HuGE Literature Finder
Records 1-30
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[Analysis of results of concurrent hearing and deafness genetic screening and follow up of 33 911 newborns].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Jan 38 (1): 32-36. Lei Jie, Han Luhao, Deng Xi, Long Min, Xiao Yanwei, Lin Xiaowen, Zhang Ji |
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Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.
Molecular genetics & genomic medicine 2020 Oct e1539. Xiang Yan-Bao, Xu Chen-Yang, Xu Yun-Zhi, Li Huan-Zheng, Zhou Li-Li, Xu Xue-Qin, Chen Zi-Hui, Tang Shao-H |
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Novel Variants in Hearing Loss Genes and Associations With Audiometric Thresholds in a Multi-ethnic Cohort of US Patients With Cochlear Implants.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 Aug 41 (7): 978-985. Yoon Patricia J, Sumalde Angelo Augusto M, Ray Dylan C, Newton Stephen, Cass Stephen P, Chan Kenny H, Santos-Cortez Regie Lyn |
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Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.
Journal of human genetics 2020 May . Cesca Federica, Bettella Elisa, Polli Roberta, Leonardi Emanuela, Aspromonte Maria Cristina, Sicilian Barbara, Stanzial Franco, Benedicenti Francesco, Sensi Alberto, Ciorba Andrea, Bigoni Stefania, Cama Elona, Scimemi Pietro, Santarelli Rosamaria, Murgia Alessand |
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The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
International journal of pediatric otorhinolaryngology 2020 May 136 110143. Liu Xiao-Wen, Wang Jian-Chao, Wang Su-Yang, Li Shu-Juan, Zhu Yi-Ming, Ding Wen-Juan, Xu Chen-Yang, Duan Lei, Xu Bai-Cheng, Guo Yu-F |
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Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.
Molecular genetics & genomic medicine 2020 Feb e1171. Pandya Arti, O'Brien Alexander, Kovasala Michael, Bademci Guney, Tekin Mustafa, Arnos Kathleen |
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Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Orphanet journal of rare diseases 2020 Jan 15 (1): 29. Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H |
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Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2019 Dec . Ramzan Khushnooda, Al-Owain Mohammed, Al-Numair Nouf S, Afzal Sibtain, Al-Ageel Sarah, Al-Amer Sultan, Al-Baik Lina, Al-Otaibi Ghoson F, Hashem Amal, Al-Mashharawi Eman, Basit Salman, Al-Mazroea Abdal H, Softah Ameen, Sogaty Sameera, Imtiaz Fai |
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Genetics of Hereditary Hearing Loss in the Middle East: A Systematic Review of the Carrier Frequency of the GJB2 Mutation (35delG).
Audiology & neuro-otology 2019 Sep 1-5. Koohiyan Mahbob |
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Suspension array-based deafness genetic screening in 53,033 Chinese newborns identifies high prevalence of 109?G>A in GJB2.
International journal of pediatric otorhinolaryngology 2019 Aug 126 109630. Zou Yu, Dai Qi-Qiang, Tao Wei-Jing, Wen Xiao-Ling, Feng De-Feng, Deng Hua, Zhou Wei-Ping, Li Mi, Zhang Lia |
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Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.
Stem cell research 2019 Jul 40 101524. Cheng Yen-Fu, Chan Yen-Hui, Hu Chin-Ju, Lu Ying-Chang, Saeki Tsubasa, Hosoya Makoto, Saegusa Chika, Fujioka Masato, Okano Hideyuki, Weng Shih-Ming, Hsu Chuan-Jen, Chang Kuo-Hsuan, Wu Chen-C |
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Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
The journal of international advanced otology 2019 Jul . Lin Ying, Yu Feng, Jiao Yuelong, Zhou Fe |
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The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
International journal of pediatric otorhinolaryngology 2019 Jun 124 157-160. Talbi Sonia, Bonnet Crystel, Boudjenah Farid, Mansouri Mohammed Tahar, Petit Christine, Ammar Khodja Fati |
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Contribution of the GSTP1 c.313A>G variant to hearing loss risk in patients exposed to platin chemotherapy during childhood.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2019 May 21 (5): 630-635. Liberman P H P, Goffi-Gomez M V S, Schultz C, Jacob P L, de Paula C A A, Sartorato E L, Torrezan G T, Ferreira E N, Carraro D |
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Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China.
Acta oto-laryngologica 2019 May 1-6. Zhang Meng, Han Yuechen, Zhang Fengguo, Bai Xiaohui, Wang Hai |
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[Application of next generation sequencing for the diagnosis of congenital hearing loss].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 Apr 36 (4): 301-305. Ren Shumin, Kong Xiangdong, Shi Huirong, Wu Qinghua, Liu Ni |
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Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
International journal of pediatric otorhinolaryngology 2019 Apr 122 185-190. Xiang Yan-Bao, Tang Shao-Hua, Li Huan-Zheng, Xu Chen-Yang, Chen Chong, Xu Yun-Zhi, Ding Li-Rong, Xu Xue-Q |
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Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.
Fetal and pediatric pathology 2019 Apr 38 (2): 93-102. Alimardani Maliheh, Hosseini Seyed Mojtaba, Khaniani Mahmoud Shekari, Haghi Mohsen Rajati, Eslahi Atieh, Farjami Mashsa, Chezgi Javad, Derakhshan Sima Mansoori, Mojarrad Maj |
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Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.
Molecular biology reports 2019 Feb . Gibriel Abdullah A, Abou-Elew Maha H, Masmoudi Sab |
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Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.
Scientific reports 2019 Feb 9 (1): 1604. Han Jae Joon, Nguyen Pham Dinh, Oh Doo-Yi, Han Jin Hee, Kim Ah-Reum, Kim Min Young, Park Hye-Rim, Tran Lam Huyen, Dung Nguyen Huu, Koo Ja-Won, Lee Jun Ho, Oh Seung Ha, Anh Vu Hoang, Choi Byung Yo |
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A Mutational Analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in Children with Nonsyndromic Hearing Loss in the Henan Province of China.
Genetic testing and molecular biomarkers 2019 Jan 23 (1): 51-56. Ming Liang, Wang Yangxia, Lu Wei, Sun Ti |
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Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran.
Journal of audiology & otology 2019 Jan 23 (1): 20-26. Azadegan-Dehkordi Fatemeh, Bahrami Tayyebe, Shirzad Maryam, Karbasi Gelareh, Yazdanpanahi Nasrin, Farrokhi Effat, Koohiyan Mahbobeh, Tabatabaiefar Mohammad Amin, Hashemzadeh-Chaleshtori Morte |
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A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.
PloS one 2019 14 (4): e0215212. Liu Yalan, Hu Chang, Liu Chang, Liu Deyuan, Mei Lingyun, He Chufeng, Jiang Lu, Wu Hong, Chen Hongsheng, Feng Yo |
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[Analysis of mutations of 4 common genes among 216 patients with non-syndromic hearing impairment].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 Oct 35 (5): 630-633. Li Can, Lu Dan, Chen Xiaoping, Huang Bingcang, Chen Kai, Liu Xing, Hu An, Zhang Yi, Xue Xiaocheng, Xing Yanli, Yan Zhigang, Dong Xiangro |
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Investigation of the mtDNA mutations in Syrian families with non-syndromic sensorineural hearing loss.
International journal of pediatric otorhinolaryngology 2018 Oct 113 110-114. Moassass Faten, Al-Halabi Bassel, Nweder Mohamad Sayah, Al-Achkar Wal |
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Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.
Medicine 2018 Sep 97 (38): e12285. Zhao Pingsen, Lin Lifang, Lan Liubi |
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Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family.
Molecular medicine reports 2018 Sep . Cui Yong, He Duan-J |
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The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Sep 39 (8): e726-e730. Chiong Charlotte M, Reyes-Quintos Ma Rina T, Yarza Talitha Karisse L, Tobias-Grasso Celina Ann M, Acharya Anushree, Leal Suzanne M, Mohlke Karen L, Mayol Nanette L, Cutiongco-de la Paz Eva Maria, Santos-Cortez Regie Lyn |
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Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss.
Annals of human genetics 2018 Sep . Azadegan-Dehkordi Fatemeh, Ahmadi Reza, Koohiyan Mahbobeh, Hashemzadeh-Chaleshtori Morte |
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Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2018 Aug . Kecskeméti Nóra, Szönyi Magdolna, Gáborján Anita, Küstel Marianna, Milley György Máté, Süveges Anna, Illés Anett, Kékesi Anna, Tamás László, Molnár Mária Judit, Szirmai Ágnes, Gál Ani |
- Page last reviewed:Oct 1, 2020
- Page last updated:Jan 19, 2021
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