Lista de obras -

A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.

artículo científico publicado en 1994

A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.

artículo científico publicado en 2005

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.

artículo científico publicado en 2003

A comparison of ERG abnormalities in XLRS and XLCSNB.

artículo científico publicado en 2004

A locus for isolated cataract on human Xp.

artículo científico publicado en 2002

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness

artículo científico publicado en 2020

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

artículo científico publicado en 2012

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders

artículo científico publicado en 2002

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

artículo científico publicado en 2018

Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins.

artículo científico publicado en 2012

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

artículo científico publicado en 2017

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

artículo científico publicado en 2017

Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa.

artículo científico publicado en 2005

Assignment of the neuronal cochaperone, HSJ1, to human chromosome bands 2q32-->q34 between D2S295 and D2S339 by in situ hybridization and somatic cell and radiation hybrids.

artículo científico publicado en 1999

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel

artículo científico publicado en 2007

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

artículo científico publicado en 2014

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy ⬇️

artículo científico publicado en 2017

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

artículo científico publicado en 2015

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.

artículo científico publicado en 2004

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

artículo científico publicado en 2017

Blue cone monochromacy: causative mutations and associated phenotypes.

artículo científico publicado en 2009

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

article

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.

scientific article published on July 2016

Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations.

artículo científico publicado en 2016

Control of spasticity in a multiple sclerosis model using central nervous system-excluded CB1 cannabinoid receptor agonists

artículo científico publicado en 2013

Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.

artículo científico publicado en 2013

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

artículo científico publicado en 2012

Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.

artículo científico publicado en 2002

Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation

artículo científico publicado en 2014

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

artículo científico publicado en 2018

Evidence for a new locus for X-linked retinitis pigmentosa (RP23)

artículo científico publicado en 2000

FISH mapping of 22 novel X chromosome cosmids and the isolation of a novel microsatellite on proximal Xp

scientific article published on 01 January 1995

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

artículo científico publicado en 2017

Focus on molecules: nyctalopin

artículo científico publicado en 2005

Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.

artículo científico

Genetic and physical mapping of five novel microsatellite markers on human Xp21.1-p11.22

artículo científico publicado en 1995

Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2.

artículo científico publicado en 1997

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy

artículo científico publicado en 2016

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness ⬇️

artículo científico publicado el 1 de noviembre de 2003

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

artículo científico publicado en 2015

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation

artículo científico publicado en 2012

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

artículo científico publicado en 2013

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

artículo científico publicado en 2016

Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

artículo científico publicado en 2014

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy

artículo científico publicado en 2002

Identification of three novel NHS mutations in families with Nance-Horan syndrome

artículo científico publicado en 2007

Investigation of SLA4A3 as a candidate gene for human retinal disease

artículo científico publicado en 2016

Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?

artículo científico publicado en 2005

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

artículo científico publicado en 2002

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp

artículo científico publicado en 1997

Macular corneal dystrophy and associated corneal thinning.

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.

artículo científico publicado en 2011

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa

artículo científico publicado en 2013

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

scientific journal article

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

scientific journal article

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).

artículo científico publicado en 2015

Mutations in the CACNA1F and NYX genes in British CSNBX families

artículo científico publicado en 2003

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

artículo científico publicado en 2000

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

artículo científico publicado en 1999

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

artículo científico publicado en 2017

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands

scientific article published on 31 May 2006

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy

artículo científico publicado en 2005

Novel homozygous splicing mutations in cause autosomal recessive retinitis pigmentosa

artículo científico publicado en 2018

Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling.

artículo científico publicado en 2007

Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene.

artículo científico publicado en 2001

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting ⬇️

artículo científico publicado en 2003

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

artículo científico publicado en 2017

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype

artículo científico publicado en 2017

Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes theVSX1Gene

article

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

artículo científico publicado en 2006

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

scientific article published on 08 February 2012

RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.

artículo científico publicado en 2016

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

artículo científico publicado en 2016

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

artículo científico publicado en 2004

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

artículo científico publicado en 2004

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations

artículo científico publicado en 2018

Retinal dysfunction and high myopia in association with 48,XXYY syndrome

scientific article published on 19 September 2013

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

article

Sequence variation within the RPGR gene: evidence for a founder complex allele

artículo científico publicado en 2000

Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation

article

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene

artículo científico publicado en 2014

Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family

artículo científico publicado en 2016

The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.

artículo científico publicado en 2010

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.

artículo científico publicado en 2011

The cone dysfunction syndromes

artículo científico publicado en 2015

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

scientific article published on 05 December 2012

The pathogenesis of keratoconus

artículo científico publicado en 2014

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Translational Retinal Research and Therapies

artículo científico publicado en 2018

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.

artículo científico publicado en 2014

Unfolding retinal dystrophies: a role for molecular chaperones?

artículo científico publicado en 2001

Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies

artículo científico publicado en 2016

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

artículo científico publicado en 2010

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development

artículo científico publicado en 2012

cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4)

artículo científico publicado en 1995

Lista de obras de

A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.

A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.

A comparison of ERG abnormalities in XLRS and XLCSNB.

A locus for isolated cataract on human Xp.

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness

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

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins.

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa.

Assignment of the neuronal cochaperone, HSJ1, to human chromosome bands 2q32-->q34 between D2S295 and D2S339 by in situ hybridization and somatic cell and radiation hybrids.

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy ⬇️

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Blue cone monochromacy: causative mutations and associated phenotypes.

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.

Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations.

Control of spasticity in a multiple sclerosis model using central nervous system-excluded CB1 cannabinoid receptor agonists

Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.

Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Evidence for a new locus for X-linked retinitis pigmentosa (RP23)

FISH mapping of 22 novel X chromosome cosmids and the isolation of a novel microsatellite on proximal Xp

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

Focus on molecules: nyctalopin

Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.

Genetic and physical mapping of five novel microsatellite markers on human Xp21.1-p11.22

Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2.

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness ⬇️

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy

Identification of three novel NHS mutations in families with Nance-Horan syndrome

Investigation of SLA4A3 as a candidate gene for human retinal disease

Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp

Macular corneal dystrophy and associated corneal thinning.

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

Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).

Mutations in the CACNA1F and NYX genes in British CSNBX families

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy

Novel homozygous splicing mutations in cause autosomal recessive retinitis pigmentosa

Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling.

Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene.

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting ⬇️

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype

Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes theVSX1Gene

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations