Lista de obras - Isabelle Audo - Dominio Público Uruguay

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.

artículo científico publicado en 2018

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

artículo científico publicado en 2015

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

artículo científico publicado en 2010

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.

artículo científico publicado en 2016

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

artículo científico publicado en 2011

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.

artículo científico publicado en 2017

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

artículo científico publicado en 2017

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

artículo científico publicado en 2017

AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.

artículo científico publicado en 2018

Adult-onset foveomacular vitelliform dystrophy: A fresh perspective.

artículo científico publicado en 2015

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

artículo científico publicado en 2016

An unusual retinal phenotype associated with a novel mutation in RHO.

artículo científico publicado en 2010

Aripiprazole-induced chorioretinopathy: multimodal imaging and electrophysiological features

artículo científico publicado en 2015

Autofluorescence imaging in a case of benign familial fleck retina.

artículo científico publicado en 2007

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

artículo científico publicado en 2016

CRB1 mutations in inherited retinal dystrophies

artículo científico publicado en 2011

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial

artículo científico publicado en 2016

Clinical characteristics and current therapies for inherited retinal degenerations

artículo científico publicado en 2014

Cone dystrophy in patient with homozygous RP1L1 mutation.

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

Current challenges of ophthalmology in France

artículo científico publicado en 2010

De novo splice mutation in the versican gene in a family with Wagner syndrome

artículo científico publicado en 2013

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

artículo científico publicado en 2019

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

artículo científico publicado en 2012

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein

artículo científico publicado en 2013

EYS is a major gene for rod-cone dystrophies in France.

artículo científico publicado en 2010

Electrophysiological features and multimodal imaging in ritonavir-related maculopathy.

artículo científico publicado en 2017

Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation

artículo científico publicado en 2017

Evaluation of retinal function and flicker light-induced retinal vascular response in normotensive patients with diabetes without retinopathy

artículo científico publicado en 2011

Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

article

Foveal damage in habitual poppers users.

artículo científico publicado en 2011

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes

article

Functional and high resolution retinal imaging assessment in a case of ocular siderosis

artículo científico publicado en 2013

Functional and high-resolution retinal imaging monitoring photoreceptor damage in acute macular neuroretinopathy

artículo científico publicado en 2015

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.

artículo científico publicado en 2017

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness

artículo científico publicado en 2013

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.

artículo científico publicado en 2017

Genotypic and phenotypic characterization of P23H line 1 rat model

artículo científico publicado en 2015

Genotyping microarray for CSNB-associated genes.

artículo científico publicado en 2009

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features

artículo científico publicado en 2014

Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis.

artículo científico publicado en 2013

Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

scientific article published on 23 April 2020

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

artículo científico publicado en 2016

Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults.

artículo científico publicado en 2017

Impact of the COVID-19 lockdown on basic science research in ophthalmology: the experience of a highly specialized research facility in France

scientific article published on 07 May 2020

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

scientific article published on March 2017

LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.

artículo científico publicado en 2015

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)

scientific journal article

MERTK mutations update in inherited retinal diseases.

artículo científico publicado en 2018

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights

artículo científico publicado en 2016

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort

artículo científico publicado en 2014

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

artículo científico publicado en 2013

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

artículo científico publicado en 2017

Multimodal imaging and functional correlations identify unusual cases of macular retinal pigment epithelium hypopigmentation occurring without functional loss.

artículo científico publicado en 2017

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.

artículo científico publicado en 2018

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

article

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2010

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

artículo científico publicado en 2014

Mutations in IMPG1 cause vitelliform macular dystrophies.

artículo científico publicado en 2013

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

artículo científico publicado en 2017

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

scientific article published on 22 August 2018

NMNAT1 mutations cause Leber congenital amaurosis

artículo científico publicado en 2012

Neoplasia and intraocular inflammation: From masquerade syndromes to immunotherapy-induced uveitis

scientific article published on 12 May 2019

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes

artículo científico publicado en 2019

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

artículo científico publicado en 2015

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness

artículo científico publicado en 2016

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

artículo científico publicado en 2011

Novel Missense Mutations in Are Associated with Bestrophinopathies in Lebanese Patients

article

Partial characterization of retina-derived cone neuroprotection in two culture models of photoreceptor degeneration.

artículo científico publicado en 2003

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

artículo científico publicado en 2019

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis

article

Poppers-associated retinal toxicity.

artículo científico publicado en 2010

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

artículo científico publicado en 2010

Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).

artículo científico publicado en 2017

Progressive retinal dysfunction in diffuse unilateral subacute neuroretinitis.

artículo científico publicado en 2006

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

scientific article published on 01 September 2007

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation

artículo científico

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

artículo científico publicado en 2013

Retinal and cochlear toxicity of drugs: new insights into mechanisms and detection

artículo científico

Retinal degeneration in mucopolysaccharidose type II

artículo científico publicado en 2012

Retinal findings in a patient of French ancestry with CABP4-related retinal disease

artículo científico publicado en 2018

Retinal toxicity after intracameral use of a standard dose of cefuroxime during cataract surgery

artículo científico publicado en 2014

Retinitis Pigmentosa and Other Dystrophies

artículo científico publicado en 2017

Retinochoroidal Anastomosis Associated With Enhanced S-cone Syndrome

artículo científico publicado en 2017

Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45

article

Seven new loci associated with age-related macular degeneration

artículo científico publicado en 2013

Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.

artículo científico publicado en 2015

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2

artículo científico publicado en 2014

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

artículo científico publicado en 2010

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2009

TRPM1, un nouveau gène impliqué dans la cécité nocturne congénitale stationnaire

article

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy

artículo científico publicado en 2015

Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial.

artículo científico publicado en 2016

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

artículo científico publicado en 2013

The genetics of rod-cone dystrophy in Arab countries: a systematic review

artículo científico publicado en 2020

Threshold levels of visual field and acuity loss related to significant decreases in the quality of life and emotional states of patients with retinitis pigmentosa

artículo científico publicado en 2015

Update on recommendations for screening for hydroxychloroquine retinopathy

artículo científico publicado en 2017

Vitamin D analogs, a new treatment for retinoblastoma: The first Ellsworth Lecture.

artículo científico publicado en 2002

Vitamin D analogues increase p53, p21, and apoptosis in a xenograft model of human retinoblastoma.

artículo científico publicado en 2003

WDR34, a candidate gene for non-syndromic rod-cone dystrophy

artículo científico publicado en 2020

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

scientific article published on 28 March 2019

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

artículo científico publicado en 2018

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

artículo científico publicado en 2012

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

artículo científico publicado en 2014

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

[Management of congenital microphthalmos and anophthalmos]

scientific article published on 01 January 1997

Lista de obras de Isabelle Audo

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.

Adult-onset foveomacular vitelliform dystrophy: A fresh perspective.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

An unusual retinal phenotype associated with a novel mutation in RHO.

Aripiprazole-induced chorioretinopathy: multimodal imaging and electrophysiological features

Autofluorescence imaging in a case of benign familial fleck retina.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

CRB1 mutations in inherited retinal dystrophies

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial

Clinical characteristics and current therapies for inherited retinal degenerations

Cone dystrophy in patient with homozygous RP1L1 mutation.

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

Current challenges of ophthalmology in France

De novo splice mutation in the versican gene in a family with Wagner syndrome

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein

EYS is a major gene for rod-cone dystrophies in France.

Electrophysiological features and multimodal imaging in ritonavir-related maculopathy.

Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation

Evaluation of retinal function and flicker light-induced retinal vascular response in normotensive patients with diabetes without retinopathy

Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Foveal damage in habitual poppers users.

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes

Functional and high resolution retinal imaging assessment in a case of ocular siderosis

Functional and high-resolution retinal imaging monitoring photoreceptor damage in acute macular neuroretinopathy

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.

Genotypic and phenotypic characterization of P23H line 1 rat model

Genotyping microarray for CSNB-associated genes.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features

Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis.

Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults.

Impact of the COVID-19 lockdown on basic science research in ophthalmology: the experience of a highly specialized research facility in France

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)

MERTK mutations update in inherited retinal diseases.

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Multimodal imaging and functional correlations identify unusual cases of macular retinal pigment epithelium hypopigmentation occurring without functional loss.

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Mutations in IMPG1 cause vitelliform macular dystrophies.

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

NMNAT1 mutations cause Leber congenital amaurosis

Neoplasia and intraocular inflammation: From masquerade syndromes to immunotherapy-induced uveitis

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

Novel Missense Mutations in Are Associated with Bestrophinopathies in Lebanese Patients

Partial characterization of retina-derived cone neuroprotection in two culture models of photoreceptor degeneration.

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis

Poppers-associated retinal toxicity.

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).

Progressive retinal dysfunction in diffuse unilateral subacute neuroretinitis.

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Retinal and cochlear toxicity of drugs: new insights into mechanisms and detection