Results 31 to 40 of about 33,870 (219)

Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4

American Journal of Ophthalmology Case Reports, 2020
Purpose: Usher syndrome is a genetic disease characterized by combined sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia, with 15 known causative genes. Depending on the severity and onset of the symptoms, 3 different subtypes of
Víctor Abad-Morales, Rafael Navarro, Anniken Burés-Jelstrup, Esther Pomares   +3 more
doaj   +1 more source

Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation [PDF]

Clinical and Experimental Otorhinolaryngology, 2020
Objectives We, herein, report two novel USH2A variants from two unrelated Korean families and their clinical phenotypes, with attention to severe or more than severe sensorineural hearing loss (SNHL).
Sang-Yeon Lee, Kwangsic Joo, Jayoung Oh, Jin Hee Han, Hye-Rim Park, Seungmin Lee, Doo-Yi Oh, Se Joon Woo, Byung Yoon Choi   +8 more
doaj   +1 more source

Communication in deafblind adults with Usher syndrome: retrospective observational study [PDF]

, 2013
PURPOSE: To characterize the communication and the main mechanisms that facilitate interpersonal relationships of deafblind, especially in relation to communication and locomotion and the impact of these aspects on deafblindness.
Chiari, Brasilia Maria, Figueiredo, Marília Zannon De Andrade, Goulart, Bárbara Niegia Garcia De   +2 more
core   +2 more sources

Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function

Disease Models & Mechanisms, 2011
SUMMARY Usher syndrome is the most prevalent cause of hereditary deaf-blindness, characterized by congenital sensorineural hearing impairment and progressive photoreceptor degeneration beginning in childhood or adolescence.
Jennifer B. Phillips, Bernardo Blanco-Sanchez, Jennifer J. Lentz, Alexandra Tallafuss, Kornnika Khanobdee, Srirangan Sampath, Zachary G. Jacobs, Philip F. Han, Monalisa Mishra, Tom A. Titus, David S. Williams, Bronya J. Keats, Philip Washbourne, Monte Westerfield   +13 more
doaj   +1 more source

A Novel Frameshift Mutation of the Gene in a Korean Patient with Usher Syndrome Type II [PDF]

Clinical and Experimental Otorhinolaryngology, 2013
Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa.
Sung Hyun Boo, Min-Jung Song, Hee-Jin Kim, Yang-Sun Cho, Hosuk Chu, Moon-Hee Ko, Won-Ho Chung, Jong-Won Kim, Sung Hwa Hong   +8 more
doaj   +1 more source

Accelerated age-related olfactory decline among type 1 Usher patients [PDF]

, 2016
Usher Syndrome (USH) is a rare disease with hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. A phenotype heterogeneity is reported.
António, N, Hummel, T, Oliveiros, B, Paiva, A, Pereira, P, Ribeiro, JC, Silva, E   +6 more
core   +1 more source

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

BMC Medical Genetics, 2019
Background Usher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that the extra aural clinical manifestations are also detrimental to communication.
Justin A. Pater, Jane Green, Darren D. O’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Roslin, Terry-Lynn Young   +11 more
doaj   +1 more source

OCULAR ASPECTS OF USHER SYNDROM

Sanamed, 2020
Introduction: Usher Syndrome is a rare syndrom, which typical expressions are hearing loss, retinitis pigmentosa and in some cases impairment of balance and congenital cataract. It is inherited autosomal recessive.
Shekerinov Trpevska Natasha, Dashtevska Gjoshevska Emilija, Ivanova Maja   +2 more
doaj   +1 more source

Genetic and phenotypic presentation of Usher syndrome - a case report

Rwanda Medical Journal
Usher syndrome is a genetic, clinically heterogeneous condition characterized by sensorineural hearing loss, progressive retinal degeneration, and vestibular dysfunction. There are three phenotypically recognizable types of Usher syndrome.
N. Dukuze, E. Uwibambe, P. Sesonga, J. Niyongere, B. Tuyishimire, A. Urungwiro, J. Ndinkabandi, A. Rwamatwara, S. Niyoyita, G. Isingizwe, J. Mutamuliza, C. Nsanzabaganwa, J. Bukuru, F. Rutagarama, O. Karangwa, A. Ndatinya, C. Muhizi, L. Mutesa   +17 more
doaj   +1 more source

Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A

Stem Cell Research, 2023
Usher syndrome type 2A (USH2A) gene mutations have been identified as the most frequent genetic causes of hereditary deafness in Usher syndrome, and an effective treatment has yet to be established.
Takao Ukaji, Mikako Takahashi-Shibata, Daisuke Arai, Harumi Tsutsumi, Shori Tajima, Wado Akamatsu, Fumihiko Matsumoto, Katsuhisa Ikeda, Shin-ichi Usami, Kazusaku Kamiya   +9 more
doaj   +1 more source