Alport Syndrome

Known as: Hereditary Nephritis, NEPHRITIS WITH NERVE DEAFNESS, HEREDITARY, HEREDITARY NEPHRITIS ALPORTS SYNDROME 
A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1961-2017
02040608019612017

Papers overview

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2010
2010
Mutations in the COL4A5 gene cause X-linked Alport syndrome (XLAS). Understanding the correlation between clinical manifestations… (More)
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Highly Cited
2003
Highly Cited
2003
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and… (More)
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Highly Cited
2000
Highly Cited
2000
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis… (More)
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1997
1997
Ocular abnormalities are common in X-linked Alport syndrome, but they have not been studied in patients with the rarer autosomal… (More)
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Highly Cited
1996
Highly Cited
1996
A mouse model for the autosomal form of Alport syndrome was produced. These mice develop a progressive glomerulonephritis with… (More)
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Highly Cited
1996
Highly Cited
1996
Collagen IV is a major structural component of all basal laminae (BLs). Six collagen IV alpha chains are present in mammals… (More)
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Highly Cited
1994
Highly Cited
1994
Alport syndrome (AS) is an hereditary disease of basement membranes characterized by progressive renal failure and deafness… (More)
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Highly Cited
1990
Highly Cited
1990
X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by… (More)
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1985
1985
Forty-one families have been studied with stringent diagnostic criteria of Alport syndrome: proven renal disease with hematuria… (More)
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1972
1972
The pathogenesis of Alport's syndrome is not known; later histologic findings are controversial, and the site of early pathologic… (More)
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