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Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene

International journal of molecular sciences, 2020-12, Vol.21 (24), p.9353

2020

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

Retina (Philadelphia, Pa.), 2012-07, Vol.32 (7), p.1411-1419

2012

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Fundus Autofluorescence and mfERG for Early Detection of Retinal Alterations in Patients Using Chloroquine/Hydroxychloroquine

Investigative ophthalmology & visual science, 2006-08, Vol.47 (8), p.3531-3538

2006

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Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation

Documenta ophthalmologica, 2012-08, Vol.125 (1), p.81-89

2012

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Choroideremia: Variability of Clinical and Electrophysiological Characteristics and First Report of a Negative Electroretinogram

Ophthalmology (Rochester, Minn.), 2006-11, Vol.113 (11), p.2066-2073.e2

2006

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fMRI with Central Vision Loss: Effects of Fixation Locus and Stimulus Type

Optometry and vision science, 2017-03, Vol.94 (3), p.297-310

2017

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A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene

Investigative ophthalmology & visual science, 2012-04, Vol.53 (4), p.2112-2118

2012

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Gray matter alterations in visual cortex of patients with loss of central vision due to hereditary retinal dystrophies

NeuroImage (Orlando, Fla.), 2011-06, Vol.56 (3), p.1556-1565

2011

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Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

American journal of human genetics, 2010-09, Vol.87 (3), p.376-381

2010

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Recurrent episodes of night blindness in a patient with short bowel syndrome

Documenta ophthalmologica, 2015-12, Vol.131 (3), p.221-230

2015

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Neural correlates of visual search in patients with hereditary retinal dystrophies

Human brain mapping, 2013-10, Vol.34 (10), p.2607-2623

2013

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Phenotypic Variability and Long-term Follow-up of Patients With Known and Novel PRPH2/RDS Gene Mutations

American journal of ophthalmology, 2009-03, Vol.147 (3), p.518-530.e1

2009

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Ten-year follow-up of two unrelated patients with Müller cell sheen dystrophy and first report of successful vitrectomy

Documenta ophthalmologica, 2014-12, Vol.129 (3), p.191-202

2014

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Mutation Analysis Identifies GUCY2D as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration

Investigative ophthalmology & visual science, 2008-11, Vol.49 (11), p.5015-5023

2008

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Late Onset is Common in Best Macular Dystrophy Associated with VMD2 Gene Mutations

Ophthalmology (Rochester, Minn.), 2005-04, Vol.112 (4), p.586-592.e2

2005

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Photopigment optical density of the human foveola and a paradoxical senescent increase outside the fovea

Visual neuroscience, 2004-11, Vol.21 (6), p.827-834

2004

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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

European journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.812-819

2008

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Dysfunction of transmission in the inner retina: incidence and clinical causes of negative electroretinogram

Graefe's archive for clinical and experimental ophthalmology, 2006-11, Vol.244 (11), p.1467-1473

2006

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ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

Documenta ophthalmologica, 2008-03, Vol.116 (2), p.97-109

2008

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Morphology and functional characteristics in adult vitelliform macular dystrophy

Retina (Philadelphia, Pa.), 2004-12, Vol.24 (6), p.929-939

2004

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Liver-specific increase of UTP and UDP-sugar concentrations in rats induced by dietary vitamin B6-deficiency and its relation to complex N-glycan structures of liver membrane-proteins

Glycoconjugate journal, 2007-12, Vol.24 (9), p.531-541

2007

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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Human mutation, 2022-07, Vol.43 (7), p.832-858

2022

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Recording of both VEP and multifocal ERG for evaluation of unexplained visual loss : Electrophysiology in unexplained visual loss

Documenta ophthalmologica, 2005-11, Vol.111 (3), p.149-157

2005

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Neural correlates of visual search in patients with hereditary retinal dystrophies: Neural Correlates of Visual Search

Human brain mapping, 2013-10, Vol.34 (10), p.2607-2623

2013

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Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene

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

Fundus Autofluorescence and mfERG for Early Detection of Retinal Alterations in Patients Using Chloroquine/Hydroxychloroquine

Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation

Choroideremia: Variability of Clinical and Electrophysiological Characteristics and First Report of a Negative Electroretinogram

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

fMRI with Central Vision Loss: Effects of Fixation Locus and Stimulus Type

A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene

Gray matter alterations in visual cortex of patients with loss of central vision due to hereditary retinal dystrophies

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

Recurrent episodes of night blindness in a patient with short bowel syndrome

Neural correlates of visual search in patients with hereditary retinal dystrophies

Phenotypic Variability and Long-term Follow-up of Patients With Known and Novel PRPH2/RDS Gene Mutations

Ten-year follow-up of two unrelated patients with Müller cell sheen dystrophy and first report of successful vitrectomy

Mutation Analysis Identifies GUCY2D as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration

Late Onset is Common in Best Macular Dystrophy Associated with VMD2 Gene Mutations

Photopigment optical density of the human foveola and a paradoxical senescent increase outside the fovea

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

Dysfunction of transmission in the inner retina: incidence and clinical causes of negative electroretinogram

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

Morphology and functional characteristics in adult vitelliform macular dystrophy

Liver-specific increase of UTP and UDP-sugar concentrations in rats induced by dietary vitamin B6-deficiency and its relation to complex N-glycan structures of liver membrane-proteins

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Recording of both VEP and multifocal ERG for evaluation of unexplained visual loss : Electrophysiology in unexplained visual loss

Neural correlates of visual search in patients with hereditary retinal dystrophies: Neural Correlates of Visual Search

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