标题
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 23, Issue 20, Pages 5527-5535
出版商
Oxford University Press (OUP)
发表日期
2014-06-04
DOI
10.1093/hmg/ddu253
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
- (2013) Yi Lu et al. NATURE GENETICS
- Keratoconus in 18 pairs of twins
- (2012) Stephen J. Tuft et al. ACTA OPHTHALMOLOGICA
- Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness
- (2012) René Hoehn et al. HUMAN GENETICS
- Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
- (2011) Emma M.M. Burkitt Wright et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract
- (2011) Anne E. Hughes et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries
- (2011) Xiaohui Li et al. HUMAN MOLECULAR GENETICS
- Blue Sclera With and Without Corneal Fragility (Brittle Cornea Syndrome) in a Consanguineous Family Harboring ZNF469 Mutation (p.E1392X)
- (2010) Arif O. Khan ARCHIVES OF OPHTHALMOLOGY
- Absence of Pathogenic Mutations in VSX1 and SOD1 Genes in Patients With Keratoconus
- (2010) Mirna Štabuc-Šilih et al. CORNEA
- Collagen-related genes influence the glaucoma risk factor, central corneal thickness
- (2010) Eranga N. Vithana et al. HUMAN MOLECULAR GENETICS
- New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8
- (2010) Veronique Vitart et al. HUMAN MOLECULAR GENETICS
- Variation across the allele frequency spectrum
- (2010) Anna L Gloyn et al. NATURE GENETICS
- Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia
- (2010) Christopher T Johansen et al. NATURE GENETICS
- Corneal Biomechanical Metrics and Anterior Segment Parameters in Mild Keratoconus
- (2010) Bruno M. Fontes et al. OPHTHALMOLOGY
- Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness
- (2010) Yi Lu et al. PLoS Genetics
- The genetics of central corneal thickness
- (2009) D. P. Dimasi et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Mutational screening of VSX1 in keratoconus patients from the European population
- (2009) D P Dash et al. EYE
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome
- (2008) Almogit Abu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data
- (2008) Bingshan Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome
- (2008) Mathieu Firmann et al. BMC Cardiovascular Disorders
- Evolution of C2H2-zinc finger genes and subfamilies in mammals: Species-specific duplication and loss of clusters, genes and effector domains
- (2008) Hamsa D Tadepally et al. BMC EVOLUTIONARY BIOLOGY
- Penetrating keratoplasty: indications, outcomes and complications
- (2008) I Rahman et al. EYE
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