Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)
about
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.NPHS2 mutations account for only 15% of nephrotic syndrome cases.Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic SyndromePediatric renal diseases in the Kingdom of Saudi Arabia.Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.N-Degradomic Analysis Reveals a Proteolytic Network Processing the Podocyte Cytoskeleton.Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings.Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.Structural Basis of Highly Specific Interaction between Nephrin and MAGI1 in Slit Diaphragm Assembly and SignalingProteinuric Kidney Diseases: A Podocyte's Slit Diaphragm and Cytoskeleton ApproachCharacterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling
P2860
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P2860
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Nineteen novel NPHS1 mutations ...... nital nephrotic syndrome (CNS)
@ast
Nineteen novel NPHS1 mutations ...... nital nephrotic syndrome (CNS)
@en
Nineteen novel NPHS1 mutations ...... congenital nephrotic syndrome
@nl
type
label
Nineteen novel NPHS1 mutations ...... nital nephrotic syndrome (CNS)
@ast
Nineteen novel NPHS1 mutations ...... nital nephrotic syndrome (CNS)
@en
Nineteen novel NPHS1 mutations ...... congenital nephrotic syndrome
@nl
prefLabel
Nineteen novel NPHS1 mutations ...... nital nephrotic syndrome (CNS)
@ast
Nineteen novel NPHS1 mutations ...... nital nephrotic syndrome (CNS)
@en
Nineteen novel NPHS1 mutations ...... congenital nephrotic syndrome
@nl
P2093
P2860
P356
P1476
Nineteen novel NPHS1 mutations ...... nital nephrotic syndrome (CNS)
@en
P2093
Bugsu Ovunc
Christopher N Vlangos
Detlef Bockenhauer
Dominik S Schoeb
Friedhelm Hildebrandt
Gesselschaft für Paediatrische Nephrologie (GPN) Study Group
Gil Chernin
Jameela A Kari
James MacDonald
Khemchand N Moorani
P2860
P304
P356
10.1093/NDT/GFQ088
P407
P577
2010-02-18T00:00:00Z