Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT) - Wikidata - awgldk - TriplyDB

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)

http://www.wikidata.org/entity/Q35161865

about

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans Progressive renal papillary calcification and ureteral stone formation in mice deficient for Tamm-Horsfall protein Congenital anomalies of the kidney and urinary tract: a genetic disorder?Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.Genetics of congenital anomalies of the kidney and urinary tract.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction.Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.

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P2860

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)

http://www.wikidata.org/entity/Q35161865

description

2008 nî lūn-bûn

@nan

2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

Mutation analysis of the Uromo ...... rinary tract anomalies (CAKUT)

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Mutation analysis of the Uromo ...... rinary tract anomalies (CAKUT)

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type

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Mutation analysis of the Uromo ...... rinary tract anomalies (CAKUT)

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Mutation analysis of the Uromo ...... rinary tract anomalies (CAKUT)

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Mutation analysis of the Uromo ...... rinary tract anomalies (CAKUT)

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Mutation analysis of the Uromo ...... rinary tract anomalies (CAKUT)

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Pediatric Nephrology

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Mutation analysis of the Uromo ...... rinary tract anomalies (CAKUT)

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Bernd Hoppe

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Bethan E Hoskins

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Bodo B Beck

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Friedhelm Hildebrandt

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Matthias T F Wolf

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Velibor Tasic

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P2860

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

SIX2 and BMP4 mutations associate with anomalous kidney development

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

Crucial roles of Brn1 in distal tubule formation and function in mouse kidney

How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT.

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

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