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ARVO Annual Meeting Abstract July 2018

Diagnosis strategies of Congenital Fibrosis of the Extraocular Muscles (CFEOM) Families

lin li; Qin Shen; XIAODONG JIAO; James F Hejtmancik; Xianqun Fan

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2932. doi:

ARVO Annual Meeting Abstract June 2017

Homozygosity mapping and Genetic analysis of autosomal recessive Retinal Dystrophies in 144 consanguineous Pakistani Families

lin li; Yabin Chen; Xiaodong Jiao; J. Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3816. doi:

Genetics May 2017

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

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Lin Li; Yabin Chen; Xiaodong Jiao; Chongfei Jin; Dan Jiang; Mukesh Tanwar; Zhiwei Ma; Li Huang; Xiaoyin Ma; Wenmin Sun; Jianjun Chen; Yan Ma; Oussama M'hamdi; Gowthaman Govindarajan; Patricia E. Cabrera; Jiali Li; Nikhil Gupta; Muhammad Asif Naeem; Shaheen N. Khan; Sheikh Riazuddin; Javed Akram; Radha Ayyagari; Paul A. Sieving; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: mutation, family, genes, homozygote, autosomal recessive inheritance, genetic analysis, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2218-2238. doi: 10.1167/iovs.17-21424

Includes: Supplemental Content

Genetics April 2017

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

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Jianjun Chen; Qiwei Wang; Patricia E. Cabrera; Zilin Zhong; Wenmin Sun; Xiaodong Jiao; Yabin Chen; Gowthaman Govindarajan; Muhammad Asif Naeem; Shaheen N. Khan; Muhammad Hassaan Ali; Muhammad Zaman Assir; Fawad Ur Rahman; Zaheeruddin A. Qazi; Sheikh Riazuddin; Javed Akram; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: genetics, molecular, mutation, cataract, family, genes, homozygote, autosomal recessive inheritance, screening, congenital cataract
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2207-2217. doi: 10.1167/iovs.17-21469

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous pedigree

Firoz Kabir; Xiaodong Jiao; Adam Ronchetti; Alexander Gottsch; Shaheen N khan; Tayyab Husnain; Sheikh Riazuddin; Duska J. Sidjanin; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5598. doi:

ARVO Annual Meeting Abstract June 2015

A common ancestral mutation in CRYBB3 identified in multiple consanguineous pedigrees with congenital cataracts

Xiaodong Jiao; Firoz Kabir; Arif Khan; Qiwei Wang; David Li; Shaheen N khan; Tayyab Husnain; Sheikh Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2527. doi:

Genetics April 2012

Evaluation of SNPs on Chromosome 2p with Primary Open Angle Glaucoma in the South Indian Cohort

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Suganthalakshmi Balasubbu; Subbaiah R. Krishnadas; Xiaodong Jiao; J. Fielding Hejtmancik; Periasamy Sundaresan
TAGS: glaucoma, chromosomes, cohort studies, open-angle glaucoma, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2012; 53(4):1861-1864. doi: 10.1167/iovs.11-8602

ARVO Annual Meeting Abstract March 2012

CDKN2B Polymorphism Is Associated With POAG In The Afro-caribbean Population Of Barbados

Xiaodong Jiao; Dan Cao; Anselm Hennis; Barbara Nemesure; M. Cristina Leske; James Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4494. doi:

ARVO Annual Meeting Abstract March 2012

FYCO1 Mutations And Function In Autosomal Recessive Congenital Cataract

James F. Hejtmancik; Jianjun Chen; Zhiwei Ma; Xiaodong Jiao; Wanda L. Kantorow; Eran Pras; Moshe Frydman; Sheikh Riazuddin; Marc Kantorow; S. Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1054. doi:

ARVO Annual Meeting Abstract March 2012

Lack Of Phenotypic Effect Of Triallelic Variation In Spata7 In A Family With Leber Congenital Amaurosis Resulting From Crb1 Mutations

Lin Li; Xueshan Xiao; Shiqiang Li; Xiaodong Jiao; J. Fielding Hejtmancik; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1581. doi:

Biochemistry and Molecular Biology July 2011

Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes

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Jianjun Chen; Nizar Smaoui; Monia Ben Hamed Hammer; Xiaodong Jiao; S. Amer Riazuddin; Shyana Harper; Nicholas Katsanis; Sheikh Riazuddin; Habiba Chaabouni; Eliot L. Berson; J. Fielding Hejtmancik
TAGS: mutation, family, genes
Invest. Ophthalmol. Vis. Sci.. 2011; 52(8):5317-5324. doi: 10.1167/iovs.11-7554

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2011

Mutation Spectrum And Frequency Of 15 Causative Genes In 87 Unrelated Chinese Patients With Leber Congenital Amaurosis

LIN LI; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Panfeng Wang; Xiangming Guo; Xiaodong Jiao; Qingjiong Zhang; J. Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3289. doi:

ARVO Annual Meeting Abstract April 2011

Association Of SNPs On Chromosome 2p With POAG In A South Indian Cohort

Suganthalakshmi Balasubbu; Subbiah R. Krishnadas; Xiaodong Jiao; J.Fielding Hejtmancik; Sundaresan Periasamy

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2421. doi:

Retina February 2010

Mutations in ASCC3L1 on 2q11.2 Are Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

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Ningdong Li; Han Mei; Ian M. MacDonald; XiaoDong Jiao; J. Fielding Hejtmancik
TAGS: mutation, family, genes, retinitis pigmentosa, chinese people, chinese (other dialects)
Invest. Ophthalmol. Vis. Sci.. 2010; 51(2):1036-1043. doi: 10.1167/iovs.09-3725

Biochemistry and Molecular Biology April 2009

High Myopia Is Not Associated with the SNPs in the TGIF , Lumican, TGFB1 , and HGF Genes

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Panfeng Wang; Shiqiang Li; Xueshan Xiao; Xiaoyun Jia; Xiaodong Jiao; Xiangming Guo; Qingjiong Zhang
TAGS: genes, interleukin-10, myopia, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2009; 50(4):1546-1551. doi: 10.1167/iovs.08-2537

Anatomy and Pathology/Oncology September 2007

Analysis of Ocular Hypopigmentation in Rab38 cht/cht Mice

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Brian P. Brooks; Denise M. Larson; Chi-Chao Chan; Sten Kjellstrom; Richard S. Smith; Mary A. Crawford; Lynn Lamoreux; Marjan Huizing; Richard Hess; Xiaodong Jiao; J. Fielding Hejtmancik; Arvydas Maminishkis; Simon W. M. John; Ronald Bush; William J. Pavan
TAGS: hypopigmentation disorder, melanosomes, eye, mice, proteins, immune reconstitution inflammatory syndrome
Invest. Ophthalmol. Vis. Sci.. 2007; 48(9):3905-3913. doi: 10.1167/iovs.06-1464

Retina December 2004

Genetic Linkage of Snowflake Vitreoretinal Degeneration to Chromosome 2q36

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Xiaodong Jiao; Robert Ritter, III; J. Fielding Hejtmancik; Albert O. Edwards
TAGS: chromosomes, dna, family, genes, genetic linkage, tissue degeneration
Invest. Ophthalmol. Vis. Sci.. 2004; 45(12):4498-4503. doi: 10.1167/iovs.04-0722

Biochemistry and Molecular Biology July 2001

The Metabolism of Fatty Acids in Human Bietti Crystalline Dystrophy

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June Lee; Xiaodong Jiao; J. Fielding Hejtmancik; Muriel Kaiser-Kupfer; William A. Gahl; Thomas C. Markello; Juanru Guo; Gerald J. Chader
TAGS: fatty acids, metabolism, fetal alcohol syndrome, fibroblasts, cd95 antigens, fatty-acid synthase, lymphocyte, radioactivity, lipids, crystal structure
Invest. Ophthalmol. Vis. Sci.. 2001; 42(8):1707-1714. doi:

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Diagnosis strategies of Congenital Fibrosis of the Extraocular Muscles (CFEOM) Families

Homozygosity mapping and Genetic analysis of autosomal recessive Retinal Dystrophies in 144 consanguineous Pakistani Families

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous pedigree

A common ancestral mutation in CRYBB3 identified in multiple consanguineous pedigrees with congenital cataracts

Evaluation of SNPs on Chromosome 2p with Primary Open Angle Glaucoma in the South Indian Cohort

CDKN2B Polymorphism Is Associated With POAG In The Afro-caribbean Population Of Barbados

FYCO1 Mutations And Function In Autosomal Recessive Congenital Cataract

Lack Of Phenotypic Effect Of Triallelic Variation In Spata7 In A Family With Leber Congenital Amaurosis Resulting From Crb1 Mutations

Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes

Mutation Spectrum And Frequency Of 15 Causative Genes In 87 Unrelated Chinese Patients With Leber Congenital Amaurosis

Association Of SNPs On Chromosome 2p With POAG In A South Indian Cohort

Mutations in ASCC3L1 on 2q11.2 Are Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

High Myopia Is Not Associated with the SNPs in the TGIF , Lumican, TGFB1 , and HGF Genes

Analysis of Ocular Hypopigmentation in Rab38 cht/cht Mice

Genetic Linkage of Snowflake Vitreoretinal Degeneration to Chromosome 2q36

The Metabolism of Fatty Acids in Human Bietti Crystalline Dystrophy

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