Lista de obras -

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

artículo científico publicado en 2015

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

artículo científico publicado en 2017

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens

artículo científico publicado el 3 de mayo de 2012

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

artículo científico publicado en 2010

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

artículo científico publicado en 2003

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options

artículo científico publicado en 2013

Bevacizumab in age-related macular degeneration: a randomized controlled trial on the effect of injections every 4 weeks, 6 weeks and 8 weeks ⬇️

artículo científico publicado el 15 de junio de 2013

CRB1 mutation spectrum in inherited retinal dystrophies

artículo científico publicado en 2004

Clinical course of cone dystrophy caused by mutations in the RPGR gene

artículo científico publicado en 2011

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy

artículo científico publicado en 2010

Development of refractive errors - what can we learn from inherited retinal dystrophies?

artículo científico publicado en 2017

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

artículo científico publicado en 2017

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

artículo científico publicado en 2014

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

artículo científico publicado en 2011

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype

artículo científico publicado en 2012

Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.

artículo científico publicado en 2002

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

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

artículo científico publicado en 2011

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

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

artículo científico publicado en 2007

Long-term effect of gene therapy on Leber's congenital amaurosis

artículo científico publicado en 2015

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

artículo científico publicado en 2004

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

artículo científico publicado en 2006

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

artículo científico publicado en 2017

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

artículo científico publicado en 2007

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

scientific journal article

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 mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

artículo científico publicado en 2013

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

artículo científico publicado en 2012

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

artículo científico publicado en 2014

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

artículo científico publicado en 2010

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

artículo científico publicado el 10 de febrero de 2012

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

artículo científico publicado en 2016

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

artículo científico publicado en 2010

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

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 novel LCA5 mutations and new genotype-phenotype correlations

artículo científico publicado en 2013

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

artículo científico publicado en 2015

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases

artículo científico publicado en 2014

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

artículo científico publicado en 2015

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

artículo científico publicado en 2016

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

artículo científico publicado en 2017

Lista de obras de

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens

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

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options

Bevacizumab in age-related macular degeneration: a randomized controlled trial on the effect of injections every 4 weeks, 6 weeks and 8 weeks ⬇️

CRB1 mutation spectrum in inherited retinal dystrophies

Clinical course of cone dystrophy caused by mutations in the RPGR gene

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy

Development of refractive errors - what can we learn from inherited retinal dystrophies?

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype

Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.

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

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

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.

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

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

Long-term effect of gene therapy on Leber's congenital amaurosis

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

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

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

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

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

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

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

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 mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

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

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

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)

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

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.