Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing (Q34646786)

3 August 2017

title

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing (English)

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3 August 2017

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Eric A Pierce

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David G Birch

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George M Weinstock

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Stephen P Daiger

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3 August 2017

Robert Fulton

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3 August 2017

Sara J Bowne

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3 August 2017

Lori S Sullivan

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3 August 2017

Daniel C Koboldt

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3 August 2017

Li Ding

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3 August 2017

Rachel M Abbott

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3 August 2017

Erica J Sodergren

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3 August 2017

Dianna H Wheaton

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3 August 2017

John R Heckenlively

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3 August 2017

Qin Liu

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3 August 2017

language of work or name

English

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publication date

25 January 2011

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Investigative Ophthalmology Visual Science

3 August 2017

published in

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3 August 2017

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3 August 2017

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3 August 2017

page(s)

494-503

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

3 August 2017

cites work

1 reference

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7 July 2018

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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

7 July 2018

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7 July 2018

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Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa

7 July 2018

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7 July 2018

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7 July 2018

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Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa

7 July 2018

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7 July 2018

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7 July 2018

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Perspective on genes and mutations causing retinitis pigmentosa

7 July 2018

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7 July 2018

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Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa

7 July 2018

1 reference

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Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

7 July 2018

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7 July 2018

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Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

7 July 2018

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7 July 2018

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Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

7 July 2018

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Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn

7 July 2018

1 reference

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Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes

7 July 2018

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Identifying retinal disease genes: how far have we come, how far do we have to go?

7 July 2018

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RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

7 July 2018

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Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor

7 July 2018

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Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts

7 July 2018

1 reference

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Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

7 July 2018

1 reference

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7 July 2018

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A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053293

Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa

7 July 2018

1 reference

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Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway

7 July 2018

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The human retinitis pigmentosa GTPase regulator gene variant database

7 July 2018

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The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa

26 October 2018

1 reference

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Microarray-based genomic selection for high-throughput resequencing

26 October 2018

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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

26 October 2018

1 reference

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Mutational analysis of the rhodopsin gene in Chinese ADRP families by conformation sensitive gel electrophoresis

26 October 2018

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Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053293

Prevalence and causes of visual impairment and blindness among 9980 Scandinavian adults: the Copenhagen City Eye Study.

26 October 2018

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Molecular genetic analysis for Japanese patients with autosomal dominant retinitis pigmentosa

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053293

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053293

Epidemiology of retinitis pigmentosa in Denmark

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053293

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053293

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053293

Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20861475

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prevalence of retinitis pigmentosa in Maine

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20861475

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1167/IOVS.10-6180

1 reference

3 August 2017

1 reference

3 August 2017

1 reference