Search filters

List of works by Jay E. Self

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

scientific article published on 03 January 2017

A novel method for examining corneal endothelial cell morphology in infants.

scientific article published on 24 March 2017

A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN).

scientific article

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

scientific article published on 13 September 2019

Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

scientific article published in 2022

Association of HLA class I and class II polymorphisms with age-related macular degeneration.

scientific article published in May 2005

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan

scientific article published on 07 June 2019

Beyond Visual Acuity: Development of a Simple Test of the Slow-To-See Phenomenon in Children with Infantile Nystagmus Syndrome

scientific article published on 02 July 2020

Bilateral retinoblastoma presenting at retinopathy of prematurity screening

scientific article published on July 2010

Cataract management in children: a review of the literature and current practice across five large UK centres

scientific article published on 10 August 2020

Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN)

scientific article published on 30 September 2020

Comparison of standard eyelid margin closure using silk with a modified repair using 7/0 vicryl and a buried knot

scientific article published in June 2005

Comparison of the handheld RETeval ERG system with a routine ERG system in healthy adults and in paediatric patients

scientific article published on 19 October 2020

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

article

Correction: Comparison of the handheld RETeval ERG system with a routine ERG system in healthy adults and in paediatric patients

scientific article published on 30 October 2020

Correction: Management of nystagmus in children: a review of the literature and current practice in UK specialist services

scientific article published on 28 May 2020

Delineating the expanding phenotype associated with SCAPER gene mutation

scientific article published on 13 June 2019

Disorders of vision in neonatal hypoxic-ischaemic encephalopathy: a systematic review

scientific article published on 27 November 2020

Evaluating the impact of information and support for people with nystagmus in the digital age: A patient and carer questionnaire study

scientific article published on 26 December 2019

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

article

Frmd7 expression in developing mouse brain

scientific article published on 6 March 2009

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe () gene variant in two pedigrees with varying phenotypes including isolated congenital cataract

article

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

scientific article published on 30 June 2017

Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.

scientific article

Is This Actually CIN?

scientific article published on 11 June 2015

Is an iris claw IOL a good option for correcting surgically induced aphakia in children? A review of the literature and illustrative case study.

scientific article

Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.

scientific article published on August 2005

Management of nystagmus in children: a review of the literature and current practice in UK specialist services

scientific article published on 09 January 2020

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

scientific article published on 29 August 2018

Novel Presenting Phenotype in a Child With Autosomal Dominant Best's Vitelliform Macular Dystrophy.

scientific article published in July 2017

Oral levodopa rescues retinal morphology and visual function in a murine model of human albinism

scientific article published on 02 April 2019

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

scientific article published on 2 November 2017

Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients.

scientific article published on May 2009

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

scientific article published on 08 November 2019

Reducing conditions produce a loss of neuroprotective efficacy of competitive but not non-competitive antagonists in a model of NMDA-mediated excitotoxicity in organotypic hippocampal slice cultures.

scientific article published in January 2000

Reducing conditions significantly attenuate the neuroprotective efficacy of competitive, but not other NMDA receptor antagonists in vitro

scientific article published on November 2000

Reply

Supranuclear eye movements and nystagmus in children: A review of the literature and guide to clinical examination, interpretation of findings and age-appropriate norms

article

The molecular genetics of congenital idiopathic nystagmus.

scientific article

The potential and value of objective eye tracking in the ophthalmology clinic

scientific article published on 08 April 2019

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families

scientific article published on 17 April 2019

Paulina is supported by:

About Paulina

Help