(Q34449327)

2 August 2017

Donor splice-site mutations in WT1 are responsible for Frasier syndrome (English)

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ORCID Public Data File 2021

2 August 2017

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author name string

Barbaux S

1

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2 August 2017

Niaudet P

2

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2 August 2017

Gubler MC

3

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2 August 2017

Grünfeld JP

4

1 reference

2 August 2017

Jaubert F

5

1 reference

2 August 2017

Kuttenn F

6

1 reference

2 August 2017

Fékété CN

7

1 reference

2 August 2017

Souleyreau-Therville N

8

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2 August 2017

Thibaud E

9

1 reference

2 August 2017

Fellous M

10

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2 August 2017

McElreavey K

11

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2 August 2017

language of work or name

English

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publication date

1 December 1997

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2 August 2017

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2 August 2017

17

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2 August 2017

467-470

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2 August 2017

4

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https://scigraph.springernature.com/pub.10.1038/ng1297-467

2 August 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome).

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome--proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

A clinical overview of WT1 gene mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

The candidate Wilms' tumour gene is involved in genitourinary development

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

An RNA recognition motif in Wilms' tumour protein (WT1) revealed by structural modelling.

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Alternative splicing and genomic structure of the Wilms tumor gene WT1

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

WT-1 is required for early kidney development

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Distinct molecular origins for Denys-Drash and Frasier syndromes

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Further evidence that imbalance of WT1 isoforms may be involved in Denys – Drash syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Differential function of Wilms' tumor gene WT1 splice isoforms in transcriptional regulation

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Modulation of DNA binding specificity by alternative splicing of the Wilms tumor wt1 gene transcript

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-467

7 January 2021

Identifiers

DOI

10.1038/NG1297-467

1 reference

Dimensions Publication ID

2 August 2017

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1 reference