Efforts to decipher novel genes in 25 Iranian families presenting hereditary hearing loss using whole exome sequencing

被引：0
|
作者：
Babanejad, M. [1 ]
Mohseni, M. [1 ]
Arzhangi, S. [1 ]
Jalalvand, K. [1 ]
Daghagh, H. [1 ]
Edizadeh, M. [1 ]
Javadi, F. [1 ]
Najmabadi, H. [1 ]
Kahrizi, K. [1 ]
机构：
[1] Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
E-P02.12
引用
收藏
页码：847 / 847
页数：1
相关论文
共 50 条
  • [41] Analysis of Whole Exome Sequencing Data of Hereditary Lung Cancer Families Identifies Germline Copy Number Variations (Cnvs) in Multiple Genes
    Mandal, Diptasri
    Tran, Dinh-Van
    Termine, Kirsten
    Musolf, Anthony M.
    de Andrade, Mariza
    Schwartz, Ann G.
    Pinney, Susan M.
    Amos, Christopher I.
    Govindan, Ramaswamy
    Bailey-Wilson, Joan E.
    GENETIC EPIDEMIOLOGY, 2019, 43 (07) : 896 - 896
  • [42] Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing
    Zhang, Qin
    He, Hong-hui
    Janjua, Muhammad Usman
    Wang, Fang
    Yang, You-bo
    Mo, Zhao-hui
    Liu, Jun
    Jin, Ping
    ANDROLOGIA, 2020, 52 (07)
  • [43] Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing
    Xing, Guangqian
    Yao, Jun
    Wu, Bin
    Liu, Tingting
    Wei, Qinjun
    Liu, Cheng
    Lu, Yajie
    Chen, Zhibin
    Zheng, Heng
    Yang, Xiaonan
    Cao, Xin
    GENETICS IN MEDICINE, 2015, 17 (03) : 210 - 218
  • [44] Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
    Jung, Jinsei
    Choi, Hyun Been
    Koh, Young Ik
    Rim, John Hoon
    Choi, Hye Ji
    Kim, Sung Huhn
    Lee, Jae Hyun
    An, Jieun
    Kim, Ami
    Lee, Joon Suk
    Joo, Sun Young
    Yu, Seyoung
    Choi, Jae Young
    Kang, Tong Mook
    Gee, Heon Yung
    SCIENTIFIC REPORTS, 2018, 8
  • [45] Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
    Jinsei Jung
    Hyun Been Choi
    Young Ik Koh
    John Hoon Rim
    Hye Ji Choi
    Sung Huhn Kim
    Jae Hyun Lee
    Jieun An
    Ami Kim
    Joon Suk Lee
    Sun Young Joo
    Seyoung Yu
    Jae Young Choi
    Tong Mook Kang
    Heon Yung Gee
    Scientific Reports, 8
  • [46] Diagnostic Efficiency of Clinical Exome Solution Panel in patients with Hearing loss/Hereditary Deafness by using Next Generation Sequencing
    Temel, S. G.
    Alemdar, A.
    Yilmaz, M.
    Aliyeva, L.
    Sag, S. Ozemri
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 190 - 191
  • [47] Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
    Woo, Hae-Mi
    Park, Hong-Joon
    Baek, Jeong-In
    Park, Mi-Hyun
    Kim, Un-Kyung
    Sagong, Borum
    Koo, Soo Kyung
    BMC MEDICAL GENETICS, 2013, 14
  • [48] Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families
    Hu, Yan-Shan
    Song, Hui
    Li, Yin
    Xiao, Zi-Yun
    Li, Tuo
    INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2019, 12 (06) : 915 - 923
  • [49] Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip
    Dembic, Maja
    Andersen, Lars van Brakel
    Larsen, Martin Jakob
    Mechlenburg, Inger
    Soballe, Kjeld
    Hertz, Jens Michael
    MOLECULAR GENETICS AND GENOMICS, 2023, 298 (02) : 329 - 342
  • [50] Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families
    Yan-Shan Hu
    Hui Song
    Yin Li
    Zi-Yun Xiao
    Tuo Li
    International Journal of Ophthalmology, 2019, (06) : 915 - 923
12345