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A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

scientific article published on 15 March 2013

A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM

artículo científico publicado en 2018

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

artículo científico publicado en 2010

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene

artículo científico publicado en 2014

A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation.

artículo científico publicado en 2008

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)

artículo científico publicado en 2012

A phenotype-genotype correlation study of X-linked retinoschisis.

artículo científico publicado en 2013

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

artículo científico publicado en 2011

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

artículo científico publicado en 2008

An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis

artículo científico publicado en 2008

Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene.

artículo científico publicado en 2012

Assessment of patients with suspected non-organic visual loss using pattern appearance visual evoked potentials

artículo científico publicado en 2006

Author reply

scientific article published on 01 April 2015

Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy

scientific article published on 01 February 2007

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

artículo científico publicado en 2008

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina

artículo científico publicado en 2011

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy

scientific journal article

Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings

artículo científico publicado en 2012

Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.

artículo científico publicado en 2006

Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance.

artículo científico publicado en 2008

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

artículo científico publicado en 2016

Childhood-Onset Autosomal Recessive Bestrophinopathy

scientific article published on 01 August 2011

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

scientific article published on 08 May 2019

Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.

artículo científico publicado en 2013

Clinical and molecular characteristics of childhood-onset Stargardt disease.

artículo científico publicado en 2014

Clinical and molecular characterization of enhanced S-cone syndrome in children.

artículo científico publicado en 2014

Clinical characteristics of early retinal disease due to CDHR1 mutation

artículo científico publicado en 2013

Clinical heterogeneity in a family with mutations in USH2A

artículo científico publicado en 2015

Comparing rod and cone function with fundus autofluorescence images in retinitis pigmentosa.

artículo científico publicado en 2003

Comparison of fundus autofluorescence and minimum-motion measurements of macular pigment distribution profiles derived from identical retinal areas.

artículo científico publicado en 2005

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

artículo científico publicado en 2015

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms

artículo científico publicado en 2014

Correction to: ISCEV Standard for clinical electro-oculography (2017 update).

artículo científico publicado en 2018

Delineating the expanding phenotype associated with SCAPER gene mutation

artículo científico publicado en 2019

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

artículo científico publicado en 2017

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

artículo científico publicado en 2014

ELECTROPHYSIOLOGICAL CHARACTERIZATION OF MACULAR TELANGIECTASIA TYPE 2 AND STRUCTURE-FUNCTION CORRELATION.

artículo científico publicado en 2017

Early Onset Retinal Dystrophy Due to Mutations inLRAT: Molecular Analysis and Detailed Phenotypic Study

article

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

artículo científico publicado en 2018

Effects of cystic fibrosis lung disease on gas mixing indices derived from alveolar slope analysis

artículo científico publicado en 2008

Electrodiagnostic and two-wavelength fundus autofluorescence imaging investigations in acute idiopathic maculopathy.

artículo científico publicado en 2010

Electrodiagnostic assessment in optic nerve disease.

artículo científico publicado en 2009

Electrooculogram (EOG) findings in a case of acute exudative polymorphous vitelliform maculopathy (AEPVM) detected following trauma

scientific article published on 20 September 2013

Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy.

artículo científico publicado en 2005

Electrophysiological monitoring in a patient with an optic nerve glioma.

artículo científico publicado en 2008

Electroretinogram measures in a septuagenarian population.

artículo científico publicado en 2011

Erratum to: ISCEV Standard for clinical electro-oculography (2017 update).

artículo científico publicado en 2017

Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity

artículo científico publicado en 2006

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.

artículo científico publicado en 2007

Fundus autofluorescence in patients with leber congenital amaurosis.

artículo científico publicado en 2004

High-resolution optical coherence tomography imaging in KCNV2 retinopathy.

artículo científico publicado en 2011

ISCEV Standard for clinical electro-oculography (2017 update).

artículo científico publicado en 2017

ISCEV extended protocol for the dark-adapted red flash ERG

artículo científico publicado en 2018

ISCEV extended protocol for the photopic On-Off ERG

artículo científico publicado en 2018

ISCEV extended protocol for the stimulus-response series for light-adapted full-field ERG

scientific article published on 30 March 2019

ISCEV extended protocol for the stimulus-response series for the dark-adapted full-field ERG b-wave

scientific article published on 30 March 2019

ISCEV guide to visual electrodiagnostic procedures.

artículo científico publicado en 2018

Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures.

artículo científico publicado en 2017

Investigating the potential of Zernike polynomials to characterise spatial distribution of macular pigment

artículo científico publicado en 2019

Isolated rod dysfunction associated with a novel genotype of

artículo científico publicado en 2019

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

artículo científico publicado en 2015

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Macular pigment and the colour-specificity of visual evoked potentials.

artículo científico publicado en 1998

Macular pigment density and distribution: comparison of fundus autofluorescence with minimum motion photometry.

artículo científico publicado en 2003

Measurement of macular pigment optical density and distribution using the steady-state visual evoked potential.

artículo científico publicado en 2008

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

artículo científico publicado en 2017

Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.

artículo científico publicado en 2011

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

artículo científico publicado en 2016

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

artículo científico publicado en 2006

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

artículo científico publicado en 2010

Novel phenotypic and genotypic findings in X-linked retinoschisis.

artículo científico publicado en 2007

Objective specification of tritanopic confusion lines using visual evoked potentials

artículo científico publicado en 1998

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.

artículo científico publicado en 2015

Optimization of large field tritan stimuli using concentric isoluminant annuli.

artículo científico publicado en 2012

Outcomes Associated With Sustained-Release Intraocular Fluocinolone Implants in a Case of Melanoma-Associated Retinopathy Treated Without Systemic Immunosuppression

artículo científico publicado en 2019

PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY-DETAILED CLINICAL STUDY OF A LARGE COHORT.

artículo científico publicado en 2018

Pathognomonic (diagnostic) ERGs. A review and update.

artículo científico

Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity.

artículo científico publicado en 2003

Phase 1 clinical study of an embryonic stem cell-derived retinal pigment epithelium patch in age-related macular degeneration.

artículo científico publicado en 2018

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.

artículo científico publicado en 2016

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy.

artículo científico publicado en 2015

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations

artículo científico publicado en 2016

Prph2 mutations as a cause of electronegative ERG

artículo científico publicado en 2014

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

scientific article published on 01 September 2007

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

artículo científico publicado en 2009

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

artículo científico publicado en 2016

Research news article on frequent cannabis and nerve transmission was unbalanced

artículo científico publicado en 2017

Retinal Ganglion Cell Dysfunction in Regular Cannabis Users: Is the Evidence Strong Enough to Consider an Association?

artículo científico publicado en 2017

Retinal dysfunction and refractive errors: an electrophysiological study of children.

artículo científico publicado en 2005

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)

artículo científico publicado en 2018

Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

scientific article published on 01 April 2019

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

scientific article published on 31 July 2019

Safety profile and efficacy of tacrolimus in the treatment of birdshot retinochoroiditis: a retrospective case series review.

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Selective stimulation of colour mechanisms: an empirical perspective

scientific article published on 01 January 1997

Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa

artículo científico publicado en 2011

Specificity and selectivity of chromatic visual evoked potentials

artículo científico publicado en 1996

Structural and functional retinal changes in eyes with DUSN.

artículo científico publicado en 2014

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.

artículo científico publicado en 2016

The Macular Assessment Profile test - a new VDU-based technique for measuring the spatial distribution of the macular pigment, lens density and rapid flicker sensitivity.

artículo científico publicado en 2010

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

artículo científico publicado en 2010

The clinical effect of homozygous ABCA4 alleles in 18 patients.

artículo científico publicado en 2013

The value of two-field pattern electroretinogram in routine clinical electrophysiologic practice.

artículo científico publicado en 2012

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants

artículo científico publicado en 2014

Topical corticosteroids potentiate mucin secretion in the normal nose

scientific article published on 01 February 1996

Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration

artículo científico publicado en 2018

Unilateral BEST1-Associated Retinopathy

artículo científico publicado en 2016

Unilateral electronegative ERG of non-vascular aetiology.

artículo científico publicado en 2005

Unilateral pigmentary retinopathy: a retrospective case series

scientific article published on 31 December 2018

Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.

artículo científico publicado en 2011

Using laboratory measurements to predict in-flight desaturation in respiratory patients: are current guidelines appropriate?

artículo científico publicado en 2008

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

artículo científico publicado en 2022

X-linked cone dystrophy caused by mutation of the red and green cone opsins

artículo científico publicado en 2010