(Q44252486)

1 December 2017

A familial WT1 mutation associated with incomplete Denys-Drash syndrome (English)

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1 December 2017

Chunhua Zhu

1

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1 December 2017

Fei Zhao

2

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1 December 2017

Weizhen Zhang

3

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1 December 2017

Hongmei Wu

4

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1 December 2017

Ying Chen

5

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1 December 2017

Guixia Ding

6

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1 December 2017

Aihua Zhang

7

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1 December 2017

Songming Huang

8

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1 December 2017

language of work or name

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29 May 2013

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European Journal of Pediatrics

1 December 2017

1 reference

1 December 2017

172

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1 December 2017

10

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1 December 2017

1357-1362

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https://scigraph.springernature.com/pub.10.1007/s00431-013-2004-9

1 December 2017

0 references

cites work

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

The genomic organization and expression of the WT1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

A clinical overview of WT1 gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

21 January 2018

The Denys-Drash syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

WT1 and glomerular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

Familial Wilms tumour resulting from WT1 mutation: intronic polymorphism causing artefactual constitutional homozygosity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

Novel familial WT1 read-through mutation associated with Wilms tumor and slow progressive nephropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-013-2004-9

Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases

21 January 2018

1 reference

12 December 2020

Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome

1 reference

12 December 2020

The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases

1 reference

12 December 2020

WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion

1 reference

12 December 2020

A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome

1 reference

12 December 2020

A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys-Drash syndrome

1 reference

12 December 2020

Inherited WT1 mutation in Denys-Drash syndrome

1 reference

12 December 2020

Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling

1 reference

12 December 2020

Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism

1 reference

12 December 2020

The post-transcriptional roles of WT1, a multifunctional zinc-finger protein

1 reference

12 December 2020

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development

1 reference

12 December 2020

10.1007/S00431-013-2004-9

Identifiers

DOI

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1 December 2017

1 reference