(Q35591412)

9 August 2017

Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families (English)

1 reference

9 August 2017

0 references

X-linked retinoschisis

1 reference

F Simonelli

1

1 reference

9 August 2017

G Cennamo

2

1 reference

9 August 2017

C Ziviello

3

1 reference

9 August 2017

F Testa

4

1 reference

9 August 2017

G de Crecchio

5

1 reference

9 August 2017

A Nesti

6

1 reference

9 August 2017

M P Manitto

7

1 reference

9 August 2017

A Ciccodicola

8

1 reference

9 August 2017

S Banfi

9

1 reference

9 August 2017

R Brancato

10

1 reference

9 August 2017

E Rinaldi

11

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 September 2003

1 reference

British Journal of Ophthalmology

9 August 2017

1 reference

9 August 2017

87

1 reference

9 August 2017

9

1 reference

9 August 2017

1130-1134

1 reference

Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771850

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771850

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771850

Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771850

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771850

Positional cloning of the gene associated with X-linked juvenile retinoschisis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771850

12 July 2018

X linked retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771850

X-chromosomal congenital retinoschisis. Clinical aspects and electrophysiology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771850

Axial length and refractive error in X-linked retinoschisis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771850

Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771850

Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation

26 September 2018

1 reference

12 December 2020

[X-chromosomal congenital retinoschisis--its fundus polymorphism and visual function (author's transl)]

1 reference

12 December 2020

Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis

1 reference

12 December 2020

Detection of the carrier state of X-linked retinoschisis

1 reference

12 December 2020

Focal macular electroretinogram in X-linked congenital retinoschisis

1 reference

12 December 2020

Clinical features in affected males with X-linked retinoschisis

1 reference

12 December 2020

Macula study with standardized echography

1 reference

12 December 2020

Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

1 reference

12 December 2020

A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation

1 reference

12 December 2020

Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave

1 reference

12 December 2020

Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.87.9.1130

1 reference

9 August 2017

1 reference

9 August 2017

1 reference