(Q42790183)

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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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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23591405%20AND%20SRC:MED&resulttype=core&format=json

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

2

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28 February 2020

Eberhart Zrenner

11

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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

4

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28 February 2020

Andrea Sprecher

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28 February 2020

Nicole Weisschuh

6

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28 February 2020

Antje Bernd

7

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28 February 2020

Günther Rudolph

8

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28 February 2020

Max Schubach

9

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28 February 2020

Charlotte Poloschek

10

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28 February 2020

Saskia Biskup

12

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28 February 2020

Wolfgang Berger

13

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28 February 2020

Bernd Wissinger

14

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28 February 2020

John Neidhardt

15

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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

1 reference

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28 February 2020

22

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28 February 2020

1

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28 February 2020

99-104

1 reference

Europe PubMed Central

PMC publication ID

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28 February 2020

Next-generation genetic testing for retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

The molecular basis of human retinal and vitreoretinal diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

Genotyping microarray for CSNB-associated genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

Retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

16 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

16 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

16 August 2018

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

16 August 2018

A de novo paradigm for mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

16 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

16 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865404

16 August 2018

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

1 reference

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21 January 2018

Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.72

21 January 2018

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/23591405

12 December 2020

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10.1038/EJHG.2013.72

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28 February 2020

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28 February 2020

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28 February 2020

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