Cargando…

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional famil...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sun, Lianhua, Li, Xiaohua, Shi, Jun, Pang, Xiuhong, Hu, Yechen, Wang, Xiaowen, Wu, Hao, Yang, Tao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069774/ https://www.ncbi.nlm.nih.gov/pubmed/27759048 http://dx.doi.org/10.1038/srep35498

Ejemplares similares

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II
por: Yang, Shuzhi, et al.
Publicado: (2013)

Characterization of Spectrum, de novo Rate and Genotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans
por: Pang, Xiuhong, et al.
Publicado: (2014)

Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome
por: Kim, Shin Hye, et al.
Publicado: (2015)

A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome
por: Li, Sijun, et al.
Publicado: (2022)

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II
por: Wang, Jing, et al.
Publicado: (2021)

Molecular etiology study of hearing loss in 13 Chinese Han families
por: Sun, Lianhua, et al.
Publicado: (2022)

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families
por: Wang, Li, et al.
Publicado: (2018)

Waardenburg Syndrome Type 1
por: Agrawal, Rakshit, et al.
Publicado: (2022)

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations
por: Wang, Xue-Ping, et al.
Publicado: (2018)

Clinical and genetic investigation of families with type II Waardenburg syndrome
por: CHEN, YONG, et al.
Publicado: (2016)

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing
por: Yang, Tao, et al.
Publicado: (2013)

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene
por: Li, Li, et al.
Publicado: (2021)

Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family
por: Sólia-Nasser, Luciano, et al.
Publicado: (2016)

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II
por: Albarry, Maan Abdullah, et al.
Publicado: (2019)

Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness
por: Wu, Di, et al.
Publicado: (2020)

Waardenburg syndrome type 1 with unilateral glaucoma
por: Kavitha, Srinivasan, et al.
Publicado: (2022)

Waardenburg Syndrome Type-II in Twin Siblings: An Unusual Audio-Pigmentary Disorder
por: Masood, Sadia, et al.
Publicado: (2020)

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis
por: Thongpradit, Supranee, et al.
Publicado: (2020)

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome
por: Yu, Rong, et al.
Publicado: (2021)

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
por: Wang, Juan, et al.
Publicado: (2010)

Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
por: Ren, Shumin, et al.
Publicado: (2020)

Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
por: Zhang, Suli, et al.
Publicado: (2022)

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II
por: Chen, Sen, et al.
Publicado: (2020)

Waardenburg syndrome
por: Ramakrishnan, Iyer Lavanya, et al.
Publicado: (2023)

A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene
por: Yang, Shuzhi, et al.
Publicado: (2020)

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing
por: Li, Wu, et al.
Publicado: (2019)

A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I
por: Ma, Jing, et al.
Publicado: (2019)

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2
por: Guo, Min, et al.
Publicado: (2023)

A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients
por: Jalilian, Nazanin, et al.
Publicado: (2018)

Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy
por: Zhang, Xin-Lin, et al.
Publicado: (2020)

Shah-Waardenburg Syndrome
por: Mahmoudi, Abdelhalim, et al.
Publicado: (2013)

Syndrome de Waardenburg
por: Madiha, Mahfoudhi, et al.
Publicado: (2015)

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4
por: Wang, Xiong, et al.
Publicado: (2017)

A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I
por: Yang, Shu-Zhi, et al.
Publicado: (2023)

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

Carrier re-sequencing reveals rare but benign variants in recessive deafness genes
por: He, Longxia, et al.
Publicado: (2017)

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype–Phenotype Correlations in 27 Chinese Han Families
por: Zhai, Yi, et al.
Publicado: (2017)

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2
por: Baral, Viviane, et al.
Publicado: (2012)

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles
por: Liao, Yi-Chu, et al.
Publicado: (2015)

Waardenburg Syndrome Expression and Penetrance
por: Shelby, Myeshia V.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_ra774apb8cd6dbne9af300iroj