(Q24647978)

2

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Neil R A Parry

3

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Paulo E Stanga

4

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Dorothy Trump

Journal of Medical Genetics

5

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language of work or name

English

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publication date

April 2007

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published in

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volume

44

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issue

4

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page(s)

225-32

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cites work

Sensing extracellular matrix: an update on discoidin domain receptor function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Defective Discoidin Domain Structure, Subunit Assembly, and Endoplasmic Reticulum Processing of Retinoschisin are Primary Mechanisms Responsible for X-linked Retinoschisis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Alpha-crystallin can function as a molecular chaperone

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

MEMORANDUM: Regarding a Family in which Neuro-Retinal Disease of an unusual kind occurred only in the Males

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Retinoschisin forms a multi-molecular complex with extracellular matrix and cytoplasmic proteins: interactions with beta2 laminin and alphaB-crystallin.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

The incidence of negative ERG in clinical practice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Molecular genetics of the Finnish disease heritage.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Discoidin domain receptors: structural relations and functional implications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

The use of perfluorodecalin in retinal detachments with retinoschisis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Infantile presentation of X linked retinoschisis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

X-linked congenital retinoschisis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

CONGENITAL VASCULAR VEILS IN THE VITREOUS

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Familial foveal retinoschisis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Dysfunction of transmission in the inner retina: incidence and clinical causes of negative electroretinogram.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Vitreous hemorrhage as the initial manifestation of X-linked retinoschisis in a 9-month-old infant.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Retinal changes in juvenile X linked retinoschisis using three dimensional optical coherence tomography.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Indocyanine green angiography of juvenile X-linked retinoschisis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

An ENU-induced mutation in Rs1h causes disruption of retinal structure and function.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

A comparison of ERG abnormalities in XLRS and XLCSNB.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Optical coherence tomography findings in nicotinic acid maculopathy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Isolated foveal retinoschisis as a cause of visual loss in young females

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Axial length and refractive error in X-linked retinoschisis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Disruption of laminin beta2 chain production causes alterations in morphology and function in the CNS.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598044

Visual acuity in 183 cases of X-chromosomal retinoschisis

28 November 2018

1 reference

12 December 2020

OCT images and surgery of juvenile Macular retinoschisis

1 reference

12 December 2020

Correlation of optical coherence tomography findings with visual acuity and macular lesions in patients with X-linked retinoschisis

1 reference

12 December 2020

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

1 reference

12 December 2020

Foveal retinoschisis and retinal detachment in severely myopic eyes with posterior staphyloma

1 reference

12 December 2020

Electrophysiological similarities between two eyes with X-linked recessive retinoschisis

1 reference

12 December 2020

Nicotinic Acid Maculopathy

1 reference

12 December 2020

Use of dorzolamide for patients with X-linked retinoschisis

1 reference

12 December 2020

Multilayered retinoschisis associated with optic disc pit

1 reference

12 December 2020

Dominantly inherited cystoid macular edema

1 reference

12 December 2020

A proximal retinal component in the primate photopic ERG a-wave

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

Use of perfluorocarbon liquid in the repair of retinoschisis retinal detachments

1 reference

12 December 2020

Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis

1 reference

12 December 2020

Congenital hereditary (juvenile X-linked) retinoschisis. Histopathologic and ultrastructural findings in three eyes

1 reference

12 December 2020

Autosomal dominant inheritance of retinoschisis

1 reference

12 December 2020

X-chromosomal recessive retinoschisis in the Region of Pori. An ophthalmo-genetical analysis of 103 cases

1 reference

12 December 2020

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation

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 Retinoschisis

1 reference

12 December 2020

A histopathological, ultrastructural and immunohistochemical study of congenital hereditary retinoschisis

1 reference

12 December 2020

Optical coherence tomography findings in niacin maculopathy

1 reference

12 December 2020

Bilateral macular detachments in X-linked retinoschisis

1 reference

12 December 2020

Surgical management of complications associated with X-linked retinoschisis

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

Clinical features in affected males with X-linked retinoschisis

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/JMG.2006.047340

1 reference

1118803

1118803

1 reference

1 reference

1 reference