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List of works by Edwin M. Stone

A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

article

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

scientific article published on 15 March 2013

A Method for Sectioning and Immunohistochemical Analysis of Stem Cell-Derived 3-D Organoids

scientific article published on 12 May 2016

A Very Effective Treatment for Neovascular Macular Degeneration

A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation

scientific article

A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy

article

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

scientific article published on 01 April 1996

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

scientific article

A gene for familial juvenile polyposis maps to chromosome 18q21.1.

scientific article

A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci

scientific article

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

scientific journal article

A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations

scientific article

A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization

scientific article

A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)

scientific article

A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa

scientific article

A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree

scientific article published on 19 January 2018

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

scientific article

ABCA4 disease progression and a proposed strategy for gene therapy

scientific article published on 12 December 2008

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy

scientific article published on June 2003

ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy

scientific article

ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina

scientific article published in December 2005

ASSESSMENT OF AAV SEROTYPE TROPISM IN HUMAN RETINAL EXPLANTS.

scientific article published on 21 November 2017

AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY IN A LARGE COHORT OF VITELLIFORM MACULAR DYSTROPHY PATIENTS

article

Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis.

scientific article published on July 2016

Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina.

scientific article published on November 2003

Aflibercept therapy for exudative age-related macular degeneration resistant to bevacizumab and ranibizumab.

scientific article published on 22 May 2013

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

scientific article

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

scientific article published on 01 December 1998

Allogenic iPSC-derived RPE cell transplants induce immune response in pigs: a pilot study

scientific article published on 3 July 2015

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Analysis of ASB10 variants in open angle glaucoma

scientific article

Anti-γ-enolase autoimmune retinopathy manifesting in early childhood

scientific article

Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness

scientific article published on 28 May 2015

Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease

scientific article

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

scientific article

Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family

scientific article published in August 2004

Atypical Mild Enhanced S-Cone Syndrome with Novel Compound Heterozygosity of the NR2E3 Gene

article

Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations

scientific article

Automated discovery and quantification of image-based complex phenotypes: a twin study of drusen phenotypes in age-related macular degeneration

scientific article published on 25 November 2011

Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation inKIF11

Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

article published in 1990

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

scientific article published on February 2016

Autosomal Recessive Best Vitelliform Macular Dystrophy

scientific article published on 01 February 2011

Autosomal dominant iris hypoplasia is caused by a mutation in the rieger syndrome (rieg/pitx2) gene ⬇️

scientific article published on January 1, 1998

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

scientific article published on 28 December 2011

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

scientific article

Avellino Corneal Dystrophy

article

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

scientific article

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

scientific article

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

scientific article published on 09 April 2013

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

scientific article

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

scientific article

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

Scientific journal article

Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis

scientific article published on June 2015

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

scientific article

Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease

scientific article published in May 2007

Bestrophinopathy: An RPE-photoreceptor interface disease

scientific article published on 19 January 2017

Bilateral intravitreal injection of antivascular endothelial growth factor therapy.

scientific article published on January 2011

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

scientific article

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.

scientific article published on 8 May 2014

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

scientific article

CLINICAL PHENOTYPE AS A PROGNOSTIC FACTOR IN STARGARDT DISEASE

scientific article published on 01 April 2004

CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis

scientific article (publication date: July 2009)

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration

scientific article

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

scientific article

Characterization and Comparison of the Human and MouseGLC1A Glaucoma Genes ⬇️

scientific article published on April 1, 1998

Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage

scientific article

Chromatic pupil responses: preferential activation of the melanopsin-mediated versus outer photoreceptor-mediated pupil light reflex.

scientific article

Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light

scientific article published on April 2008

Clinical Characterization and Linkage Analysis of a Family With Congenital X-Linked Nystagmus and Deuteranomaly

article

Clinical Features of a Previously Undescribed Codon 216 (proline to serine) Mutation in the Peripherin/Retinal Degeneration Slow Gene in Autosomal Dominant Retinitis Pigmentosa

article

Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus

scientific article published on 20 February 2014

Clinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)

scientific article published on 01 December 1997

Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma

scientific article published on April 1993

Clinical phenotypes in carriers of Leber congenital amaurosis mutations

scientific article published in February 2005

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

scientific article published on 27 May 2017

Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD) : Drusen subdomains in fibulin-5 AMD.

scientific article published on 23 December 2015

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis

scientific article published in March 2003

Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde-3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle.

scientific article published in March 1983

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

scientific article

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

scientific article

Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration

scientific article

Comparison of retinal and choriocapillaris thicknesses following sitting to supine transition in healthy individuals and patients with age-related macular degeneration

scientific article published in March 2015

Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23.

scientific article published on August 2003

Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.

scientific article

Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells

scientific article

Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

scientific article published in January 2007

Complete sequence of the chicken glyceraldehyde-3-phosphate dehydrogenase gene.

scientific article

Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease

scientific article

Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease

scientific article

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

scientific article

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.

scientific article

Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States

scientific article published on 24 September 2012

Connective Tissue Growth Factor Promotes Efficient Generation of Human Induced Pluripotent Stem Cell-Derived Choroidal Endothelium

scientific article published on 5 May 2017

Connexin mutations and hearing loss ⬇️

scientific article published on January 1, 1998

Copy number variations and primary open-angle glaucoma

scientific article published on 9 September 2011

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

scientific article

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

scientific article (publication date: May 2003)

Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation

scientific article

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

scientific article

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

scientific article

Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population

scientific article

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

scientific article published on 30 December 2008

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

scientific article published on 3 October 2012

Diagnostic and Therapeutic Challenges

scientific article published on 01 December 2004

Different inner retinal pathways mediate rod-cone input in irradiance detection for the pupillary light reflex and regulation of behavioral state in mice

scientific article

Differential Macular and Peripheral Expression of Bestrophin in Human Eyes and Its Implication for Best Disease

article

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis

scientific article

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

scientific article

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

scientific article

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man ⬇️

scientific article published on June 9, 1998

Distinguishing optic pathway glioma and retinitis pigmentosa with visual field testing

scientific article published on 16 April 2016

Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd).

scientific article published in June 2008

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

scientific article published on 12 July 2017

Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex

scientific article published in May 2010

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

scientific article published on 13 July 2017

Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus

scientific article

Elevated membrane attack complex in human choroid with high risk complement factor H genotypes

scientific article

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)

scientific article published on 19 March 2007

Erosive Vitreoretinopathy

scientific article published on 01 April 1994

Erratum: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population

scholarly article published in American Journal of Medical Genetics

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His

article

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

scientific article

Evaluation of genotype-phenotype associations in leber congenital amaurosis

scientific article

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma

scientific article (publication date: November 2003)

Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism

scientific article

Evaluation of variants in the selectin genes in age-related macular degeneration

scientific article

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

article

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

scientific article

Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci

article

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

scientific article

Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D.

scientific article published on 17 March 2018

Expanding the repertoire of RP genes ⬇️

scientific article published on August 1, 1998

Expression of the retina-specific flippase, ABCA4, in epidermal keratinocytes

Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.

scientific article

Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping.

scientific article published on 23 March 2007

Familial cavitary optic disk anomalies: identification of a novel genetic locus.

scientific article published on 19 March 2007

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint ⬇️

scientific article published on September 1, 1997

Familial non-arteritic anterior ischemic optic neuropathy

scientific article published on 28 June 2008

Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration

scientific article published on 14 November 2006

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

scientific article published on May 2015

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

scientific article

From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology

scientific article

Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients

scientific article

Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage

scientific journal article

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

scientific article

Gene therapy using stem cells

scientific article

Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors.

scientific article

Generating iPSC-Derived Choroidal Endothelial Cells to Study Age-Related Macular Degeneration

scientific article published on December 2015

Generation of Xeno-Free, cGMP-Compliant Patient-Specific iPSCs from Skin Biopsy

scientific article published on 14 August 2017

Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse

scientific article

Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil

scientific article (publication date: February 2002)

Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets

scientific article published on 15 August 2008

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13

scientific article published on 01 December 1992

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

scientific article published on 01 May 1993

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13

scientific article (publication date: July 1992)

Genetic testing for age-related macular degeneration: not indicated now.

scientific article published on May 2015

Genetic testing for inherited eye disease

scientific article published on February 2007

Genome-wide analysis of copy number variants in age-related macular degeneration

scientific article published on 28 October 2010

Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

scientific article

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients ⬇️

scientific article

Genomics and the eye.

scientific article published on May 2011

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.

scientific article

Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure

scientific article

Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.

scientific article

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly

scientific article published on March 2015

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

scientific article

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model

scientific article

Human cone photoreceptor dependence on RPE65 isomerase

scientific article

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

scholarly article

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining

scientific article published on 5 January 2011

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

scientific article

IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping

scientific article published on May 2007

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans

scientific article

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform

scientific article

Identification of Rhodopsin Gene Mutations Using GC-Clamped Denaturing Gradient Gel Electrophoresis

article

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

scientific article (publication date: August 1994)

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

scientific article

Identification of a gene that causes primary open angle glaucoma.

scientific article

Identification of proteins that interact with TANK binding kinase 1 and testing for mutations associated with glaucoma.

scientific article published on 03 January 2013

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

scientific article

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

scientific article published in June 2001

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

scientific article

In vivo micropathology of Best macular dystrophy with optical coherence tomography.

scientific article

Incontinentia pigmenti: Transmission from father to daughter

article

Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure

scientific article

Inhibition of neovascularization but not fibrosis with the fluocinolone acetonide implant in autosomal dominant neovascular inflammatory vitreoretinopathy

scientific article

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations

scientific article published on 20 March 2014

Intravitreal Bevacizumab for Peripapillary Choroidal Neovascular Membranes

scientific article published on 01 August 2012

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

scientific article

Is age-related macular degeneration a microvascular disease?

scientific article published on January 2014

LOXL1 Mutations Are Associated with Exfoliation Syndrome in Patients from the Midwestern United States

article

Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation

scientific article published on November 2005

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

scientific article

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

scientific article published on 16 February 2007

Light aversion in mice depends on nonimage-forming irradiance detection

scientific article published in December 2010

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25) ⬇️

scientific article published on August 1, 1995

Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21

scientific article

Linkage of posterior polymorphous corneal dystrophy to 20q11

article

Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration

scientific article published on 14 July 2009

Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis

scientific article

Macular Degeneration

Macular Dystrophies

article

Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials

scientific article

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations

scientific article published on March 2007

Macular pigment and lutein supplementation in choroideremia

scientific article

Mechanical properties of murine and porcine ocular tissues in compression

scientific article published on 05 March 2014

Missense variations in the fibulin 5 gene and age-related macular degeneration

scientific article

Mitochondrial Variant G4132A is Associated with Familial Non-Arteritic Anterior Ischemic Optic Neuropathy in One Large Pedigree

scientific article published on 01 March 2007

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

scientific journal article

Molecular Characterization and Ophthalmic Investigation of a Large Family With Type 2A von Hippel–Lindau Disease ⬇️

scientific article published on November 1, 2001

Molecular Genetics of Retinal Disease

article

Molecular response of chorioretinal endothelial cells to complement injury: implications for macular degeneration

scientific article published on 13 November 2015

Monomeric C-reactive protein and inflammation in age-related macular degeneration

scientific article published on 4 July 2016

Multiple Evanescent White Dot Syndrome in a Patient With Best Disease

scientific article published on 01 October 1997

Mutation analysis of the ROM1 gene in retinitis pigmentosa

article

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

scientific article

Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family

scientific article

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

scientific article

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

scientific article published on 6 January 2004

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

scientific article published in December 1997

Myocilin glaucoma

scientific article

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy

scientific article

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

scientific article published on 04 August 2013

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

scientific article

Novel De Novo Mutation in a Patient With Best Macular Dystrophy

scientific article published on 01 June 2006

Novel approaches to linkage mapping.

scientific article published on June 1995

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)

article

Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.

scientific article published in June 2010

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

scientific article

Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.

scientific article

Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa

scientific article published on May 1, 1992

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

scientific article

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

scientific article

Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.

scientific article

Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.

scientific article published in January 2005

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.

scientific article published in May 2017

Outer Segment Length in Different Best Disease Genotypes

article

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

scientific article published on 27 August 2013

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

scientific article

Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa

scientific article published on 18 March 2017

Patients with an acute zonal occult outer retinopathy-like illness rapidly improve with valacyclovir treatment

scientific article

Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy

scientific article

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

scientific article published on 23 December 2015

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

article

Phenotypic Variation in a Family With Pseudodominant Stargardt Disease

scientific article published on 01 May 2016

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

scientific article published on November 1995

Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.

scientific article

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene

scientific article published on 24 August 2012

Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy

scientific article published on July 2009

Photoreceptor cells with profound structural deficits can support useful vision in mice

scientific article published on 25 March 2014

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

scientific article published on 6 June 2008

Photoreceptor structure and function in patients with congenital achromatopsia.

scientific article

Pitfalls in homozygosity mapping.

scientific article

Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population

scientific article

Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12

scientific article

Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front

scientific article

Predicting the pathogenicity of RPE65 mutations.

scientific article

Preferential Rod and Cone Photoreceptor Abnormalities in Heterozygotes with Point Mutations in theRDSGene

Preparation and evaluation of human choroid extracellular matrix scaffolds for the study of cell replacement strategies.

scientific article published on 5 May 2017

Primary congenital and developmental glaucomas

scientific article

Prioritization of retinal disease genes: an integrative approach

scientific article

Prioritizing regions of candidate genes for efficient mutation screening

scientific article published in February 2006

Procollagen II Gene Mutation in Stickler Syndrome

article

Progress toward effective treatments for human photoreceptor degenerations

scientific article published on 04 May 2009

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations

scientific article published on 24 February 2015

Proteomic analysis of vitreous biopsy techniques

scientific article published on November 2012

QRX, a novel homeobox gene, modulates photoreceptor gene expression

scientific article

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

scientific article

Ranibizumab Therapy for Neovascular Age-Related Macular Degeneration ⬇️

scientific article published on October 21, 2010

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

scientific article published on July 2000

Recommendations for Genetic Testing of Inherited Eye Diseases

scientific article published on 01 September 2012

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

scientific article

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

scientific article published on 17 January 2017

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

scientific article published on June 2006

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

scientific article published on May 2007

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

article

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

scientific article

Regional Distribution of Retinal Degeneration in Patients with the Proline to Histidine Mutation in Codon 23 of the Rhodopsion Gene

article

Regulation of gene expression in the mammalian eye and its relevance to eye disease.

scholarly article

Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin

scientific article published on 02 October 2008

Relative afferent pupillary defects in patients with Leber hereditary optic neuropathy and unilateral visual loss

article

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

article

Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1

scientific article published on 17 October 2011

Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide.

scientific article

Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.

scientific article published on December 2004

Retinal detachment in a patient with leber congenital amaurosis.

scientific article

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

scientific article

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

scientific article

Retinal dysfunction in carriers of bardet-biedl syndrome

scientific article published in September 2007

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

scientific article

Retinal synthesis and deposition of complement components induced by ocular hypertension.

scientific article published on 4 May 2006

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband

scientific article published in February 2010

Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop)

article

SQSTM1 Mutations and Glaucoma.

scientific article

Selective accumulation of the complement membrane attack complex in aging choriocapillaris

scientific article published on 11 September 2015

Sequencing and disease variation detection tools and techniques

Serine-27-Phenylalanine Mutation within the Peripherin/RDS Gene in a Family with Cone Dystrophy

article

Seroreactivity against aqueous-soluble and detergent-soluble retinal proteins in posterior uveitis

scientific article published in April 2011

Stem cells as tools for studying the genetics of inherited retinal degenerations

scientific article published on 11 December 2014

Stem cells for investigation and treatment of inherited retinal disease

scientific article published on 18 March 2014

Stop Mutations in Exon 6 of the Choroideremia Gene, CHM, Associated With Preservation of the Electroretinogram

article

Structural and biochemical analyses of choroidal thickness in human donor eyes.

scientific article published on 06 March 2014

Structural and molecular changes in the aging choroid: implications for age-related macular degeneration

scientific article

Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.

scientific article published on 11 September 2013

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice

scientific article published on 5 January 2012

TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones

scientific article

The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa.

scientific article

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.

scientific article

The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation ofRPE65and Differentiation from Leber Congenital Amaurosis

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

The Relationship Between Granular, Lattice Type 1, and Avellino Corneal Dystrophies

article

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

article

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 ⬇️

scientific article published on June 1, 1998

The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area

scientific article published in February 2000

The membrane attack complex in aging human choriocapillaris: relationship to macular degeneration and choroidal thinning

scientific article

The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene

scientific article

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

scientific article

The optic nerve head in myocilin glaucoma

scientific article published on January 2007

The pathology of posterior amorphous corneal dystrophy

scientific article published in January 1990

The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease

scientific article

Three autosomal dominant corneal dystrophies map to chromosome 5q

scientific article

Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy

scientific article

Tonography Demonstrates Reduced Facility of Outflow of Aqueous Humor in Myocilin Mutation Carriers

scientific article published on 01 June 2003

Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma.

scientific article published on 21 March 2012

Transcript annotation prioritization and screening system (TrAPSS) for mutation screening.

scientific article published in December 2007

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

scientific article

Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide

scientific article published on 4 October 2008

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

scientific article

Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations

scientific article

Two-photon polymerization for production of human iPSC-derived retinal cell grafts.

scientific article published on 25 March 2017

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

scientific article

Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation

scientific article

Use of isolated inbred human populations for identification of disease genes

article

Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration

scientific article published on 12 June 2017

Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration

scientific article published on 11 July 2016

Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial

scientific article

Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration

article

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

scientific article published on January 2011

Vision standards for licensing and driving

scientific article published on 01 September 2007

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

scientific article published on February 2013

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa

scientific article

Visual function testing: a quantifiable visually guided behavior in mice.

scientific article

Visual impairment in the absence of dystroglycan

scientific article

Vitritis in pediatric genetic retinal disorders

scientific article

Which Leber congenital amaurosis patients are eligible for gene therapy trials?

scientific article

Wide-field spectral-domain optical coherence tomography in patients and carriers of X-linked retinoschisis

scientific article

X-linked Retinitis Pigmentosa Associated With a 2-Base Pair Insertion in Codon 99 of the RP3 Gene RPGR

article

cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness

scientific article published on 29 July 2016

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