Targeted Next Generation Sequencing for nonsyndromic hearing loss

被引：0
|
作者：
Cesca, F. [1 ]
Bettella, E. [1 ]
Polli, R. [1 ]
Leonardi, E. [1 ]
Aspromonte, M. C. [1 ]
Sicilian, B. [2 ]
Croatto, D. [2 ]
Aimoni, C. [3 ]
Ferlini, A. [4 ]
Bigoni, S. [4 ]
Santarelli, R. [5 ,6 ]
Murgia, A. [1 ,6 ]
机构：
[1] Univ Padua, Dept Womens & Childrens Hlth, Lab Mol Genet Neurodev, Padua, Italy
[2] Casa Cura Trieste, Med Ctr Phoniatr, Padua, Italy
[3] Ferrara Univ Hosp, ENT & Audiol Dept, Ferrara, Italy
[4] Ferrara Univ Hosp, Med Genet Unit, Ferrara, Italy
[5] Treviso Reg Hosp, Audiol & Phoniatr Serv, Treviso, Italy
[6] Univ Padua, Dept Neurosci, Padua, Italy
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：
P02.44D
引用
收藏
页码：192 / 192
页数：1
相关论文
共 50 条
  • [21] Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit
    Costales, Maria
    Dineiro, Marta
    Cifuentes, Guadalupe A.
    Capin, Raquel
    Otero, Andrea
    Viejo-Diaz, Monica
    Plasencia, Ana
    Nunez, Faustino
    Ramon Gomez, Justo
    Luis Llorente, Jose
    Cadinanos, Juan
    Cabanillas, Ruben
    [J]. ACTA OTORRINOLARINGOLOGICA ESPANOLA, 2020, 71 (03): : 166 - 174
  • [22] Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward
    Lebeko, Kamogelo
    Bosch, Jason
    Noubiap, Jean Jacques Nzeale
    Dandara, Collet
    Wonkam, Ambroise
    [J]. PAN AFRICAN MEDICAL JOURNAL, 2015, 20
  • [23] Interpretation of next-generation sequencing results targeting pediatric sensorineural hearing loss
    Clay, S. M.
    Evans, A.
    Hicks, C.
    Tsien, F.
    [J]. AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 2023, 365 : S276 - S276
  • [24] Genetic testing of hearing loss related genes in Slovene patients with next generation sequencing
    Podkrajsek, K. Trebusak
    Obreza, T.
    Kovac, J.
    Bertok, S.
    Battelino, T.
    Battelino, S.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 51 - 51
  • [25] Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss
    Xiang, Yanbao
    Xu, Chenyang
    Xu, Yunzhi
    Zhou, Lili
    Tang, Shaohua
    Xu, Xueqin
    [J]. JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2022, 36 (11)
  • [26] Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing
    Wu, Xiaohui
    Gao, Xingqiang
    Han, Peng
    Zhou, Yulin
    [J]. ACTA OTO-LARYNGOLOGICA, 2019, 139 (03) : 243 - 250
  • [27] Hemangioblastoma: A Targeted Next Generation Sequencing Study
    Yoon, Esther C.
    Jian Zhuge
    Kleinman, George
    Fallon, John T.
    Zhong, Minghao
    [J]. MODERN PATHOLOGY, 2017, 30 : 440A - 440A
  • [28] Hemangioblastoma: A Targeted Next Generation Sequencing Study
    Yoon, Esther C.
    Jian Zhuge
    Kleinman, George
    Fallon, John T.
    Zhong, Minghao
    [J]. LABORATORY INVESTIGATION, 2017, 97 : 440A - 440A
  • [29] Nonsyndromic hereditary hearing loss
    Li, XYC
    Friedman, RA
    [J]. OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA, 2002, 35 (02) : 275 - +
  • [30] Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss
    Sivakumaran, Theru A.
    Husami, Ammar
    Kissell, Diane
    Zhang, Wenying
    Keddache, Mehdi
    Black, Angela P.
    Tinkle, Brad T.
    Greinwald, John H., Jr.
    Zhang, Kejian
    [J]. OTOLARYNGOLOGY-HEAD AND NECK SURGERY, 2013, 148 (06) : 1007 - 1016
12345