Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 71 Records) |
| Query Trace: Disease and GJB2[original query] |
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| Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family. Iranian journal of basic medical sciences 2016 Jul 19 (7): 772-8. Reiisi Somayeh, Tabatabaiefar Mohammad Amin, Sanati Mohammad Hosein, Chaleshtori Morteza Hashemzad |
| A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology : JEADV 2016 May . Yang R, Hu Zl, Kong Qt, Li Ww, Zhang Ll, Du X, Huang Sy, Xia Xy, Sang |
| The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria. Acta oto-laryngologica 2016 Nov 1-5. Parzefall Thomas, Lucas Trevor, Koenighofer Martin, Ramsebner Reinhard, Frohne Alexandra, Czeiger Shelly, Baumgartner Wolf-Dieter, Schoefer Christian, Gstoettner Wolfgang, Frei Kleme |
| Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population. Genetics and molecular research : GMR 2017 Feb 16 (1): . Xiong Y, Zhong M, Chen J, Yan Y L, Lin X F, Li |
| Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease. Frontiers in genetics 2019 10 76. Gallego-Martinez Alvaro, Requena Teresa, Roman-Naranjo Pablo, Lopez-Escamez Jose |
| A novel LOXHD1 variant in a Chinese couple with hearing loss. The Journal of international medical research 2019 11 47 (12): 6082-6090. Zhang Chuan, Hao Shengju, Liu Yali, Zhou Bingbo, Liu Furong, Zheng Lei, Ma Panpan, Liu Qing, Lin Xiaojuan, Yan Yousheng, Zhang Qingh |
| A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family. Audiology & neuro-otology 2019 10 24 (5): 258-263. Koohiyan Mahbobeh, Noori-Daloii Mohammad Reza, Hashemzadeh-Chaleshtori Morteza, Salehi Mansoor, Abtahi Hamidreza, Tabatabaiefar Mohammad Am |
| A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. Journal of personalized medicine 2020 9 10 (3): . Kiseleva Anna V, Klimushina Marina V, Sotnikova Evgeniia A, Divashuk Mikhail G, Ershova Alexandra I, Skirko Olga P, Kurilova Olga V, Zharikova Anastasia A, Khlebus Eleonora Yu, Efimova Irina A, Pokrovskaya Maria S, Slominsky Petr A, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana |
| Identifying germline APOBEC3B deletion and immune phenotype in Korean patients with operable breast cancer. Breast cancer research and treatment 2020 7 183 (3): 697-704. Kim Se Hyun, Ahn Soomin, Suh Koung Jin, Kim Yu Jung, Park So Yeon, Kang Eunyoung, Kim Eun-Kyu, Kim In Ah, Chae Sumin, Choi Murim, Kim Jee Hy |
| Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden. Life (Basel, Switzerland) 2020 10 10 (11): . Adadey Samuel Mawuli, Wonkam-Tingang Edmond, Twumasi Aboagye Elvis, Nayo-Gyan Daniel Wonder, Boatemaa Ansong Maame, Quaye Osbourne, Awandare Gordon A, Wonkam Ambroi |
| Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo. Current medical science 2021 Aug 41 (4): 673-679. Gao Yun, Wang Hong-Yang, Guan Jing, Lan Lan, Zhao Cui, Xie Lin-Yi, Wang Da-Yong, Wang Qiu- |
| Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. Frontiers in genetics 2021 6 12 641925. Fareed Mohd, Sharma Varun, Singh Inderpal, Rehman Sayeed Ur, Singh Gurdarshan, Afzal Mohamm |
| Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran. Intractable & rare diseases research 2021 2 10 (1): 23-30. Koohiyan Mahbobeh, Hashemzadeh-Chaleshtori Morteza, Tabatabaiefar Mohammad Am |
| Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study. Hong Kong medical journal = Xianggang yi xue za zhi 2021 Feb . Chan O Y M, Leung T Y, Cao Y, Shi M M, Kwan A H W, Chung J P W, Choy K W, Chong S |
| Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. Scientific reports 2021 11 11 (1): 22488. Pavlenkova Zuzana, Varga Lukas, Borecka Silvia, Karhanek Miloslav, Huckova Miloslava, Skopkova Martina, Profant Milan, Gasperikova Danie |
| Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy. Epileptic disorders : international epilepsy journal with videotape 2021 Jul . Hu Xiaoyue, Tang Jihong, Hua Ying, Wang Yanping, Huang Ji |
| Molecular etiology study of hearing loss in 13 Chinese Han families. Frontiers in neurology 2022 12 13 1048218. Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J |
| [A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
| Preimplantation genetic testing for hereditary hearing loss in Chinese population. Journal of assisted reproduction and genetics 2023 4 . Bi Qingling, Huang Shasha, Wang Hui, Gao Xue, Ma Minyue, Han Mingyu, Lu Sijia, Kang Dongyang, Nourbakhsh Aida, Yan Denise, Blanton Susan, Liu Xuezhong, Yuan Yongyi, Yao Yuanqing, Dai |
| Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness. 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 2023 3 . Salame Malak, Bonnet Crystel, Moctar Ely Cheikh Mohamed, Brahim Selma Mohamed, Dedy Abdallahi, Vetah Ledour Abdel, Veten Fatimetou, Hamed Cheikh Tijani, Petit Christine, Houmeida Ahm |
| Next-generation sequencing for genetic testing of hearing loss populations. Clinica chimica acta; international journal of clinical chemistry 2023 12 552 117693. Lulu Wang, Gang Liu, Dingyuan Ma, Huasha Zeng, Yuguo Wang, Chunyu Luo, Jingjing Zhang, Zhengfeng |
| Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
| Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot. Translational pediatrics 2023 11 12 (10): 1835-1841. Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing |
| Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
| Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology. BMC medical genomics 2024 8 17 (1): 214. Xiuhua Xu, Sijie He, Gang Li, Ziwei Wang, Luyi Lv, Zhiming Zhao, Qian Li, Baojun Shi, Gui-Min H |
| Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients. Iranian journal of public health 2024 6 53 (2): 453-461. Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorif |
| Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia. Croatian medical journal 2024 6 65 (3): 198-208. Ivona Sansovi?, Ana-Maria Meaši?, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozi?, Mijana Kero, Sanda Huljev Frkovi?, Silvija Pušelj |
| Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China. Heliyon 2024 12 10 (20): e38802. Jingyu Li, Shiyu Zhou, Jiahong Pei, Wanzhen Li, Rongjie Cui, Xiaofei Ren, Jingru Wei, Qian Li, Baosheng Zhu, Yaliang Sa, Yunlong |
| Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration: A case report. World journal of clinical oncology 2024 11 15 (11): 1428-1434. Zhao-Na Song, Yan Cheng, Dan-Dan Wang, Ming-Jun Li, Xiang-Rong Zhao, Fa-Wang Li, Zhen Liu, Xiao-Ru Zhu, Xiao-Dong Jia, Yu-Fang Wang, Feng-Fan Lia |
| Correlation between the etiology of severe hearing loss and endolymphatic hydrops. 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 2024 10 . Sung-Min Park, Jin Hee Han, Jung Kyu Lee, Byung Se Choi, Yun Jung Bae, Byung Yoon Ch |
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