Cargando…

The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing

Purpose: To explore a method for the early, rapid and accurate diagnosis of Wolfram syndrome 1 (WS1) and further enrich the spectrum of WFS1 mutations in the Chinese population. Methods: We analyzed 279 patients with unexplained optic atrophy using next-generation sequencing. All patients underwent...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Dan-Dan, Hu, Fang-Yuan, Gao, Feng-Juan, Zhang, Sheng-Hai, Xu, Ping, Tian, Guo-Hong, Wu, Ji-Hong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6887651/ https://www.ncbi.nlm.nih.gov/pubmed/31850070 http://dx.doi.org/10.3389/fgene.2019.01217

Ejemplares similares

Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family
por: Qi, Yu-He, et al.
Publicado: (2017)

Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes
por: Dunn, Paul, et al.
Publicado: (2018)

Next-generation sequencing improves precision medicine in hearing loss
por: Imizcoz, T., et al.
Publicado: (2023)

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses
por: Gao, Feng-Juan, et al.
Publicado: (2020)

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
por: Bukowska-Olech, Ewelina, et al.
Publicado: (2020)

Editorial: Next Generation Sequencing (NGS) for Rare Diseases Diagnosis
por: Yang, Xiu-An
Publicado: (2021)

Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China
por: Lu, Wan, et al.
Publicado: (2020)

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
por: Lee, Evan M., et al.
Publicado: (2023)

Editorial: Next generation sequencing (NGS) for rare diseases diagnosis ‐ Volume II
por: Yang, Xiu-An, et al.
Publicado: (2023)

From next-generation sequencing to systematic modeling of the gut microbiome
por: Ji, Boyang, et al.
Publicado: (2015)

Case Report: Diagnosis of Human Alveolar Echinococcosis via Next-Generation Sequencing Analysis
por: Li, Ke, et al.
Publicado: (2021)

Applications for next-generation sequencing in fish ecotoxicogenomics
por: Mehinto, Alvine C., et al.
Publicado: (2012)

The Use of Next-Generation Sequencing in Movement Disorders
por: Krebs, Catharine E., et al.
Publicado: (2012)

Statistics for Next Generation Sequencing – Meeting Report
por: Wu, Hao, et al.
Publicado: (2012)

Wolfram Syndrome: Diagnosis, Management, and Treatment
por: Urano, Fumihiko
Publicado: (2016)

High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing
por: Zhang, Sen, et al.
Publicado: (2021)

Detection of Pathogenic Microbe Composition Using Next-Generation Sequencing Data
por: Zhao, Haiyong, et al.
Publicado: (2020)

Selecting Classification Methods for Small Samples of Next-Generation Sequencing Data
por: Zhu, Jiadi, et al.
Publicado: (2021)

A Density Peak-Based Method to Detect Copy Number Variations From Next-Generation Sequencing Data
por: Xie, Kun, et al.
Publicado: (2021)

Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis
por: Ren, Xiao-Tun, et al.
Publicado: (2019)

Next-Generation Sequencing for Binary Protein–Protein Interactions
por: Suter, Bernhard, et al.
Publicado: (2015)

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
por: Alías, Laura, et al.
Publicado: (2022)

Next Generation Sequencing Identify Rare Copy Number Variants in Non-syndromic Patent Ductus Arteriosus
por: Chen, Bo, et al.
Publicado: (2020)

Mammalian miRNA curation through next-generation sequencing
por: Brown, Miguel, et al.
Publicado: (2013)

Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance
por: Kanzi, Aquillah M., et al.
Publicado: (2020)

Integrating CRISPR-Cas and Next Generation Sequencing in Plant Virology
por: Mushtaq, Muntazir, et al.
Publicado: (2021)

Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings
por: Zhang, Xin, et al.
Publicado: (2022)

Application of Next-Generation Sequencing for Genetic Diagnosis in Neonatal Intensive Care Units: Results of a Multicenter Study in China
por: Zhu, Tianwen, et al.
Publicado: (2020)

Clinical Next Generation Sequencing for Precision Medicine in Cancer
por: Dong, Ling, et al.
Publicado: (2015)

Now and Next-Generation Sequencing Techniques: Future of Sequence Analysis Using Cloud Computing
por: Thakur, Radhe Shyam, et al.
Publicado: (2012)

Integration of Next-Generation Sequencing Based Multi-Omics Approaches in Toxicogenomics
por: Jayapal, Manikandan
Publicado: (2012)

Two-phase and family-based designs for next-generation sequencing studies
por: Thomas, Duncan C., et al.
Publicado: (2013)

Application of Next Generation Sequencing for personalized medicine for sudden cardiac death
por: Morini, Elena, et al.
Publicado: (2015)

Quality control of next-generation sequencing data without a reference
por: Trivedi, Urmi H., et al.
Publicado: (2014)

Next-Generation Sequencing in Newborn Screening: A Review of Current State
por: Remec, Ziga I., et al.
Publicado: (2021)

Investigation of chicken housekeeping genes using next-generation sequencing data
por: Hasanpur, Karim, et al.
Publicado: (2022)

MASQC: Next Generation Sequencing Assists Third Generation Sequencing for Quality Control in N6-Methyladenine DNA Identification
por: Yang, Siqian, et al.
Publicado: (2020)

The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy
por: Maione, Giovanna, et al.
Publicado: (2023)

Next generation genetics
por: Fenger, Mogens
Publicado: (2014)

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
por: Bacquet, Juliette, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_shade3r359emuhidcd0qvb087h