Lista de obras -

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2009

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

artículo científico publicado en 2009

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

artículo científico publicado en 2019

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.

artículo científico publicado en 2018

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

artículo científico publicado en 2009

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

artículo científico publicado en 2008

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.

artículo científico publicado en 2018

CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa ⬇️

artículo científico publicado el 18 de febrero de 2011

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W

artículo científico publicado en 2006

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

artículo científico publicado en 2016

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68.

artículo científico publicado en 2018

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

artículo científico publicado en 2017

Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish

scientific article published on 27 July 2018

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration ⬇️

artículo científico publicado en 2014

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

artículo científico publicado en 2015

Identification of Novel Mutations in Pakistani Families With Autosomal Recessive Retinitis Pigmentosa ⬇️

artículo científico publicado el 1 de octubre de 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 COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

scientific article published on 01 August 2006

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

artículo científico publicado en 2020

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2007

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

artículo científico publicado en 2008

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

artículo científico publicado en 2009

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa ⬇️

artículo científico publicado el 15 de diciembre de 2010

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

artículo científico publicado en 2008

Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges

scientific article published on 28 August 2019

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

scientific journal article

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

artículo científico publicado en 2006

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

artículo científico publicado en 2008

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

artículo científico publicado en 2008

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

artículo científico publicado en 2010

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

artículo científico publicado en 2010

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

artículo científico publicado en 2014

Phenotype description of a novel DFNA9/COCH mutation, I109T.

artículo científico publicado en 2007

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in <i>TMC1</i> ⬇️

artículo científico publicado el 26 de junio de 2010

Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

artículo científico publicado en 2009

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

artículo científico publicado en 2013

Lista de obras de

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.

CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa ⬇️

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68.

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration ⬇️

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

Identification of Novel Mutations in Pakistani Families With Autosomal Recessive Retinitis Pigmentosa ⬇️

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

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa ⬇️

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in &lt;i&gt;TMC1&lt;/i&gt; ⬇️

Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in <i>TMC1</i> ⬇️