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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
2005
Highly Cited
2005
HJV gene mutations in European patients with juvenile hemochromatosis
A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients… 
Highly Cited
2003
Highly Cited
2003
Predicting metabolic rate from heart rate in juvenile Steller sea lions Eumetopias jubatus
SUMMARY The validity of using heart rate to estimate energy expenditure in free-ranging Steller sea lions Eumetopias jubatus was… 
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
2002
Highly Cited
2002
Habitat structure in soft-sediment environments and abundance of juvenile snapper Pagrus auratus
Small-scale biogenic or physical features, such as depressions, burrows, shells, boulders, cobbles and sand waves, dominate soft… 
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… 
1999
1999
A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation.
X-linked retinoschisis (XLRS) is a vitreoretinal disease responsible for most cases of juvenile macular degeneration in males… 
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
1991
Highly Cited
1991
Observations on the natural history, present status, and conservation of the insular lizard Podarcis hispanica atrata on the Columbretes archipelago, Spain
Highly Cited
1986
Highly Cited
1986
Parent psychopathology and family functioning among childhood firesetters
The purpose of this study was to identify parent and family characteristics related to juvenile firesetting and antisocial… 
Highly Cited
1972
Highly Cited
1972
Pathology of hereditary juvenile retinoschisis.
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