(Q35589551)

9 August 2017

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa (English)

1 reference

9 August 2017

1 reference

K Dietrich

1

1 reference

9 August 2017

F K Jacobi

2

1 reference

9 August 2017

S Tippmann

3

1 reference

9 August 2017

R Schmid

4

1 reference

9 August 2017

E Zrenner

5

1 reference

9 August 2017

B Wissinger

6

1 reference

9 August 2017

E Apfelstedt-Sylla

7

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 March 2002

1 reference

British Journal of Ophthalmology

9 August 2017

1 reference

9 August 2017

86

1 reference

9 August 2017

3

1 reference

9 August 2017

328-332

1 reference

Molecular genetics of human retinal disease

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

Expression of doublecortin correlates with neuronal migration and pattern formation in diverse regions of the developing chick brain

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

Retinitis pigmentosa: defined from a molecular point of view

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

Multifocal electroretinography in patients with Stargardt's macular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

The Drosophila bifocal gene encodes a novel protein which colocalizes with actin and is necessary for photoreceptor morphogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

A simple salting out procedure for extracting DNA from human nucleated cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

The field topography of ERG components in man—I. The photopic luminance response

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

The leucine zipper: a hypothetical structure common to a new class of DNA binding proteins

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

24 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771063

The development of the vertebrate retina: a comparative survey

24 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Multifocal electroretinography in retinitis pigmentosa

1 reference

12 December 2020

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

RP1 protein truncating mutations predominate at the RP1 adRP locus

1 reference

12 December 2020

Two forms of autosomal dominant primary retinitis pigmentosa

1 reference

12 December 2020

Autosomal dominant retinitis pigmentosa. A method of classification

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.86.3.328

1 reference

9 August 2017

1 reference

9 August 2017

1 reference