Xiangming Guo

发表

Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.

Hui Jiang, Jun Wang, Jianguo Zhang, 2015, Molecular medicine reports.

Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2006, Molecular vision.

Sequence variations of GRM6 in patients with high myopia

Xiaoyu Xu, Xueshan Xiao, Shi-qiang Li, 2009, Molecular vision.

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2011, PloS one.

Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2013, Molecular medicine reports.

CRX variants in cone-rod dystrophy and mutation overview.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, Biochemical and biophysical research communications.

The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2007, Investigative ophthalmology & visual science.

Replication study supports CTNND2 as a susceptibility gene for high myopia.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2011, Investigative ophthalmology & visual science.

Replication study of significant single nucleotide polymorphisms associated with myopia from two genome-wide association studies

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2011, Molecular vision.

Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2016, Experimental eye research.

Novel RS1 mutations associated with X-linked juvenile retinoschisis

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, International journal of molecular medicine.

Common variants in chromosome 4q25 are associated with myopia in Chinese adults

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians.

Evaluation of MFRP as a candidate gene for high hyperopia

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2009, Molecular vision.

Identification of MFRP Mutations in Chinese Families with High Hyperopia

Hui Jiang, Jianguo Zhang, Ye Yin, 2015, Optometry and vision science : official publication of the American Academy of Optometry.

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2015, PloS one.

Mutational screening of six genes in Chinese patients with congenital cataract and microcornea

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2011, Molecular vision.

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

Xiangming Guo, Y. Meng, Liqin Huang, 2019, Journal of ophthalmology.

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

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2016, Molecular medicine reports.

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

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2015, Investigative ophthalmology & visual science.

Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.

J. Hejtmancik, Xueshan Xiao, Qingjiong Zhang, 2004, Molecular vision.

Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2009, Molecular vision.

Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2014, Investigative ophthalmology & visual science.

Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.

Shi-qiang Li, Qingjiong Zhang, Xiangming Guo, 2012, International journal of molecular medicine.

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

J. Li, Xueshan Xiao, Shi-qiang Li, 2017, PloS one.

KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2015, British Journal of Ophthalmology.

KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2015, British Journal of Ophthalmology.

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2009, Molecular Vision.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2008, Molecular vision.

A novel mutation of PAX6 in Chinese patients with new clinical features of Peters’ anomaly

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2010, Molecular vision.

Mutations in NYX of individuals with high myopia, but without night blindness

Shi-zhou Huang, J. Hejtmancik, Xueshan Xiao, 2007, Molecular vision.

PAX6 mutations identified in 4 of 35 families with microcornea.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2012, Investigative ophthalmology & visual science.

Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2014, International journal of molecular medicine.

CSNB1 in Chinese families associated with novel mutations inNYX

Shi-qiang Li, Qingjiong Zhang, Xiangming Guo, 2006, Journal of Human Genetics.

KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.

Shi-qiang Li, Panfeng Wang, Qingjiong Zhang, 2011, International journal of molecular medicine.

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1

Juan Wang, Xueshan Xiao, Shi-qiang Li, 2010, Molecular vision.

GPR143 mutations in Chinese patients with ocular albinism type 1

Xiuhua Jia, Shi-qiang Li, Xiangming Guo, 2017, Molecular medicine reports.

Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia

Q. Kong, Yong-Gang Yao, Xueshan Xiao, 2010, Molecular vision.

Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2014, JAMA ophthalmology.

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing

Hui Jiang, Jun Wang, Jianguo Zhang, 2015, Molecular vision.

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2013, Molecular vision.

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2016, Experimental eye research.

Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype

Shi-qiang Li, Qingjiong Zhang, Xiangming Guo, 2001, Ophthalmic genetics.

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, Molecular vision.

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

Xueshan Xiao, Shi-qiang Li, Xiangming Guo, 2018, Current eye research.

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2015, International journal of molecular medicine.

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

Hui Jiang, Jun Wang, Jianguo Zhang, 2014, Human Genetics.

Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.

Jun Wang, Zhihong Zhu, Jianguo Zhang, 2013, Investigative ophthalmology & visual science.

Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, Molecular medicine reports.

Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2014, PloS one.

Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2006, Journal of Human Genetics.

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

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2016, Molecular vision.

Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis

Jie-ming Li, Shi-qiang Li, Xiangming Guo, 2014, Molecular vision.

Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.

Hui Jiang, Jun Wang, Jianguo Zhang, 2015, Investigative ophthalmology & visual science.

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.

Hui Jiang, Jun Wang, Jianguo Zhang, 2014, International journal of molecular medicine.

Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

Jun Wang, Zhihong Zhu, Jianguo Zhang, 2013, PloS one.

Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy

Shi-qiang Li, Wenmin Sun, Panfeng Wang, 2013, Neuroscience Letters.

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2011, Molecular vision.

Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2011, Biochemical and biophysical research communications.

Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa.

Shi-qiang Li, Panfeng Wang, Qingjiong Zhang, 2010, Biochemical and biophysical research communications.

Mutations in RPGR and RP2 of Chinese Patients with X-Linked Retinitis Pigmentosa

Juan Wang, Xueshan Xiao, Shi-qiang Li, 2010, Current eye research.

Identification of Novel Mutations in the XLRS1 Gene in Chinese Patients with X-linked Juvenile Retinoschisis

Juan Wang, Xiangming Guo, Y. Deng, 2007, Current Eye Research.

Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China

Shi-qiang Li, Qingjiong Zhang, Xiangming Guo, 2009, Molecular vision.

Mutation spectrum of PAX6 in Chinese patients with aniridia

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2011, Molecular vision.

FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2007, Molecular vision.

Mutation analysis of 12 genes in Chinese families with congenital cataracts

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2011, Molecular vision.

Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2006, Journal of Human Genetics.

Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2014, Investigative ophthalmology & visual science.

An evaluation of OPTC and EPYC as candidate genes for high myopia

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2009, Molecular vision.

Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2015, Investigative ophthalmology & visual science.

Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients

Q. Kong, A. Salas, Yong-Gang Yao, 2011, PloS one.

mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population.

Shi-qiang Li, Panfeng Wang, Qingjiong Zhang, 2010, Biochemical and biophysical research communications.

Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

Yong-Gang Yao, Qingjiong Zhang, Xiangming Guo, 2012, Journal of Translational Medicine.

The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.

Q. Kong, Yong-Gang Yao, Shi-qiang Li, 2010, Biochemical and biophysical research communications.

Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy

Ya-ping Zhang, Yong-Gang Yao, Qingjiong Zhang, 2010, neurogenetics.

Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2010, Molecular vision.

Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.

Yong-Gang Yao, Qingjiong Zhang, Xiangming Guo, 2009, Biochemical and biophysical research communications.

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

H. Bandelt, Ya-ping Zhang, Yong-Gang Yao, 2008, American journal of human genetics.

Linkage analysis of two families with X-linked recessive congenital motor nystagmus

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2006, Journal of Human Genetics.

Screening for NDP Mutations in 44 Unrelated Patients with Familial Exudative Vitreoretinopathy or Norrie Disease

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2012, Current eye research.

A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612.

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2005, Molecular vision.

A new locus for autosomal dominant high myopia maps to 4 q 22-q 27 between D 4 S 1578 and D 4 S 1612

J. Hejtmancik, Xueshan Xiao, Shi-qiang Li, 2005 .

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

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2016, Molecular vision.

Cone-Rod Dysfunction Is a Sign of Early-Onset High Myopia

Xueshan Xiao, Panfeng Wang, Qingjiong Zhang, 2013, Optometry and vision science : official publication of the American Academy of Optometry.

[Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients].

Li Guo, Yan Wang, Shi-qiang Li, 2005, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2013, Molecular vision.

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

Xiaoling Liang, Yantao Wei, Jie-ming Li, 2016, Molecular vision.

High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes.

X. Jiao, Xueshan Xiao, Shi-qiang Li, 2009, Investigative ophthalmology & visual science.

Nonsyndromic high myopia in a Chinese family mapped to MYP1: linkage confirmation and phenotypic characterization.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2010, Archives of ophthalmology.

Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia

X. Jiao, J. Hejtmancik, Shi-qiang Li, 2012, Molecular vision.

Evaluation of EGR1 as a candidate gene for high myopia

Y. Xing, Xueshan Xiao, Shi-qiang Li, 2008, Molecular Vision.

[The SNPs analysis of encoding sequence of interacting factor gene in Chinese population].

Wei Li, Li Guo, Jiang Li, 2003, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma

Jingjing Huang, Xiangming Guo, Zhen Mao, 2009, Molecular vision.

Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2007, Journal of Human Genetics.

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2011, Molecular vision.

Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus

Shi-qiang Li, Xiangming Guo, Xiao-yun Jia, 2017, Molecular medicine reports.

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1

X. Jiao, J. Hejtmancik, Xueshan Xiao, 2012, Journal of Human Genetics.

A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2012, Human Genetics.

Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation

Panfeng Wang, Qingjiong Zhang, Xiangming Guo, 2007, Graefe's Archive for Clinical and Experimental Ophthalmology.

Screening for NDP Mutations in 44 Unrelated Patients with Familial Exudative Vitreoretinopathy or Norrie Disease

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2012, Current eye research.

Replication study supports CTNND2 as a susceptibility gene for high myopia.

Xueshan Xiao, Shi-qiang Li, Wenmin Sun, 2011, Investigative ophthalmology & visual science.

Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2014, Investigative ophthalmology & visual science.

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Xueshan Xiao, Shi-qiang Li, Qingjiong Zhang, 2015, International journal of molecular medicine.

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

Hui Jiang, Jun Wang, Jianguo Zhang, 2014, Human Genetics.

Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.

Yong-Gang Yao, Qingjiong Zhang, Xiangming Guo, 2009, Biochemical and biophysical research communications.

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

H. Bandelt, Ya-ping Zhang, Yong-Gang Yao, 2008, American journal of human genetics.

Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.

Xueshan Xiao, Shi-qiang Li, Panfeng Wang, 2012, Molecular medicine reports.

Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia

Q. Kong, Yong-Gang Yao, Xueshan Xiao, 2010, Molecular vision.