(Q36979913)

17 August 2017

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa (English)

1 reference

17 August 2017

2

S P Daiger

1 reference

17 August 2017

S J Bowne

1

1 reference

17 August 2017

M M Hims

3

1 reference

17 August 2017

M M Sohocki

4

1 reference

17 August 2017

K A Malone

5

1 reference

17 August 2017

A B McKie

6

1 reference

17 August 2017

J R Heckenlively

7

1 reference

17 August 2017

D G Birch

8

1 reference

17 August 2017

C F Inglehearn

9

1 reference

17 August 2017

S S Bhattacharya

10

1 reference

17 August 2017

A Bird

11

1 reference

17 August 2017

L S Sullivan

12

1 reference

17 August 2017

1 October 1999

1 reference

17 August 2017

Human Molecular Genetics

1 reference

17 August 2017

8

1 reference

17 August 2017

11

1 reference

17 August 2017

2121-2128

1 reference

A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585827

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585827

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585827

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585827

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585827

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585827

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585827

Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585827

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585827

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585827

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285

4 September 2018

1 reference

12 December 2020

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/8.11.2121

1 reference

17 August 2017

1 reference

17 August 2017

1 reference