Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study (Q24302641)

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30 December 2019

title

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

1 reference

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Spalt like transcription factor 1

30 December 2019

main subject

1 reference

GOA release 2020-03-11

kidney development

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GOA release 2020-03-11

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2

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30 December 2019

Gian Marco Ghiggeri

6

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30 December 2019

Giovanni Montini

9

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30 December 2019

Corinne Antignac

14

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30 December 2019

12

Aleksandra M Zurowska

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30 December 2019

author name string

Stefanie Weber

1

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Tanja Knüppel

3

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Marina Charbit

4

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30 December 2019

Jirí Dusek

5

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Augustina Jankauskiené

7

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Sevgi Mir

8

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Amira Peco-Antic

10

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Elke Wühl

11

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Otto Mehls

13

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Franz Schaefer

15

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30 December 2019

Remi Salomon

16

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30 December 2019

language of work or name

English

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publication date

13 September 2006

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Journal of the American Society of Nephrology

30 December 2019

published in

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30 December 2019

volume

17

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30 December 2019

page(s)

2864-2870

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30 December 2019

issue

10

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Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

30 December 2019

cites work

1 reference

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7 January 2021

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

1 reference

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7 January 2021

Randomised multicentre study of a low-protein diet on the progression of chronic renal failure in children. European Study Group of Nutritional Treatment of Chronic Renal Failure in Childhood

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7 January 2021

Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis.

1 reference

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7 January 2021

Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

The molecular control of renal branching morphogenesis: current knowledge and emerging insights

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7 January 2021

A molecular and genetic view of human renal and urinary tract malformations.

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7 January 2021

Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta

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7 January 2021

PAX2 mutations in oligomeganephronia.

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Evolving concepts in human renal dysplasia

1 reference

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7 January 2021

Antihypertensive and antiproteinuric efficacy of ramipril in children with chronic renal failure

1 reference

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7 January 2021

Essential roles of Sall1 in kidney development

1 reference

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7 January 2021

Six1 is required for the early organogenesis of mammalian kidney

1 reference

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7 January 2021

Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

1 reference

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7 January 2021

Identifiers

DOI

10.1681/ASN.2006030277

2 references

Consolidated OpenCitations Corpus – April 2017

1394745

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30 December 2019

1394745

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1394745