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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 20, 2025. (Total: 235500Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Deafness and KCNJ10[original query]
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
International journal of pediatric otorhinolaryngology 2010 Sep 74 (9): 1049-53.
Jonard Laurence, Niasme-Grare Magali, Bonnet Crystel, Feldmann Delphine, Rouillon Isabelle, Loundon Natalie, Calais Catherine, Catros Hélène, David Albert, Dollfus Hélène, Drouin-Garraud Valérie, Duriez Françoise, Eliot Marie Madeleine, Fellmann Florence, Francannet Christine, Gilbert-Dussardier Brigitte, Gohler Catherine, Goizet Cyril, Journel Hubert, Mom Thierry, Thuillier-Obstoy Marie-Françoise, Couderc Remy, Garabédian Eréa Noël, Denoyelle Françoise, Marlin Sandri
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
The Journal of physiology 2011 Apr 589 (Pt 7): 1681-9.
Thompson Dorothy A, Feather Sally, Stanescu Horia C, Freudenthal Bernard, Zdebik Anselm A, Warth Richard, Ognjanovic Milos, Hulton Sally A, Wassmer Evangeline, van't Hoff William, Russell-Eggitt Isabelle, Dobbie Angus, Sheridan Eamonn, Kleta Robert, Bockenhauer Detl
Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2012 Jun 146 (6): 972-8.
Chen Kaitian, Wang Xianren, Sun Liang, Jiang Hongy
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
BMC medical genetics 2013 14 85.
Landa Priya, Differ Ann-Marie, Rajput Kaukab, Jenkins Lucy, Bitner-Glindzicz Mar
Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct.
The Journal of molecular diagnostics : JMD 2018 10 21 (1): 138-148.
Lin Yin-Hung, Wu Chen-Chi, Lin Yi-Hsin, Lu Ying-Chang, Chen Chih-Shan, Liu Tien-Chen, Chen Pei-Lung, Hsu Chuan-J
Analysis of mutations in the FOXI1 and KCNJ10 genes in infants with a single-allele SLC26A4 mutation.
Bioscience trends 2019 6 13 (3): 261-266.
Zhao Xuelei, Cheng Xiaohua, Huang Lihui, Wang Xianlei, Wen Cheng, Wang Xueyao, Zhao Lipi
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.
Frontiers in genetics 2021 12 637096.
Cai Luhang, Liu Ya, Xu Yaping, Yang Hang, Lv Lihui, Li Yang, Chen Qiongqiong, Lin Xiaojiang, Yang Yihui, Hu Guangwei, Zheng Guofeng, Zhou Jing, Qian Qiyong, Xu Mei-Ai, Fang Jin, Ding Jianjun, Chen Wei, Gao Jio
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