Xiangming Guo

State Key Laboratory Of Ophthalmology
Guangzhou, 510060, China

Last Updated: 09/26/2026

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Found 47 publications

Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome.

Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome.

Journal: Journal of ophthalmology

Published: November 30, 2018

Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.

Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.

Journal: Current eye research

Published: June 26, 2018

X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.

X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.

Journal: Molecular vision

Published: October 05, 2016

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.

Journal: PloS one

Published: September 19, 2016

Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus.

Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus.

Journal: Molecular medicine reports

Published: July 10, 2016

GPR143 mutations in Chinese patients with ocular albinism type 1.

GPR143 mutations in Chinese patients with ocular albinism type 1.

Journal: Molecular medicine reports

Published: January 25, 2016

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Journal: Investigative ophthalmology & visual science

Published: January 10, 2016

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.

Journal: Molecular vision

Published: December 05, 2015

Identification of MFRP Mutations in Chinese Families with High Hyperopia.

Identification of MFRP Mutations in Chinese Families with High Hyperopia.

Journal: Optometry and vision science : official publication of the American Academy of Optometry

Published: November 20, 2015

CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.

CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.

Journal: Translational psychiatry

Published: November 08, 2015

RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.

RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.

Journal: Molecular medicine reports

Published: October 08, 2015

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.

Journal: Molecular vision

Published: August 15, 2015

Showing 1-12 of 47

Last Updated: 09/26/2026