(Q84110104)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

1 reference

Aditi Sinha

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Sonika Sharma

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Ashima Gulati

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Alok Sharma

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Sandeep Agarwala

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Pankaj Hari

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Arvind Bagga

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

publication date

24 April 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

page(s)

2171-2174

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20419325%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00467-010-1518-x

1 February 2020

exact match

0 references

cites work

Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis

1 reference

12 December 2020

Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome

1 reference

12 December 2020

Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis.

1 reference

12 December 2020

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes

1 reference

12 December 2020

A girl with bilateral ovarian tumours: Frasier syndrome.

1 reference

12 December 2020

XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation

1 reference

12 December 2020

Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome.

1 reference

12 December 2020

The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A.

1 reference

12 December 2020

Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?

1 reference

12 December 2020

46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation

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

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.

1 reference

12 December 2020

WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.

1 reference

12 December 2020

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

1 reference

12 December 2020

Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with Frasier syndrome reveals gonadoblastoma and seminoma: a case report.

1 reference

12 December 2020

WT1 and glomerular diseases

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

Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and genetic findings of five patients with WT1-related disorders.

1 reference

12 December 2020

Frasier syndrome in a pre-menarchal girl: laparoscopic resection of gonadoblastoma

1 reference

12 December 2020

A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene

1 reference

12 December 2020

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

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

The major podocyte protein nephrin is transcriptionally activated by the Wilms' tumor suppressor WT1.

1 reference

12 December 2020

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

1 reference

12 December 2020