Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Souzeau E et al.
Molecular Genetics & Genomic Medicine, 2022
Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.
Huang Y et al.
Annals of Translational Medicine, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.
Safari I et al.
International Ophthalmology, 2020
A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.
Zhang J et al.
Aging, 2019
Phenotype and genotype analysis in patients with macular corneal dystrophy.
Nowinska AK et al.
The British Journal of Ophthalmology, 2014
Macular corneal dystrophy and associated corneal thinning.
Dudakova L et al.
Eye (london, England), 2014
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.
Liu Z et al.
Cornea, 2010
[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].
Qi YH et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2010
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy.
Birgani SA et al.
Molecular Vision, 2009
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.
Gruenauer-Kloevekorn C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2008
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.
Liskova P et al.
The British Journal of Ophthalmology, 2008
[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].
Tian X et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
El-Ashry MF et al.
American Journal of Ophthalmology, 2005
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.
Aldave AJ et al.
American Journal of Ophthalmology, 2004
Novel mutations in the CHST6 gene causing macular corneal dystrophy.
Abbruzzese C et al.
Clinical Genetics, 2004
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.
Niel F et al.
Investigative Ophthalmology & Visual Science, 2003
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
El-Ashry MF et al.
Investigative Ophthalmology & Visual Science, 2002