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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. ...Understanding the genotype of Irish USH patients may guide clinical and genetic cha …
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal deg …
Pathogenesis and Treatment of Usher Syndrome Type IIA.
Zaw K, Carvalho LS, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK, McLenachan S. Zaw K, et al. Asia Pac J Ophthalmol (Phila). 2022 Jul-Aug 01;11(4):369-379. doi: 10.1097/APO.0000000000000546. Epub 2022 Aug 17. Asia Pac J Ophthalmol (Phila). 2022. PMID: 36041150 Free article. Review.
Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per 100,000 people worldwide. The most common form of USH is type IIA (USH2A), which is caused by homozygous or compound heterozygous mut …
Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per …
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM. Molina-Ramírez LP, et al. Otol Neurotol. 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588. Otol Neurotol. 2020. PMID: 32176120
RESULTS: A valid allelic hierarchy model was observed in 93% of individuals with nonsyndromic USH2A-retinopathy (n = 14/15) and in 100% of patients with classic Usher syndrome type IIa (n = 8/8). Furthermore, when two large external cohorts of cases were comb …
RESULTS: A valid allelic hierarchy model was observed in 93% of individuals with nonsyndromic USH2A-retinopathy (n = 14/15) and in 100% of p …
Usher's Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation.
Magliulo G, Iannella G, Gagliardi S, Iozzo N, Plateroti R, Mariottini A, Torricelli F. Magliulo G, et al. Otolaryngol Head Neck Surg. 2017 Nov;157(5):853-860. doi: 10.1177/0194599817715235. Epub 2017 Jun 27. Otolaryngol Head Neck Surg. 2017. PMID: 28653555
Objective Usher's syndrome type II (USH2) is characterized by moderate to profound congenital hearing loss, later onset of retinitis pigmentosa, and normal vestibular function. ...In this cross-sectional study we performed vestibular tests of a group patients …
Objective Usher's syndrome type II (USH2) is characterized by moderate to profound congenital hearing loss, later onset …
A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.
Khorram E, Iravani O, Khorrami M, Amini M, Jahanian S, Nilforoush MH, Mousavi SR, Ehsanifard M, Kheirollahi M. Khorram E, et al. Audiol Neurootol. 2023;28(4):317-326. doi: 10.1159/000529420. Epub 2023 Apr 21. Audiol Neurootol. 2023. PMID: 37088079 Review.
INTRODUCTION: Usher syndrome (USH) is an autosomal recessive disorder that predominantly affects hearing, vision, and, in some cases, vestibular function. ...
INTRODUCTION: Usher syndrome (USH) is an autosomal recessive disorder that predominantly affects hearing, vision, and, in some …
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. Eandi CM, et al. Sci Rep. 2017 Nov 15;7(1):15681. doi: 10.1038/s41598-017-16014-z. Sci Rep. 2017. PMID: 29142287 Free PMC article.
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH …
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with c …
Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
Tamayo ML, Lopez G, Gelvez N, Medina D, Kimberling WJ, Rodríguez V, Tamayo GE, Bernal JE. Tamayo ML, et al. Genet Couns. 2008;19(1):15-27. Genet Couns. 2008. PMID: 18564497
Usher Syndrome (US), an autosomal recessive disease, is characterized by retinitis pigmentosa (RP), vestibular dysfunction, and congenital sensorineural deafness. ...In order to improve genetic counseling for affected families, we conducted linkage analysis and DNA …
Usher Syndrome (US), an autosomal recessive disease, is characterized by retinitis pigmentosa (RP), vestibular dysfunction, an …
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. Meng X, et al. Acta Ophthalmol. 2021 Jun;99(4):e447-e460. doi: 10.1111/aos.14626. Epub 2020 Oct 29. Acta Ophthalmol. 2021. PMID: 33124170 Free article.
PURPOSE: The aim of this study was to analyse 69 Chinese patients with USH2A mutations and to assess the genotype-phenotype correlation. METHODS: All 36 Usher syndrome type IIA patients and 33 nonsyndromic RP (retinitis pigmentosa) patients underwent clinical …
PURPOSE: The aim of this study was to analyse 69 Chinese patients with USH2A mutations and to assess the genotype-phenotype correlation. MET …
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Biswas P, Duncan JL, Maranhao B, Kozak I, Branham K, Gabriel L, Lin JH, Barteselli G, Navani M, Suk J, Parke M, Schlechter C, Weleber RG, Heckenlively JR, Dagnelie G, Lee P, Riazuddin SA, Ayyagari R. Biswas P, et al. Physiol Genomics. 2017 Apr 1;49(4):216-229. doi: 10.1152/physiolgenomics.00096.2016. Epub 2017 Jan 27. Physiol Genomics. 2017. PMID: 28130426 Free PMC article.
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C. Pérez-Carro R, et al. PLoS One. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018. PLoS One. 2018. PMID: 29912909 Free PMC article.
INTRODUCTION: Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment). One of the most frequent variants identified in this gene and among these patients is the p....To assess the causative role of …
INTRODUCTION: Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing …
13 results