Associated Papers
A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.
Mohammadi A et al.
Iranian Journal of Basic Medical Sciences, 2020
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Kheir V et al.
Human Mutation, 2019
[Search for genetic markers for precise diagnostics of keratoconus].
Skorodumova LO et al.
Biomeditsinskaia Khimiia, 2019
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
Piret SE et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
26818911 (PubMed )
Supplement: JBMR-31-1207-s003.docx
Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.
Karolak JA et al.
Ophthalmic Genetics, 2016
Genetics of keratoconus: where do we stand?
Abu-Amero KK et al.
Journal of Ophthalmology, 2014
Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus.
Jeyabalan N et al.
Indian Journal of Ophthalmology, 2013
Insights into keratoconus from a genetic perspective.
Burdon KP et al.
Clinical & Experimental Optometry, 2013
The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population.
Guan T et al.
Gene, 2012
[Analyses of coding sequence point mutation and polymorphism of TGFBI gene in Chinese patients with keratoconus].
GUAN T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011
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