(Q34104042)

31 July 2017

Dominant mutations in RP1L1 are responsible for occult macular dystrophy (English)

1 reference

31 July 2017

occult macular dystrophy

1 reference

Masakazu Akahori

1

1 reference

31 July 2017

Kazushige Tsunoda

2

1 reference

31 July 2017

Yozo Miyake

3

1 reference

31 July 2017

Yoko Fukuda

4

1 reference

31 July 2017

Hiroyuki Ishiura

5

1 reference

31 July 2017

Shoji Tsuji

6

1 reference

31 July 2017

Tomoaki Usui

7

1 reference

31 July 2017

Tetsuhisa Hatase

8

1 reference

31 July 2017

Makoto Nakamura

9

1 reference

31 July 2017

Hisao Ohde

10

1 reference

31 July 2017

Takeshi Itabashi

11

1 reference

31 July 2017

Haru Okamoto

12

1 reference

31 July 2017

Yuichiro Takada

13

1 reference

31 July 2017

Takeshi Iwata

14

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 September 2010

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

87

1 reference

31 July 2017

3

1 reference

31 July 2017

424-429

1 reference

Loss of Foveal Cone Photoreceptor Outer Segments in Occult Macular Dystrophy

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

RP1 is required for the correct stacking of outer segment discs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

Multifocal electroretinogram (mfERG) in a family with occult macular dystrophy (OMD).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

Hereditary macular dystrophy without visible fundus abnormality.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933341

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa

28 October 2018

1 reference

12 December 2020

Multifocal electroretinogram in occult macular dystrophy

1 reference

12 December 2020

Optical coherence tomography findings in occult macular dystrophy

1 reference

12 December 2020

Occult macular dystrophy

1 reference

12 December 2020

10.1016/J.AJHG.2010.08.009

Identifiers

DOI

1 reference

31 July 2017

1 reference

31 July 2017

1 reference