Cargando…

Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole-exome sequencing

Retinitis pigmentosa (RP) is a common form of inherited retinal degeneration that causes progressive loss of vision or adult blindness, characterized by the impairment of rod and cone photoreceptors. At present, mutations in >60 pathogenic genes have been confirmed to cause RP. The predominant mo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fu, Yue-Chuan, Chen, Na, Qiu, Zi-Long, Liu, Lin, Shen, Jie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2018
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236299/ https://www.ncbi.nlm.nih.gov/pubmed/30280194 http://dx.doi.org/10.3892/mmr.2018.9530

Ejemplares similares

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family
por: Liu, Xiaowen, et al.
Publicado: (2010)

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
por: Huang, Xiu-Feng, et al.
Publicado: (2013)

Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family
por: ZHENG, SUI-LIAN, et al.
Publicado: (2015)

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa
por: Méndez-Vidal, Cristina, et al.
Publicado: (2013)

Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients
por: Ng, Tsz Kin, et al.
Publicado: (2019)

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
por: Garcia-Garcia, Gema, et al.
Publicado: (2011)

Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
por: Shu, Hai-Rong, et al.
Publicado: (2015)

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report
por: Xing, Dongjun, et al.
Publicado: (2020)

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families
por: Xing, Dongjun, et al.
Publicado: (2022)

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
por: Chen, Dezhong, et al.
Publicado: (2017)

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing
por: Kondo, Yukiko, et al.
Publicado: (2013)

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
por: Reurink, Janine, et al.
Publicado: (2021)

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series
por: Long, Xigui, et al.
Publicado: (2019)

Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson’s disease
por: Li, Tianbai, et al.
Publicado: (2020)

Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia
por: Hua, Juan, et al.
Publicado: (2018)

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
por: Dai, Hanjun, et al.
Publicado: (2008)

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect
por: Fan, Xinmiao, et al.
Publicado: (2019)

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy
por: Zhang, Mingqiu, et al.
Publicado: (2014)

Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2
por: He, Chenhao, et al.
Publicado: (2020)

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole‐exome sequencing
por: Yang, Yeran, et al.
Publicado: (2021)

A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome
por: Zhang, Yue, et al.
Publicado: (2021)

Whole-Exome Sequencing Identifies Novel Somatic Mutations in Chinese Breast Cancer Patients
por: Zhang, Yanfeng, et al.
Publicado: (2015)

The genomic mutation spectrums of breast fibroadenomas in Chinese population by whole exome sequencing analysis
por: Xie, Shang‐Nao, et al.
Publicado: (2019)

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II
por: Xu, Wenjun, et al.
Publicado: (2011)

Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease
por: Hao, Xiwei, et al.
Publicado: (2014)

Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing
por: Wang, Min, et al.
Publicado: (2020)

Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block
por: Dong, Yi, et al.
Publicado: (2021)

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
por: Liu, Hong-Yan, et al.
Publicado: (2017)

USH2A Mutation is Associated With Tumor Mutation Burden and Antitumor Immunity in Patients With Colon Adenocarcinoma
por: Sun, Yuanyuan, et al.
Publicado: (2021)

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients
por: Jiang, Lichun, et al.
Publicado: (2015)

Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease
por: Zhou, Yu, et al.
Publicado: (2014)

Novel mutations in the USH1C gene in Usher syndrome patients
por: Aparisi, María José, et al.
Publicado: (2010)

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population
por: Huang, Lulin, et al.
Publicado: (2018)

Whole exome sequencing in unexplained recurrent miscarriage families identified novel pathogenic genetic causes of euploid miscarriage
por: Wang, Xiyao, et al.
Publicado: (2023)

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis
por: Long, Xigui, et al.
Publicado: (2018)

Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing
por: Xu, Jing, et al.
Publicado: (2015)

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa
por: Gao, Meng, et al.
Publicado: (2016)

Identification of a novel mutation site in maturity-onset diabetes of the young in a Chinese family by whole-exome sequencing
por: Yu, Han, et al.
Publicado: (2019)

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report
por: Sun, Dan, et al.
Publicado: (2020)

Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing
por: Liu, Ying, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_o386gni0qsbba6ff6q73kk56f8