(Q35762932)

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Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa

scientific article published on 17 August 2006

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16916875%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

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Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16916875%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

4

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Europe PubMed Central

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28 December 2019

5

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Europe PubMed Central

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28 December 2019

author name string

B P Leroy

1

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Europe PubMed Central

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28 December 2019

A Kailasanathan

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16916875%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

J-J De Laey

3

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Europe PubMed Central

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28 December 2019

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17 August 2006

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Europe PubMed Central

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28 December 2019

British Journal of Ophthalmology

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16916875%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

91

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16916875%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16916875%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

89-93

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16916875%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Uncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Standard for clinical electro-oculography. International Society for Clinical Electrophysiology of Vision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Heterologous expression of photoreceptor peripherin/rds and Rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

2 October 2017

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

27 July 2018

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

25 September 2018

Standard for clinical electroretinography (2004 update).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

25 September 2018

Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

25 September 2018

Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

25 September 2018

A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

25 September 2018

Standard for pattern electroretinography. International Society for Clinical Electrophysiology of Vision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

25 September 2018

A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

25 September 2018

Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857593

25 September 2018

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous 'null allele' mutation in the human peripherin/RDS gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical Features of a Previously Undescribed Codon 216 (proline to serine) Mutation in the Peripherin/Retinal Degeneration Slow Gene in Autosomal Dominant Retinitis Pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serine-27-Phenylalanine Mutation within the Peripherin/RDS Gene in a Family with Cone Dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16916875

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/BJO.2006.101915

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16916875%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16916875%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16916875%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

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