Lista de obras - Dorothy Thompson - Dominio Público Uruguay

A clinical classification system for paravenous pigmentary chorioretinal atrophy (PPCRA) in childhood

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

artículo científico publicado en 2013

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

artículo científico publicado en 2011

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy

artículo científico publicado en 2007

An optical stimulator for studying the topography of electrical and magnetic visual evoked responses

artículo científico publicado en 1992

Case report: Unilateral optic nerve aplasia and developmental hemi-chiasmal dysplasia with VEP misrouting

scientific article published on 27 August 2020

Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).

artículo científico publicado en 2003

Childhood-Onset Autosomal Recessive Bestrophinopathy

scientific article published on 01 August 2011

Computation of the luminance and pattern components of the bar pattern electroretinogram

artículo científico publicado en 1987

Congenital high myopia and central macular atrophy: a report of 3 families.

artículo científico publicado en 2015

Distortion of spatial selectivity by pattern onset stimulation

artículo científico publicado en 1989

ERGs on the brain: the benefits of simultaneous flash retinal and cortical responses in paediatric cerebral visual impairment

artículo científico publicado en 2018

Early VEP and ERG Evidence of Visual Dysfunction in Autosomal Recessive Osteopetrosis

artículo científico publicado en 1998

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

artículo científico publicado en 2009

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.

artículo científico publicado en 2014

Foveal cavitation as an optical coherence tomography finding in central cone dysfunction

artículo científico publicado en 2012

Full-field electroretinogram in autism spectrum disorder

artículo científico publicado en 2016

Hereditary primary lateral sclerosis with cone dysfunction

artículo científico publicado en 2010

Joubert syndrome: long-term follow-up

artículo científico publicado en 2004

Juvenile xanthogranuloma with presumed involvement of the optic disc and retina

artículo científico publicado en 2004

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

artículo científico publicado en 2012

Macular Dystrophy in Kabuki Syndrome: A New Clinical Feature? ⬇️

artículo científico publicado el 19 de julio de 2011

Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome

artículo científico publicado en 2020

Models of the Visual Cortex Based on Visual Evoked Potentials

Modulation of amblyopia therapy following early surgery for unilateral congenital cataracts.

artículo científico publicado en 1995

Monitoring visual function in children with syndromic craniosynostosis: a comparison of 3 methods

article

Motion and pattern cortical potentials in adults with high-functioning autism spectrum disorder.

artículo científico publicado en 2012

Multi-centre variability of ISCEV standard ERGs in two normal adults.

artículo científico publicado en 2015

Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system

artículo científico publicado en 2015

Ophthalmological aspects of Pierson syndrome

artículo científico publicado en 2008

Pattern-onset and OFFset visual evoked potentials in the diagnosis of hemianopic field defects

artículo científico publicado en 2020

Pediatric Visual Electrophysiology

Pediatric clinical visual electrophysiology: a survey of actual practice

scientific article published on 16 November 2006

Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

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

artículo científico publicado en 2010

Prevalence of abnormal pattern reversal visual evoked potentials in craniosynostosis

article

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

artículo científico publicado en 2013

Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency

artículo científico publicado en 2012

Saccadic instabilities in albinism without nystagmus

artículo científico publicado en 2006

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

artículo científico publicado en 2011

Sustained raised intracranial pressure implicated only by pattern reversal visual evoked potentials after cranial vault expansion surgery

artículo científico publicado en 2003

THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE.

artículo científico publicado en 2015

The 50th ISCEV international symposium abstract issue

The achiasmia spectrum: congenitally reduced chiasmal decussation

artículo científico publicado en 2005

The effect of 0.5% thymoxamine on the pattern-onset electroretinogram

The effect of stimulus contrast on the latency and amplitude of the pattern electroretinogram.

artículo científico publicado en 1989

The effects of image degradation on retinal illuminance and pattern responses to checkerboard stimuli

article

The optokinetic response differences between congenital profound and nonprofound unilateral visual deprivation.

artículo científico publicado en 1995

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype

artículo científico

The reproducibility of binocular pattern reversal visual evoked potentials: a single subject design

artículo científico publicado en 2011

Visual field loss in children with craniosynostosis.

artículo científico publicado en 2011

Visual outcomes following intraophthalmic artery melphalan for patients with refractory retinoblastoma and age appropriate vision

artículo científico publicado en 2013

Visual-evoked potential evidence of chiasmal hypoplasia

artículo científico publicado en 1999

When do asymmetrical full-field pattern reversal visual evoked potentials indicate visual pathway dysfunction in children?

artículo científico publicado en 2010

Lista de obras de Dorothy Thompson

A clinical classification system for paravenous pigmentary chorioretinal atrophy (PPCRA) in childhood

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy

An optical stimulator for studying the topography of electrical and magnetic visual evoked responses

Case report: Unilateral optic nerve aplasia and developmental hemi-chiasmal dysplasia with VEP misrouting

Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).

Childhood-Onset Autosomal Recessive Bestrophinopathy

Computation of the luminance and pattern components of the bar pattern electroretinogram

Congenital high myopia and central macular atrophy: a report of 3 families.

Distortion of spatial selectivity by pattern onset stimulation

ERGs on the brain: the benefits of simultaneous flash retinal and cortical responses in paediatric cerebral visual impairment

Early VEP and ERG Evidence of Visual Dysfunction in Autosomal Recessive Osteopetrosis

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.

Foveal cavitation as an optical coherence tomography finding in central cone dysfunction

Full-field electroretinogram in autism spectrum disorder

Hereditary primary lateral sclerosis with cone dysfunction

Joubert syndrome: long-term follow-up

Juvenile xanthogranuloma with presumed involvement of the optic disc and retina

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

Macular Dystrophy in Kabuki Syndrome: A New Clinical Feature? ⬇️

Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome

Models of the Visual Cortex Based on Visual Evoked Potentials

Modulation of amblyopia therapy following early surgery for unilateral congenital cataracts.

Monitoring visual function in children with syndromic craniosynostosis: a comparison of 3 methods

Motion and pattern cortical potentials in adults with high-functioning autism spectrum disorder.

Multi-centre variability of ISCEV standard ERGs in two normal adults.

Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system

Ophthalmological aspects of Pierson syndrome

Pattern-onset and OFFset visual evoked potentials in the diagnosis of hemianopic field defects

Pediatric Visual Electrophysiology

Pediatric Visual Electrophysiology

Pediatric clinical visual electrophysiology: a survey of actual practice

Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

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

Prevalence of abnormal pattern reversal visual evoked potentials in craniosynostosis

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency

Saccadic instabilities in albinism without nystagmus

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Sustained raised intracranial pressure implicated only by pattern reversal visual evoked potentials after cranial vault expansion surgery

THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE.

The 50th ISCEV international symposium abstract issue

The achiasmia spectrum: congenitally reduced chiasmal decussation

The effect of 0.5% thymoxamine on the pattern-onset electroretinogram

The effect of stimulus contrast on the latency and amplitude of the pattern electroretinogram.

The effects of image degradation on retinal illuminance and pattern responses to checkerboard stimuli

The optokinetic response differences between congenital profound and nonprofound unilateral visual deprivation.

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype

The reproducibility of binocular pattern reversal visual evoked potentials: a single subject design

Visual field loss in children with craniosynostosis.

Visual outcomes following intraophthalmic artery melphalan for patients with refractory retinoblastoma and age appropriate vision

Visual-evoked potential evidence of chiasmal hypoplasia

When do asymmetrical full-field pattern reversal visual evoked potentials indicate visual pathway dysfunction in children?