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List of works by Louise Porter

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome

scientific article

Brittle cornea syndrome: recognition, molecular diagnosis and management

scientific article published on 4 May 2013

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

scientific article

Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy

scientific article

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus ⬇️

scientific article published on 3 June 2014

Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2

scientific article published on 04 October 2011

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

scientific article published on 8 June 2015

Personalized ophthalmology.

scientific article

Predicting mortality using two renal function estimation methods in hospitalised stroke patients.

scientific article published on 4 November 2008

Unintended consequences and MRSA screening policy

scientific article published on 06 August 2010

Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes

article

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

scientific article published on 26 April 2013

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