Associated Papers
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
Guo J et al.
Human Genomics, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.
Shahid M et al.
Peerj, 2022
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.
Haddad A et al.
European Journal of Ophthalmology, 2021
Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
Lu S et al.
Theranostics, 2021
Screening and Functional Analysis of TEK Mutations in Chinese Children With Primary Congenital Glaucoma.
Qiao Y et al.
Frontiers in Genetics, 2021
The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.
Fan F et al.
Bmc Ophthalmology, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.
Liu T et al.
Molecular Vision, 2020
Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.
Liu X et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype.
Song N et al.
International Journal of Ophthalmology, 2019
Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.
Ou Z et al.
Bioscience Reports, 2018
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Kim YM et al.
Clinical Genetics, 2017
CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients.
Do T et al.
Journal of Glaucoma, 2016
Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.
Gong B et al.
The British Journal of Ophthalmology, 2015
CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment.
Chen X et al.
The British Journal of Ophthalmology, 2014
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
Li N et al.
Experimental Eye Research, 2011
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
Kim HJ et al.
Molecular Vision, 2011
[A novel mutation of CYP1B1 gene in primary congenital glaucoma].
Huang JF et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0