Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. (Q42790183)

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scientific article published on 17 April 2013

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English	Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.	scientific article published on 17 April 2013

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28 February 2020

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies (English)

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28 February 2020

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28 February 2020

Eberhart Zrenner

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28 February 2020

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Nicola Glöckle

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28 February 2020

Julia Mohr

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28 February 2020

Tim Scheurenbrand

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28 February 2020

Andrea Sprecher

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28 February 2020

Nicole Weisschuh

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28 February 2020

Antje Bernd

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28 February 2020

Günther Rudolph

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28 February 2020

Max Schubach

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28 February 2020

Charlotte Poloschek

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28 February 2020

Saskia Biskup

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28 February 2020

Wolfgang Berger

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28 February 2020

Bernd Wissinger

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28 February 2020

John Neidhardt

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28 February 2020

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17 April 2013

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28 February 2020

European Journal of Human Genetics

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28 February 2020

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28 February 2020

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28 February 2020

99-104

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28 February 2020

Next-generation genetic testing for retinitis pigmentosa

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27 May 2018

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

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27 May 2018

Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing

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27 May 2018

In-depth annotation of SNPs arising from resequencing projects using NGS-SNP

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27 May 2018

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

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27 May 2018

Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region

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27 May 2018

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

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27 May 2018

The molecular basis of human retinal and vitreoretinal diseases

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27 May 2018

Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa

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27 May 2018

Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.

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27 May 2018

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs

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27 May 2018

Genotyping microarray for CSNB-associated genes.

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27 May 2018

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

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27 May 2018

Retinitis pigmentosa

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27 May 2018

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

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27 May 2018

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations

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Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

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Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

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27 May 2018

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

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16 August 2018

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

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Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

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ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype

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28 February 2020

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