. METHODS: A total of 591 probands (315 with family history and 276 sporadics) were analyzed. ...Mean ages of onset of the different classes …
PURPOSE: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients …
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M. Le Quesne Stabej P, et al. J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1. J Med Genet. 2012. PMID: 22135276 Free PMC article.
BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I-III) and nine Usher
BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, …
CEP78 is mutated in a distinct type of Usher syndrome.
Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, Li H, Sun Z, Li H, Yang L, Wang K, Zhang F, Li Y, Zhao C, Sui R, Chen R. Fu Q, et al. J Med Genet. 2017 Mar;54(3):190-195. doi: 10.1136/jmedgenet-2016-104166. Epub 2016 Sep 14. J Med Genet. 2017. PMID: 27627988 Free PMC article.
In this study, we aimed to identify the novel disease-causing gene of a distinct subtype of Usher syndrome. METHODS: Ophthalmic examinations and hearing tests were performed on patients with Usher syndrome in two consanguineous families. ...CONCLUSIONS: Our results …
In this study, we aimed to identify the novel disease-causing gene of a distinct subtype of Usher syndrome. METHODS: Ophthalmic exami …
Disease mechanisms and gene therapy for Usher syndrome.
Géléoc GGS, El-Amraoui A. Géléoc GGS, et al. Hear Res. 2020 Sep 1;394:107932. doi: 10.1016/j.heares.2020.107932. Epub 2020 Mar 4. Hear Res. 2020. PMID: 32199721 Review.
Usher syndrome (USH) is a major cause of deaf-blindness in humans, affecting 400 000 patients worldwide. ...Several Usher mouse models of known human Usher genes have been characterized. ...
Usher syndrome (USH) is a major cause of deaf-blindness in humans, affecting 400 000 patients worldwide. ...Several Usher mous
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.
de Joya EM, Colbert BM, Tang PC, Lam BL, Yang J, Blanton SH, Dykxhoorn DM, Liu X. de Joya EM, et al. Int J Mol Sci. 2021 Apr 10;22(8):3910. doi: 10.3390/ijms22083910. Int J Mol Sci. 2021. PMID: 33920085 Free PMC article. Review.
Currently cochlear implantation or hearing aids are the only treatments for Usher-related hearing loss. However, gene therapy has shown promise in treating Usher-related retinitis pigmentosa. Here we review how the etiologies of Usher-related hearing loss mak …
Currently cochlear implantation or hearing aids are the only treatments for Usher-related hearing loss. However, gene therapy has sho …
Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution.
Leong YC, Di Foggia V, Pramod H, Bitner-Glindzicz M, Patel A, Sowden JC. Leong YC, et al. Stem Cell Reports. 2022 Nov 8;17(11):2421-2437. doi: 10.1016/j.stemcr.2022.09.006. Epub 2022 Oct 13. Stem Cell Reports. 2022. PMID: 36240775 Free PMC article.
Usher syndrome-associated retinitis pigmentosa (RP) causes progressive retinal degeneration, which has no cure. The pathomechanism of Usher type 1B (USH1B)-RP caused by MYO7A mutation remains elusive because of the lack of faithful animal models and limited knowledg
Usher syndrome-associated retinitis pigmentosa (RP) causes progressive retinal degeneration, which has no cure. The pathomechanism of
Update on Usher syndrome.
Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M. Saihan Z, et al. Curr Opin Neurol. 2009 Feb;22(1):19-27. doi: 10.1097/wco.0b013e3283218807. Curr Opin Neurol. 2009. PMID: 19165952 Review.
Evidence has begun to emerge supporting a theory of a protein interactome involving the Usher proteins in both the inner ear and the retina. This interactome appears to be important for hair cell development in the ear but its role in the retina remains unclear. SUMMARY: U …
Evidence has begun to emerge supporting a theory of a protein interactome involving the Usher proteins in both the inner ear and the …
Usher Syndrome and Color Vision.
Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Stingl K, Kohl S, Bonnet C, Mohand-Saïd S, Sliesoraityte I, Sahel JA, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Zrenner E. Kurtenbach A, et al. Curr Eye Res. 2018 Oct;43(10):1295-1301. doi: 10.1080/02713683.2018.1501804. Epub 2018 Jul 30. Curr Eye Res. 2018. PMID: 30012035
PURPOSE: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the results in relation to Usher type (USH1 and USH2), age and visual acuity. ...
PURPOSE: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndro …
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. Stephenson KAJ, et al. Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. Invest Ophthalmol Vis Sci. 2023. PMID: 37466950 Free PMC article.
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IRDs) representing 50% of deaf-blindness. ...
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerati …
4,137 results