Lista de obras -

A Review of Secondary Photoreceptor Degenerations in Systemic Disease

artículo científico publicado en 2014

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

artículo científico publicado en 2009

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa

artículo científico publicado en 2014

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

artículo científico publicado en 2015

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

artículo científico publicado en 2014

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

artículo científico publicado en 2004

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

artículo científico publicado en 2014

A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p

artículo científico publicado en 2005

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing

artículo científico publicado en 2011

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

artículo científico publicado en 2010

A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.

artículo científico publicado en 2004

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

scientific journal article

Abnormal retinal architecture in a 33-week-old fetus with LCA and a homozygous C330Y mutation in RPE65.

artículo científico publicado en 2003

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy

scientific article published on 12 November 2018

Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy

scientific article published on 05 May 2020

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness

scholarly article by Ji Yun Song published in June 2018

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

artículo científico publicado en 2008

An overview of Leber congenital amaurosis: a model to understand human retinal development

artículo científico publicado en 2004

Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration

artículo científico publicado en 2018

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

artículo científico publicado en 2012

CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis

artículo científico publicado en 2006

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia

artículo científico publicado en 2014

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

artículo científico publicado en 2010

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

artículo científico publicado en 2005

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

artículo científico publicado en 2015

Choroideremia is caused by a defective phagocytosis by the RPE of photoreceptor disc membranes, not by an intrinsic photoreceptor defect

scientific article published on 01 September 2007

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

artículo científico publicado en 2012

Combining Cep290 and Mkksciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

artículo científico publicado en 2012

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions

artículo científico publicado en 2014

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

artículo científico publicado en 2013

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies ⬇️

artículo científico publicado el 9 de enero de 2013

Correction: Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response

artículo científico publicado en 2017

Cumulative Effect of Risk Alleles in CFH, ARMS2, and VEGFA on the Response to Ranibizumab Treatment in Age-related Macular Degeneration ⬇️

artículo científico publicado el 26 de julio de 2012

Development of a genotyping microarray for Usher syndrome

artículo científico publicado en 2006

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

artículo científico publicado en 2009

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

artículo científico publicado en 2011

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations

artículo científico publicado en 2002

Erratum to: Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up

artículo científico publicado en 2016

Evaluation of genotype-phenotype associations in leber congenital amaurosis

artículo científico publicado en 2005

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

artículo científico publicado en 2012

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

artículo científico publicado en 2012

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

artículo científico publicado en 2004

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

artículo científico publicado en 2016

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

artículo científico publicado en 2007

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

artículo científico publicado en 2015

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

artículo científico publicado en 2005

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

artículo científico publicado en 2010

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

artículo científico publicado en 2009

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

artículo científico publicado en 2007

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.

artículo científico publicado en 2016

IQCB1 mutations in patients with leber congenital amaurosis.

artículo científico publicado en 2011

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

artículo científico publicado en 2008

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

artículo científico publicado en 2016

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

artículo científico publicado en 2022

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

artículo científico publicado en 2007

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

artículo científico

Leber congenital amaurosis: ciliary proteins on the move

scientific article published on 01 September 2007

Leber congenital amaurosis: genes, proteins and disease mechanisms

artículo científico publicado en 2008

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.

artículo científico publicado en 2001

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

artículo científico publicado en 2017

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

artículo científico publicado en 2010

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

artículo científico publicado en 2006

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

artículo científico publicado en 2013

Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome

scientific article published on 07 August 2019

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease

artículo científico publicado en 2007

Mutations in IMPG1 cause vitelliform macular dystrophies.

artículo científico publicado en 2013

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

artículo científico publicado en 2007

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

artículo científico publicado en 2014

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

artículo científico publicado en 2012

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

scientific journal article

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

scientific article published on 05 March 2009

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

artículo científico publicado en 2007

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

artículo científico publicado en 2006

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

artículo científico publicado en 2010

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

scientific journal article

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

scientific article published on 24 October 2013

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2013

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

artículo científico publicado en 2014

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290 ⬇️

artículo científico publicado el 10 de febrero de 2012

Optimal compliance for amblyopia therapy: occlusion with a translucent tape on the lens

scientific article published on 01 October 2009

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial

scientific article published on 13 July 2014

Orbital cellulitis and multiple abscess formation after strabismus surgery

artículo científico publicado en 2016

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

artículo científico publicado en 2010

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

artículo científico publicado en 2011

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa

scientific article published on 27 November 2020

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies

artículo científico publicado en 2019

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

artículo científico publicado en 2012

Revisiting Congenital Stationary Night Blindness in the Molecular Era

artículo científico publicado en 2018

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

artículo científico publicado en 2016

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)

artículo científico publicado en 2015

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies NovelLCA5Mutations and New Genotype-Phenotype Correlations

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

artículo científico publicado en 2013

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

artículo científico publicado en 2005

Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response

artículo científico publicado en 2016

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

artículo científico publicado en 2020

Successful RPE65 gene replacement and improved visual function in humans

artículo científico publicado en 2008

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

artículo científico publicado en 2011

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

scientific article published on February 2017

The Relationship Between Cognitive Status and Known Single Nucleotide Polymorphisms in Age-Related Macular Degeneration

artículo científico publicado en 2020

The effects of the age of onset of strabismus on monocular and binocular visual function in genetically identical twins

artículo científico publicado en 2018

The major gene for Bardet-Biedl syndrome is BBS1

artículo científico publicado en 2003

The photopic ERG luminance-response function (photopic hill): method of analysis and clinical application.

artículo científico publicado en 2003

Treatments for inherited retinal degenerations are coming to Canada: Brief update on a new standard of care for inherited retinal degenerations

artículo científico publicado en 2020

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

artículo científico publicado en 2013

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

artículo científico publicado en 2006

Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy

artículo científico publicado en 2019

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Visual improvement in Leber congenital amaurosis and the CRX genotype

artículo científico publicado en 2002

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

artículo científico publicado en 2013

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 mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

Why Some Photoreceptors Die, While Others Remain Dormant: Lessons FromRPE65andLRATAssociated Retinal Dystrophies ⬇️

artículo científico publicado el 26 de enero de 2011

Why do cone photoreceptors die in rod-specific forms of retinal degenerations?

scientific article published on September 2009

Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up

artículo científico publicado en 2016

Lista de obras de

A Review of Secondary Photoreceptor Degenerations in Systemic Disease

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Abnormal retinal architecture in a 33-week-old fetus with LCA and a homozygous C330Y mutation in RPE65.

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy

Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

An overview of Leber congenital amaurosis: a model to understand human retinal development

Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

Choroideremia is caused by a defective phagocytosis by the RPE of photoreceptor disc membranes, not by an intrinsic photoreceptor defect

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

Combining Cep290 and Mkksciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies ⬇️

Correction: Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response

Cumulative Effect of Risk Alleles in CFH, ARMS2, and VEGFA on the Response to Ranibizumab Treatment in Age-related Macular Degeneration ⬇️

Development of a genotyping microarray for Usher syndrome

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

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations

Erratum to: Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up

Evaluation of genotype-phenotype associations in leber congenital amaurosis

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.

IQCB1 mutations in patients with leber congenital amaurosis.

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

Leber congenital amaurosis: ciliary proteins on the move

Leber congenital amaurosis: genes, proteins and disease mechanisms

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

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

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease

Mutations in IMPG1 cause vitelliform macular dystrophies.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.