Filtros de búsqueda

Lista de obras de

A Genetic Variant in TGFBR3-CDC7 Is Associated with Visual Field Progression in Primary Open-Angle Glaucoma Patients from Singapore.

artículo científico publicado en 2015

A Survey of DNA Variation ofC2ORF71in Probands with Progressive Autosomal Recessive Retinal Degeneration and Controls

artículo científico publicado en 2011

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

artículo científico publicado en 2015

A common variant near TGFBR3 is associated with primary open angle glaucoma.

artículo científico publicado en 2015

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

artículo científico publicado en 2015

A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy

artículo científico publicado en 2016

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

artículo científico publicado en 2011

Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control.

artículo científico publicado en 2005

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina

artículo científico publicado en 2011

Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

scientific article published on 11 December 2020

Expression of ADAMTS metalloproteinases in the retinal pigment epithelium derived cell line ARPE-19: transcriptional regulation by TNFalpha.

artículo científico publicado en 2003

Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients

artículo científico publicado en 2003

FGF-2 release from the lens capsule by MMP-2 maintains lens epithelial cell viability.

artículo científico publicado en 2007

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

artículo científico publicado en 2017

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

artículo científico publicado en 2016

Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies

scientific article published on 06 June 2019

Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).

artículo científico publicado en 2009

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

artículo científico publicado en 2011

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

artículo científico publicado en 2010

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

artículo científico publicado en 2009

TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights

artículo científico publicado en 2005

The spatial organization of intra-tumour heterogeneity and evolutionary trajectories of metastases in hepatocellular carcinoma

scientific article published on 27 February 2017