Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa.
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Jingjing Huang | Xing Liu | Hui Xiao | Qingjiong Zhang | Yimin Zhong | Jiali Li | L. Fang | Y. Ling | Liming Chen | Shufen Lin | X. Xiao | Jingyi Luo | Wei Wei
[1] T. Aung,et al. The genetics of angle closure glaucoma. , 2019, Experimental eye research.
[2] X. Xia,et al. A new rhodopsin R135W mutation induces endoplasmic reticulum stress and apoptosis in retinal pigment epithelial cells , 2019, Journal of cellular physiology.
[3] Mingkai Lin,et al. Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients , 2018, Acta ophthalmologica.
[4] K. Branham,et al. Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations , 2018, Ophthalmic genetics.
[5] Xueshan Xiao,et al. Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late‐onset high myopia based on exome sequencing , 2018, Experimental eye research.
[6] Minbin Yu,et al. Ocular Biometry in Primary Angle-Closure Glaucoma Associated with Retinitis Pigmentosa , 2017, Journal of ophthalmology.
[7] A. D. den Hollander,et al. Variants in the PRPF8 Gene are Associated with Glaucoma , 2017, Molecular Neurobiology.
[8] C. Zuo,et al. Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case Series , 2017, PloS one.
[9] S. R. Krishnadas,et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma , 2016, Nature Genetics.
[10] H. Deng,et al. Molecular genetics of the COL2A1-related disorders. , 2016, Mutation research. Reviews in mutation research.
[11] Xueshan Xiao,et al. Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes. , 2015, Investigative ophthalmology & visual science.
[12] Xueshan Xiao,et al. Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. , 2015, International journal of molecular medicine.
[13] E. Lemyre,et al. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma , 2015, European Journal of Human Genetics.
[14] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[15] Xueshan Xiao,et al. Evaluation of 12 myopia-associated genes in Chinese patients with high myopia. , 2015, Investigative ophthalmology & visual science.
[16] Tzeng-Ji Chen,et al. Increased Risk of Acute Angle Closure in Retinitis Pigmentosa: A Population-Based Case-Control Study , 2014, PloS one.
[17] Xueshan Xiao,et al. Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma. , 2014, Investigative ophthalmology & visual science.
[18] Jun Wang,et al. Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis. , 2013, Investigative ophthalmology & visual science.
[19] F. Riemslag,et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. , 2013, Ophthalmology.
[20] A. Mandal,et al. Stickler syndrome associated with congenital glaucoma , 2013, The Lancet.
[21] A. D. den Hollander,et al. A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen , 2012, Molecular vision.
[22] Jost B Jonas,et al. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma , 2012, Nature Genetics.
[23] C. Villanueva-Mendoza,et al. Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos , 2011, American journal of medical genetics. Part A.
[24] Y. Zhuo,et al. Clinical evidence in concurrence of retinitis pigmentosa and glaucoma. , 2011, Chinese medical journal.
[25] S. Letteboer,et al. Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma , 2011, European Journal of Human Genetics.
[26] Dorothy A. Thompson,et al. Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1 , 2010, British Journal of Ophthalmology.
[27] G. Holder,et al. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. , 2008, American journal of human genetics.
[28] G. Fishman,et al. Retinal nerve fiber layer defects in RP patients. , 2007, Investigative ophthalmology & visual science.
[29] Makoto Nakamura,et al. A case of occult macular dystrophy accompanying normal-tension glaucoma. , 2003, American journal of ophthalmology.
[30] Edwin M Stone,et al. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. , 2003, Human molecular genetics.
[31] U. Tepass,et al. Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis , 2002, Nature.
[32] J. Yates,et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes , 2000, The British journal of ophthalmology.
[33] G. Trope,et al. Primary angle closure glaucoma and retinitis pigmentosa , 1993, Acta ophthalmologica.
[34] L. Wu,et al. Retinitis pigmentosa associated with glaucoma--clinical analysis. , 1990, Yan ke xue bao = Eye science.
[35] A. Spallone. Stickler's syndrome: a study of 12 families. , 1987, The British journal of ophthalmology.
[36] M. Sachdev,et al. Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome? , 1985, The British journal of ophthalmology.
[37] G. Ciotola. [Association of glaucoma with retinitis pigmentosa]. , 1950, Bollettino d'oculistica.
[38] S. Gartner,et al. Retinitis pigmentosa associated with glaucoma. , 1949, American journal of ophthalmology.
[39] M. Walter,et al. Genomics and anterior segment dysgenesis: a review , 2014, Clinical & experimental ophthalmology.
[40] C. Omphroy. Sector retinitis pigmentosa and chronic angle-closure glaucoma: a new association. , 1984, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.