Exploring the genetic basis of early-onset chronic kidney disease.
about
Juvenile nephronophthisis and dysthyroidism: a rare associationThe Effect of Cortex/Medulla Proportions on Molecular Diagnoses in Kidney Transplant Biopsies: Rejection and Injury Can Be Assessed in Medulla.Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.Chronic kidney disease in children.Podocyte number and density changes during early human life.Podocytes and the quest for precision medicines for kidney diseases.Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.The contribution of branching morphogenesis to kidney development and disease.Renal transplantation in Bardet-Biedl Syndrome.Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomicsModeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte.Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.Genomic medicine for kidney disease.Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.Towards precision nephrology: the opportunities and challenges of genomic medicine.Long-term expression of glomerular genes in diabetic nephropathy.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.BMP4 uses several different effector pathways to regulate proliferation and differentiation in the epithelial and mesenchymal tissue compartments of the developing mouse ureter.A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.Cystic Kidney Diseases From the Adult Nephrologist's Point of View.Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.Mutations in multiple components of the nuclear pore complex cause nephrotic syndromeOpportunities and Challenges for Genetic Studies of End-Stage Renal Disease in CanadaLarge-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levelsChronic kidney diseaseGenetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred PopulationIdentification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease
P2860
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P2860
Exploring the genetic basis of early-onset chronic kidney disease.
description
2016 nî lūn-bûn
@nan
2016 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Exploring the genetic basis of early-onset chronic kidney disease.
@ast
Exploring the genetic basis of early-onset chronic kidney disease.
@en
Exploring the genetic basis of early-onset chronic kidney disease.
@nl
type
label
Exploring the genetic basis of early-onset chronic kidney disease.
@ast
Exploring the genetic basis of early-onset chronic kidney disease.
@en
Exploring the genetic basis of early-onset chronic kidney disease.
@nl
prefLabel
Exploring the genetic basis of early-onset chronic kidney disease.
@ast
Exploring the genetic basis of early-onset chronic kidney disease.
@en
Exploring the genetic basis of early-onset chronic kidney disease.
@nl
P2860
P356
P1476
Exploring the genetic basis of early-onset chronic kidney disease.
@en
P2093
Friedhelm Hildebrandt
P2860
P2888
P304
P356
10.1038/NRNEPH.2015.205
P407
P50
P577
2016-01-11T00:00:00Z
P5875
P6179
1028931796