Showing 41 - 60 results of 209 for search '"deaf"', query time: 0.06s Refine Results
  1. 41

    Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination by Yoong-A Suh, Jisun Hwang, Go Hun Seo, Rin Khang, Jang Hoon Lee, Moon Sung Park, Young Bae Sohn

    Published 2025-01-01
    “…Deafness, dystonia, and central hypomyelination (DDCH) syndrome (OMIM #300475) is a rare X-linked genetic disorder characterized by developmental delays, deafness, central hypomyelination, and dystonia. …”
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  2. 42

    Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children by Le Xie, Yue Qiu, Yuan Jin, Kai Xu, Xue Bai, Xiao-Zhou Liu, Xiao-Hui Wang, Sen Chen, Yu Sun

    Published 2021-01-01
    “…By analyzing the patients who received 127 gene panel testing, we found that 51 deaf children carried variants which were not included in 159 variant testing. …”
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    GJB6-D13S1830 and GJB6-D13S1854 Deletions in Patients with non-Syndromic Prelingual Deafness by Mercedes Arceo Álvarez, Estela Morales Peralta, Yuledmi Perdomo Chacón, Teresa Collazo Mesa

    Published 2024-08-01
    “…<strong>Foundation:</strong> GJB6-D13S1830 and GJB6-D13S1854 deletions are pathogenic variants of the GJB6 gene, which has been shown to be the second cause of autosomal recessive non-syndromic deafness in Spain, where some of our ancestors come from. …”
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    Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? by Claudio Fozza, Fausto Poddie, Salvatore Contini, Antonio Galleu, Francesca Cottoni, Maurizio Longinotti, Francesco Cucca

    Published 2011-01-01
    “…Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G→A mutation involving the connexin 26 gene. …”
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  9. 49

    A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families by Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

    Published 2018-01-01
    “…Our study showed that targeted NGS is an effective tool for diagnosis of genetic deafness and that p.G141R in ILDR1 may be a relatively frequent mutation for DFNB42 in Chinese Hans.…”
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    The legal recognition of sign languages : advocacy and outcomes around the world /

    Published 2019
    Subjects: “…Deaf Legal status, laws, etc. 14227…”
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    Evaluation of disparities in hospitalisation outcomes for deaf and hard of hearing patients with COVID-19: a multistate analysis of statewide inpatient databases from Florida, Maryland, New York and Washington by Hiraku Kumamaru, Loren G Miller, Rie Sakai-Bizmark, Dennys Estevez, Emily H Marr, Jong Hyon Lee, Frank Wu

    Published 2025-01-01
    “…Objective Investigate whether deaf or hard of hearing (D/HH) patients with COVID-19 exhibited different hospitalisation outcomes compared with hearing patients with COVID-19.Design Cohort studySetting Statewide Inpatient Databases for Florida, Maryland, New York and Washington, for the year 2020.Participants Records of patients aged 18–64 years with COVID-19Primary outcomes and measures Differences in in-hospital death, 90-day readmission, length of stay, hospitalisation cost, hospitalisation cost per day, intensive care unit (ICU) or coronary care unit (CCU) utilisation and ventilation use were evaluated. …”
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  16. 56

    Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A) by Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova

    Published 2019-01-01
    “…The accuracy of in silico pathogenicity prediction tools has not been previously assessed for variants associated with autosomal recessive deafness 1A (DFNB1A). Here, we identify in silico tools with the most accurate clinical significance predictions for missense variants of the GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes associated with DFNB1A. …”
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