Lista de obras - Jay E Self - Dominio Público Uruguay

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2019

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

artículo científico publicado en 2022

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

artículo científico publicado en 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

artículo científico publicado en 2020

Bilateral retinoblastoma presenting at retinopathy of prematurity screening

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

Delineating the expanding phenotype associated with SCAPER gene mutation

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 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).

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Is This Actually CIN?

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2000

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

artículo científico publicado en 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.

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2019

Lista de obras de Jay E Self

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

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

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

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

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

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

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

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

Bilateral retinoblastoma presenting at retinopathy of prematurity screening

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

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

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

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

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

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

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

Delineating the expanding phenotype associated with SCAPER gene mutation

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

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

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

Frmd7 expression in developing mouse brain

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

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

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

Is This Actually CIN?

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

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

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

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

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

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

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

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

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

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.

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

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

The molecular genetics of congenital idiopathic nystagmus.

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

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