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3.4.2 Gene studies (183)

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Display all abstracts in classification 3.4.2 Gene studies

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86081 Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis
Zazo-Seco C
Journal of Human Genetics 2020; 65: 487-491
86686 Evaluation of the association between five genetic variants and primary open-angle glaucoma in a Han Chinese population
Li K
Ophthalmic Genetics 2020; 41: 252-256
86603 Gene suppression of the ClC-2 chloride channel suppressed TGF-β1-induced proliferation, collagen synthesis, and collagen gel contraction mediated by conjunctival fibroblasts
Sun L
Ophthalmic Research 2020; 0:
86764 Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review
Boysen KB
Ophthalmic Genetics 2020; 41: 223-234
86337 Clinical practice guidelines for single gene glaucoma disorder
Writing Group For Practice Guidelines For Diagnosi
Chinese Journal of Medical Genetics 2020; 37: 329-333
86550 Genetic Variants Associated With the Onset and Progression of Primary Open-Angle Glaucoma
Mabuchi F
American Journal of Ophthalmology 2020; 215: 135-140
86222 Genomic Characterization of TBK1 Duplication in Korean Normal-tension Glaucoma Patients
Kim MJ
Journal of Glaucoma 2020; 29: 331-336
86863 Reprogramming to recover youthful epigenetic information and restore vision
Lu Y
Nature 2020; 588: 124-129
86729 The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma
Gupta V
Eye 2021; 35: 400-408
86201 Lysyl Oxidase Like 1: Biological roles and regulation
Greene AG
Experimental Eye Research 2020; 193: 107975
86291 Prevalence of Pseudoexfoliation Glaucoma Risk-associated Variants Within Lysyl Oxidase-like 1 in an Irish Population
Eivers SB
Journal of Glaucoma 2020; 29: 417-422
86404 Association of the CAV1-CAV2 locus with normal-tension glaucoma in Chinese and Japanese
Lu SY
Clinical and Experimental Ophthalmology 2020; 48: 658-665
86201 Lysyl Oxidase Like 1: Biological roles and regulation
Greene AG
Experimental Eye Research 2020; 193: 107975
86128 Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1
Schmitt HM
Human Molecular Genetics 2020; 29: 1986-1995
86409 Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran
Hozhabri H
American Journal of Medical Genetics, Part A 2020; 182: 957-961
86634 Targeted deletion of Cyp1b1 in pericytes results in attenuation of retinal neovascularization and trabecular meshwork dysgenesis
Falero-Perez J
Trends in developmental biology 2019; 12: 1-12
86581 Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
Thanikachalam S
Genes 2020; 11:
86573 A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation
Hosono K
Ophthalmic Genetics 2020; 41: 175-182
86154 Association of IL-10 gene promoter polymorphisms with susceptibility to pseudoexfoliation syndrome, pseudoexfoliative and primary open-angle glaucoma
Fakhraie G
BMC Medical Genetics 2020; 21: 32
86291 Prevalence of Pseudoexfoliation Glaucoma Risk-associated Variants Within Lysyl Oxidase-like 1 in an Irish Population
Eivers SB; Greene AG
Journal of Glaucoma 2020; 29: 417-422
86764 Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review
la Cour M
Ophthalmic Genetics 2020; 41: 223-234
86686 Evaluation of the association between five genetic variants and primary open-angle glaucoma in a Han Chinese population
Yang C
Ophthalmic Genetics 2020; 41: 252-256
86154 Association of IL-10 gene promoter polymorphisms with susceptibility to pseudoexfoliation syndrome, pseudoexfoliative and primary open-angle glaucoma
Parvini F
BMC Medical Genetics 2020; 21: 32
86201 Lysyl Oxidase Like 1: Biological roles and regulation
Eivers SB
Experimental Eye Research 2020; 193: 107975
86550 Genetic Variants Associated With the Onset and Progression of Primary Open-Angle Glaucoma
Mabuchi N
American Journal of Ophthalmology 2020; 215: 135-140

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