Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus (original) (raw)
A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries
John Dillon
Human Molecular Genetics, 2012
View PDFchevron_right
Genetics in Keratoconus – What is New?
Günther Grabner
The Open Ophthalmology Journal, 2017
View PDFchevron_right
Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32
Kwanghyuk Lee
Investigative Ophthalmology & Visual Science, 2008
View PDFchevron_right
Genetics of Keratoconus: Where Do We Stand?
Altaf Kondkar
Journal of Ophthalmology, 2014
View PDFchevron_right
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13
Enza Valente
Journal of Medical Genetics, 2004
View PDFchevron_right
Substitution at IL1RN and Deletion at SLC4A11 Segregating with Phenotype in Familial Keratoconus
Marzena Gajecka
Investigative Ophthalmology & Visual Science, 2013
View PDFchevron_right
Substitution atIL1RNand Deletion atSLC4A11Segregating with Phenotype in Familial Keratoconus
Marzena Gajecka
Investigative Ophthalmology & Visual Science, 2013
View PDFchevron_right
Genomic strategies to understand causes of keratoconus
Marzena Gajecka
Molecular Genetics and Genomics
View PDFchevron_right
Genetics and clinical characteristics of keratoconus
Metka Ravnik, Damjan Glavac
Acta dermatovenerologica Alpina, Pannonica, et Adriatica, 2010
View PDFchevron_right
Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities
Miltos Balidis
Ophthalmology and Therapy
View PDFchevron_right
Association of Genetic Variation With Keratoconus
Bennet McComish
JAMA Ophthalmology, 2020
View PDFchevron_right
Molecular and Histopathological Changes Associated with Keratoconus
Inas Helwa
BioMed Research International, 2017
View PDFchevron_right
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus
Colin Willoughby
Human molecular genetics, 2014
View PDFchevron_right
Association of KIF26B and COL4A4 gene polymorphisms with the risk of keratoconus in a sample of Iranian population
Ramin Saravani
International Ophthalmology, 2019
View PDFchevron_right
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation
Agnieszka Pollak
Molecular Vision, 2008
View PDFchevron_right
The genetics of keratoconus
Simon Dean
Clinical and Experimental Ophthalmology, 2001
View PDFchevron_right
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus
vishal shinde
Human Molecular Genetics, 2021
View PDFchevron_right
Linkage analysis in keratoconus: replication of locus 5q21. 2 and identification of other suggestive loci
Luigi Bisceglia
… ophthalmology & visual …, 2009
View PDFchevron_right
Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing
Marzena Gajecka
European journal of human genetics : EJHG, 2016
View PDFchevron_right
Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci
Marzena Gajecka
Investigative Opthalmology & Visual Science, 2019
View PDFchevron_right
Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population
Inas Helwa
Journal of negative results in biomedicine, 2015
View PDFchevron_right
Further evaluation of differential expression of keratoconus candidate genes in human corneas
Marzena Gajecka
PeerJ, 2020
View PDFchevron_right
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus
Marzena Gajecka
Molecular Vision, 2011
View PDFchevron_right
Mutational screening of VSX1 in keratoconus patients from the European population
Colin Willoughby
Eye, 2010
View PDFchevron_right
Genetics and Keratoconus
Atanu Majumdar
View PDFchevron_right
Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis
anne hughes
Molecular vision, 2006
View PDFchevron_right
Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482
Emin Usubov
BMC Ophthalmology, 2021
View PDFchevron_right
Familial Keratoconus with Cataract: Linkage to the Long Arm of Chromosome 15 and Exclusion of Candidate Genes
anne hughes
Investigative Opthalmology & Visual Science, 2003
View PDFchevron_right