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Retinoschisis, Juvenile, X-Linked

Known as: Juvenile X-Linked Retinoschisis, Retinoschisis X-Linked Juvenile, X-Linked Juvenile Retinoschisis 
X chromosome recessive disorder, found nearly exclusively in males and becoming apparent around puberty. Characterized initially by a cystlike… 
National Institutes of Health

Related topics

Related topics

2 relations

Broader (1)

Retinoschisis
Retinoschisis, Degenerative

Papers overview

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Highly Cited
2010
Highly Cited
2010
Ceftriaxone-induced up-regulation of cortical and striatal GLT1 in the R6/2 model of Huntington's disease
BackgroundHuntington's disease (HD) is an inherited neurodegenerative disorder characterized by cortico-striatal dysfunction and… 
Highly Cited
2008
Highly Cited
2008
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT
Purpose X-linked congenital retinoschisis (RS) is a relatively frequent retinal dystrophy associated with RS1 gene mutations. A… 
Highly Cited
2007
Highly Cited
2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
PURPOSE Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) cause severe visual impairment early in life… 
Highly Cited
2002
Highly Cited
2002
Functional association of the parkin gene promoter with idiopathic Parkinson's disease.
Loss-of-function mutations in the parkin gene were first identified in autosomal recessive juvenile parkinsonism (AR-JP… 
Highly Cited
1999
Highly Cited
1999
Assessment of RS1 in X‐linked juvenile retinoschisis and sporadic senile retinoschisis
The RS1 gene is the causative gene in X‐linked juvenile retinoschisis (RS). We have screened this gene for mutations in 13… 
Highly Cited
1998
Highly Cited
1998
Prevalence of factor V Leiden mutation in young adults with cerebral ischaemia: a case-control study on 225 patients
Abstract Cerebral ischaemia in young adults is a well-recognised disease, and approximately half of the cases remain… 
Highly Cited
1998
Highly Cited
1998
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3–q25.2 and mutation analysis
Abstract Autosomal dominant juvenile open angle glaucoma (JOAG) is an early-onset form of primary open angle glaucoma (POAG… 
Highly Cited
1996
Highly Cited
1996
Clinical significance of specific autoantibodies in juvenile dermatomyositis.
OBJECTIVE To determine the prevalence and clinical association of myositis specific antibodies in an unselected group of patients… 
Highly Cited
1984
Highly Cited
1984
Autosomal recessive inheritance of juvenile periodontitis: test of a hypothesis
The heredity of juvenile periodontitis was studied in a series of 30 families. None of the 60 parents showed any sign of this… 
Highly Cited
1972
Highly Cited
1972
Pathology of hereditary juvenile retinoschisis.
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