(Q33692509)

28 July 2017

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract (English)

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28 July 2017

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Neveen A Soliman

8

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Asaf Vivante

5

object named as

Asaf Vivante

1 reference

28 July 2017

10

Elijah O Kehinde

1 reference

28 July 2017

Daw-Yang Hwang

1

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28 July 2017

Gabriel C Dworschak

2

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28 July 2017

Stefan Kohl

3

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28 July 2017

Pawaree Saisawat

4

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28 July 2017

Alina C Hilger

6

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28 July 2017

Heiko M Reutter

7

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28 July 2017

Radovan Bogdanovic

9

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28 July 2017

Velibor Tasic

11

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28 July 2017

Friedhelm Hildebrandt

12

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28 July 2017

language of work or name

English

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publication date

15 January 2014

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28 July 2017

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28 July 2017

85

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28 July 2017

6

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28 July 2017

1429-1433

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https://scigraph.springernature.com/pub.10.1038/ki.2013.508

28 July 2017

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cites work

Mutations in DSTYK and dominant urinary tract malformations

1 reference

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TNXB mutations can cause vesicoureteral reflux

21 June 2018

1 reference

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Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

21 June 2018

1 reference

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Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Copy-number disorders are a common cause of congenital kidney malformations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Carrier testing for severe childhood recessive diseases by next-generation sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Genetics of congenital anomalies of the kidney and urinary tract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

21 June 2018

Genetic kidney diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Genetic and developmental basis for urinary tract obstruction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

SIX2 and BMP4 mutations associate with anomalous kidney development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Renal aplasia in humans is associated with RET mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Renal abnormalities and their developmental origin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

The cellular basis of kidney development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

GATA3 haplo-insufficiency causes human HDR syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

Dominantly inherited renal adysplasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040148

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

30 October 2018

1 reference

12 December 2020

Familial nature of congenital absence and severe dysgenesis of both kidneys

1 reference

12 December 2020

De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure

1 reference

12 December 2020

Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias

1 reference

12 December 2020

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FKI.2013.508

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/KI.2013.508

1 reference

Dimensions Publication ID

28 July 2017

1047331625

0 references

Fatcat ID

release_3yp4eqmljfhtbgbbyilnzdnotu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3yp4eqmljfhtbgbbyilnzdnotu

24 November 2022

mapped directly with Wikidata item

PMCID

4040148

1 reference

28 July 2017

1 reference