Associated Papers
Ocular genetics in the Japanese population.
Hotta Y et al.
Japanese Journal of Ophthalmology, 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
A Case of Clinically Atypical Gelatinous Drop-like Corneal Dystrophy With Unilateral Recurrent Amyloid Depositions.
Maeno S et al.
Cornea, 2022
Raman Spectroscopic Study of Amyloid Deposits in Gelatinous Drop-like Corneal Dystrophy.
Acri G et al.
Journal of Clinical Medicine, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Clinical and Ultrastructural Studies of Gelatinous Drop-Like Corneal Dystrophy (GDLD) of a Patient with TACSTD2 Gene Mutation.
Masmali A et al.
Journal of Ophthalmology, 2019
A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis.
Nagahara Y et al.
Human Genome Variation, 2019
Road to a Genetic Model of Gelatinous Drop-Like Corneal Dystrophy.
Tsujikawa M
Cornea, 2018
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family.
Morantes S et al.
Cornea, 2016
Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation.
Cabral-Macias J et al.
Cornea, 2016
Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
Jongkhajornpong P et al.
Human Genome Variation, 2015
Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization.
Nakatsukasa M et al.
Molecular Vision, 2011
Clinical and basic aspects of gelatinous drop-like corneal dystrophy.
Kawasaki S et al.
Developments in Ophthalmology, 2011
Chromosomal sharing in atypical cases of gelatinous drop-like corneal dystrophy.
Tsujikawa M et al.
Japanese Journal of Ophthalmology, 2010
Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
Paliwal P et al.
Molecular Vision, 2010
A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.
Jing Y et al.
Molecular Vision, 2009
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.
Yamada N et al.
Molecular Vision, 2009
Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.
Alavi A et al.
Investigative Ophthalmology & Visual Science, 2007
A missense mutation in the M1S1 gene found in a turkish patient with gelatinous droplike corneal dystrophy.
Yildirim N et al.
Cornea, 2007
Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families.
Zhang B et al.
Molecular Vision, 2007
Phenotypic investigation of cell junction-related proteins in gelatinous drop-like corneal dystrophy.
Takaoka M et al.
Investigative Ophthalmology & Visual Science, 2007
A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy.
Markoff A et al.
Molecular Vision, 2006
Genetics of corneal dystrophies: the evolving landscape.
Pieramici SF et al.
Current Opinion in Ophthalmology, 2006
Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene.
Akhtar S et al.
Eye (london, England), 2005
A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy.
Taniguchi Y et al.
American Journal of Ophthalmology, 2005
A spectrum of clinical manifestations of gelatinous drop-like corneal dystrophy in japan.
Ide T et al.
American Journal of Ophthalmology, 2004
Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.
Tian X et al.
American Journal of Ophthalmology, 2004
A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy.
Ha NT et al.
American Journal of Ophthalmology, 2003
A molecular perspective on corneal dystrophies.
Vincent AL et al.
Developments in Ophthalmology, 2003
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA.
Tsujikawa K et al.
American Journal of Medical Genetics, 2002
Two brothers with gelatinous drop-like dystrophy at different stages of the disease: role of mutational analysis.
Yoshida S et al.
American Journal of Ophthalmology, 2002
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.
Ren Z et al.
Human Genetics, 2002
[Corneal dystrophies in the light of modern molecular genetic research].
Auw-Hädrich C et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2002
[Gelatinous drop-like corneal dystrophy: mutation analysis of membrane component, chromosome 1, surface marker 1].
Yajima T et al.
Nippon Ganka Gakkai Zasshi, 2002
A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy.
Tasa G et al.
Investigative Ophthalmology & Visual Science, 2001
Rapid detection of M1S1 mutations by the protein truncation test.
Tsujikawa M et al.
Investigative Ophthalmology & Visual Science, 2000
Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.
Ha NT et al.
American Journal of Ophthalmology, 2000
Identification of the gene responsible for gelatinous drop-like corneal dystrophy.
Tsujikawa M et al.
Nature Genetics, 1999
Mutation detection and genetic counseling in retinoblastoma using heteroduplex analysis.
Zhang Q et al.
Japanese Journal of Ophthalmology, 1995