(Q75340238)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14745636%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

title

Slow progressive FSGS associated with an F392L WT1 mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14745636%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

author

Arvydas Laurinavicius

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14745636%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Brigitte Royer-Pokora

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14745636%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

author name string

Petras Kaltenis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14745636%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Valérie Schumacher

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14745636%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Augustina Jankauskiene

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14745636%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

publication date

27 January 2004

1 reference

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17 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14745636%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

volume

19

1 reference

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17 November 2019

issue

3

1 reference

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17 November 2019

page(s)

353-356

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00467-003-1372-1

17 November 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical spectrum of Denys-Drash and Frasier syndrome

1 reference

12 December 2020

Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.

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

Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology

1 reference

12 December 2020

Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?

1 reference

12 December 2020

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

1 reference

12 December 2020

The WT1 Wilms tumor gene product: a developmentally regulated transcription factor in the kidney that functions as a tumor suppressor

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.

1 reference

12 December 2020

Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome

1 reference

12 December 2020