Dr Louise Porter

FRCOphth - Royal College of Ophthalmologists, Londres

PhD génétique ophtalmologique - Université de Manchester

MSc science de la vision - Université de Manchester

MBChB médecine - Université de Dundee

BMSc pharmacologie et neurosciences - Université de Dundee

Cabinet - Strasbourg

Maître de conférences des universités-praticien hospitalier - Centre Hospitalier Universitaire (CHU) de Strasbourg - Génétique médicale

Maître de conférences des universités - St Paul's Eye Unit, Royal Liverpool University Hospitals and Alder Hey Children's Hospital - Liverpool - Ophtalmologie

Interne - Manchester Royal Eye Hospital, University of Manchester - Ophtalmologie

Membre - Association for Research In Vision and Ophthalmology (ARVO)

Epigenetic Age Acceleration Is Not Associated with Age-Related Macular Degeneration. International Journal of Molecular Sciences - Article

Integrated microarray and RNAseq transcriptomic analysis of retinal pigment epithelium in age-related macular degeneration. Front. Cell Dev. Biol - Article

Atypical retinal phenotype in a patient with Alström syndrome and biallelic novel pathogenic variants in ALMS1, including a de novo variation. Front. Genet - Article

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. Clin Epigenetics - Article

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. Sci Rep - Article

Pseudophakic cystoid macular edema and spectral-domain optical coherence tomography-detectable central macular thickness changes with perioperative prostaglandin analogs. Journal of cataract and refractive surgery - Article

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. Proc Natl Acad Sci U S A - Article

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. Orphanet J Rare Dis - Article

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome. Hum Mol Genet - Article

Personalized Ophthalmology. Clin Genet - Article

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. Hum Mol Genet - Article

ZNF469 frequently mutated in the Brittle Cornea Syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Mol Genet Metab - Article

Brittle cornea syndrome, molecular diagnosis and management. Orphanet J Rare Dis - Article

Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PLoS One - Article

Unintended consequences and MRSA screening policy. Journal of Hospital Infection - Article

MRSA and cataract surgery. Reflections for ophthalmic practice. Clinical Ophthalmology. 2010 - Article

Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2. Investigative Ophthalomol Vis Sci - Article

Total Parenteral Nutrition, Vitamin E and Reversible Macular Dysfunction Morphologically Mimicking Age-Related Macular Degeneration. British Journal Ophthalmol - Article

Meilleur article scientifique - European Society of Ophthalmology (SOE)