Skip to search formSkip to main contentSkip to account menu

Finnish congenital nephrotic syndrome

Known as: NPHS1, Nephrotic Syndrome - NPHS1 Associated, NEPHROTIC SYNDROME, CONGENITAL 
Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three… 
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal recessive inheritanceDiffuse mesangial sclerosis (disorder)EdemaGrowth retardation

Broader (1)

Nephrosis, congenital

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2008
Review
2008
NEPHROTIC SYNDROME IN THE FIRST YEAR OF LIFE
Nephrotic syndrome during the first year of life is an uncommon condition. Usually, it is caused by congenital defects in the… 
2006
2006
Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1)
Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessively inherited disease occurring due to… 
Review
2006
Review
2006
Genetic basis of nephrotic syndrome--review.
Nephrotic syndrome (NS) is one of the most frequent syndromes characterized namely by heavy proteinuria. Majority of NS occurs as… 
2005
2005
[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].
OBJECTIVE Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of… 
Highly Cited
2004
Highly Cited
2004
WT1 activates a glomerular-specific enhancer identified from the human nephrin gene.
The glomerular filtration barrier separates the blood from the urinary space. Nephrin is a transmembrane protein that belongs to… 
Review
2003
Review
2003
Molecular structure-function relationship in the slit diaphragm.
The past 5 years have witnessed an exponential increase in our understanding of the structure and function of the glomerular slit… 
2002
2002
Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.
BACKGROUND Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder mainly caused by mutations… 
1998
1998
Long-term functional sequelae after paediatric burns.
1998
1998
Morphologic Changes Suggesting Abnormal Renal Differentiation in Congenital Nephrotic Syndrome
Retrograde differentiation (or dedifferentiation) has recently been proposed as a pathogenetic mechanism involved also in various… 
1983
1983
The thickness of the glomerular basement membrane in congenital nephrotic syndrome of the Finnish type.
Electron microscopic examination was carried out on 10 glomeruli from 4 infants with congenital nephrotic syndrome of the Finnish… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)