Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population. - Wikidata - wikimedia - TriplyDB

Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.

Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.

http://www.wikidata.org/entity/Q34189721

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APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia SLITRK6 mutations cause myopia and deafness in humans and mice Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia Genome-wide association studies of refractive error and myopia, lessons learned, and implications for the future Genetic variants on chromosome 1q41 influence ocular axial length and high myopia Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error Association study of 15q14 and 15q25 with high myopia in the Han Chinese population.Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population.Genome-wide association studies: applications and insights gained in Ophthalmology.Exome sequencing reveals CCDC111 mutation associated with high myopia.Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2 Current gene discovery strategies for ocular conditions Replication study of significant single nucleotide polymorphisms associated with myopia from two genome-wide association studies.An association study of the COL1A1 gene and high myopia in a Han Chinese population.Enlargement of the Axial Length and Altered Ultrastructural Features of the Sclera in a Mutant Lumican Transgenic Mouse Model.Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia.A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans.Variation in PTCHD2, CRISP3, NAP1L4, FSCB, and AP3B2 associated with spherical equivalent.Association study of fibroblast growth factor 10 (FGF10) polymorphisms with susceptibility to extreme myopia in a Japanese population.X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies.Exome Sequence Analysis of 14 Families With High Myopia.Genetic susceptibility and mechanisms for refractive error.Association of IGF1 and IGF1R gene polymorphisms with high myopia in a Han Chinese population.Association between SCO2 mutation and extreme myopia in Japanese patients.Association study of IGF1 polymorphisms with susceptibility to high myopia in a Japanese population.Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.Insight into the molecular genetics of myopia.Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia.Allergic Conjunctivitis-induced Retinal Inflammation Promotes Myopia Progression.CCDC102B confers risk of low vision and blindness in high myopia.Update on the epidemiology and genetics of myopic refractive error Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

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P2860

Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.

http://www.wikidata.org/entity/Q34189721

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2011 nî lūn-bûn

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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

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American Journal of Human Genetics

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Genetic variants at 13q12.12 a ...... in the Han Chinese population.

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Anquan Xue

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Bin Chen

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Bo Gong

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Charles Yang

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Chi Pui Pang

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Dean Li

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Dingding Zhang

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Fang Lu

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Fanjun Shi

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Fei He

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P2860

Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP)

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

PLINK: a tool set for whole-genome association and population-based linkage analyses

Principal components analysis corrects for stratification in genome-wide association studies

HTRA1 promoter polymorphism in wet age-related macular degeneration

A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1

Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese

Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC

Retinal detachment.

Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping.

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