Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 227,741,298 papers from all fields of science
Search
Sign In
Create Free Account
Finnish congenital nephrotic syndrome
Known as:
NPHS1
, Nephrotic Syndrome - NPHS1 Associated
, NEPHROTIC SYNDROME, CONGENITAL
Expand
Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
10 relations
Autosomal recessive inheritance
Diffuse mesangial sclerosis (disorder)
Edema
Growth retardation
Expand
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
C. Holmberg
2008
Corpus ID: 88901198
Nephrotic syndrome during the first year of life is an uncommon condition. Usually, it is caused by congenital defects in the…
Expand
2006
2006
Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1)
H. Laakkonen
,
T. Lönnqvist
,
+7 authors
C. Holmberg
Pediatric nephrology (Berlin, West)
2006
Corpus ID: 5671659
Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessively inherited disease occurring due to…
Expand
Review
2006
Review
2006
Genetic basis of nephrotic syndrome--review.
H. Obeidová
,
M. Merta
,
+4 authors
V. Tesar
Prague Medical Report
2006
Corpus ID: 26765294
Nephrotic syndrome (NS) is one of the most frequent syndromes characterized namely by heavy proteinuria. Majority of NS occurs as…
Expand
2005
2005
[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].
Yan Shi
,
Jie Ding
,
Jing-cheng Liu
,
Hua Wang
,
D. Bu
Zhonghua er ke za zhi = Chinese journal of…
2005
Corpus ID: 19343122
OBJECTIVE Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of…
Expand
Highly Cited
2004
Highly Cited
2004
WT1 activates a glomerular-specific enhancer identified from the human nephrin gene.
Gordon Guo
,
Debra J. Morrison
,
J. Licht
,
S. Quaggin
Journal of the American Society of Nephrology
2004
Corpus ID: 25042796
The glomerular filtration barrier separates the blood from the urinary space. Nephrin is a transmembrane protein that belongs to…
Expand
Review
2003
Review
2003
Molecular structure-function relationship in the slit diaphragm.
S. Chugh
,
B. Kaw
,
Y. Kanwar
Seminars in Nephrology
2003
Corpus ID: 1033821
The past 5 years have witnessed an exponential increase in our understanding of the structure and function of the glomerular slit…
Expand
2002
2002
Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.
M. Gigante
,
F. Monno
,
+7 authors
A. Iolascon
JN. Journal of Nephrology (Milano. )
2002
Corpus ID: 9608351
BACKGROUND Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder mainly caused by mutations…
Expand
1998
1998
Long-term functional sequelae after paediatric burns.
R. Zeitlin
,
J. Järnberg
,
E. Somppi
,
B. Sundell
Burns
1998
Corpus ID: 25785822
1998
1998
Morphologic Changes Suggesting Abnormal Renal Differentiation in Congenital Nephrotic Syndrome
A. Haltia
,
M. Solin
,
C. Holmberg
,
J. Reivinen
,
A. Miettinen
,
H. Holthöfer
Pediatric Research
1998
Corpus ID: 25481894
Retrograde differentiation (or dedifferentiation) has recently been proposed as a pathogenetic mechanism involved also in various…
Expand
1983
1983
The thickness of the glomerular basement membrane in congenital nephrotic syndrome of the Finnish type.
H. Autio–Harmainen
,
J. Rapola
Nephron
1983
Corpus ID: 3285338
Electron microscopic examination was carried out on 10 glomeruli from 4 infants with congenital nephrotic syndrome of the Finnish…
Expand
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)
ACCEPT & CONTINUE