Cargando…

Mutation analysis of 12 genes in Chinese families with congenital cataracts

PURPOSE: To identify mutations in 12 genes in Chinese families with congenital cataracts. METHODS: Twenty five families with congenital cataracts involved in this study. The coding exons and adjacent intronic regions of 12 genes were analyzed by cycle sequencing, including the alpha A crystallin (CR...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sun, Wenmin, Xiao, Xueshan, Li, Shiqiang, Guo, Xiangming, Zhang, Qingjiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159683/ https://www.ncbi.nlm.nih.gov/pubmed/21866213

Ejemplares similares

Mutational screening of six genes in Chinese patients with congenital cataract and microcornea
por: Sun, Wenmin, et al.
Publicado: (2011)

Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene
por: Sun, Wenmin, et al.
Publicado: (2014)

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP
por: Xiao, Xueshan, et al.
Publicado: (2011)

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy
por: Chen, Yabin, et al.
Publicado: (2013)

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism
por: Fang, Shaohua, et al.
Publicado: (2008)

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
por: Xiao, Xueshan, et al.
Publicado: (2011)

Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma
por: Yang, Mei, et al.
Publicado: (2009)

Mutation spectrum of PAX6 in Chinese patients with aniridia
por: Zhang, Xiaohui, et al.
Publicado: (2011)

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
por: Yang, Huiqin, et al.
Publicado: (2012)

Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes
por: Huang, Li, et al.
Publicado: (2013)

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma
por: Zhang, Xiaohui, et al.
Publicado: (2009)

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review
por: Yang, Junxing, et al.
Publicado: (2021)

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

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia
por: Li, Jiali, et al.
Publicado: (2016)

A novel mutation of PAX6 in Chinese patients with new clinical features of Peters’ anomaly
por: Jia, Xiuhua, et al.
Publicado: (2010)

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
por: Li, Lin, et al.
Publicado: (2011)

Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese
por: Ji, Yanli, et al.
Publicado: (2010)

Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes
por: Yang, Huiqin, et al.
Publicado: (2011)

Spectrum, frequency, and genotype–phenotype of mutations in SPATA7
por: Xiao, Xueshan, et al.
Publicado: (2019)

X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia
por: Xiao, Xueshan, et al.
Publicado: (2016)

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy
por: Wang, Junwen, et al.
Publicado: (2022)

Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing
por: Sun, Wenmin, et al.
Publicado: (2020)

An evaluation of OPTC and EPYC as candidate genes for high myopia
por: Wang, Panfeng, et al.
Publicado: (2009)

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
por: Xiao, Xueshan, et al.
Publicado: (2019)

RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China
por: Li, Shiqiang, et al.
Publicado: (2019)

Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia
por: Yang, Zhikuan, et al.
Publicado: (2009)

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis
por: Xin, Wei, et al.
Publicado: (2015)

Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations
por: Li, Lin, et al.
Publicado: (2011)

Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa
por: Yi, Zhen, et al.
Publicado: (2020)

Evaluation of MFRP as a candidate gene for high hyperopia
por: Wang, Panfeng, et al.
Publicado: (2009)

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing
por: Xu, Yan, et al.
Publicado: (2015)

Evaluation of EGR1 as a candidate gene for high myopia
por: Li, Tuo, et al.
Publicado: (2008)

Novel RS1 mutations associated with X-linked juvenile retinoschisis
por: YI, JUNHUI, et al.
Publicado: (2012)

FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population
por: Yi, Shutong, et al.
Publicado: (2023)

Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement
por: Jiang, Yi, et al.
Publicado: (2021)

Corrigendum to “comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa” [EBioMedicine 56(2020)102792] DOI: https://doi.org/10.1016/j.ebiom.2020.102792
por: Yi, Zhen, et al.
Publicado: (2022)

Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families
por: Sun, Wenmin, et al.
Publicado: (2020)

Mutation profiles of congenital cataract genes in 21 northern Chinese families
por: Zhang, Xiao Hui, et al.
Publicado: (2018)

Mutation screening of crystallin genes in Chinese families with congenital cataracts
por: Zhuang, Jianfu, et al.
Publicado: (2019)

CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection
por: Ouyang, Jiamin, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_aviab2mqt1ri7i546ha2lnv1oc