Expanding the clinical spectrum of Frasier syndrome. (Q51759917)

11 April 2018

title

Expanding the clinical spectrum of Frasier syndrome. (English)

1 reference

11 April 2018

Miguel Reyes-Múgica

6

1 reference

ORCID Public Data File 2021

author name string

Katja Gwin

1

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11 April 2018

Mariana M Cajaiba

2

1 reference

11 April 2018

Alejandra Caminoa-Lizarralde

3

1 reference

11 April 2018

Maria L Picazo

4

1 reference

11 April 2018

Manuel Nistal

5

1 reference

11 April 2018

publication date

22 March 2007

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11 April 2018

Pediatric and Developmental Pathology

published in

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11 April 2018

volume

11

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11 April 2018

issue

2

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11 April 2018

page(s)

122-127

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11 April 2018

GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.

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

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

21 January 2018

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Frasier syndrome comes full circle: genetic studies performed in an original patient.

21 January 2018

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

21 January 2018

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WT1 proteins: functions in growth and differentiation

21 January 2018

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

21 January 2018

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Alternative splicing and genomic structure of the Wilms tumor gene WT1

21 January 2018

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One tissue, two fates: molecular genetic events that underlie testis versus ovary development

21 January 2018

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Wilms' tumour: connecting tumorigenesis and organ development in the kidney

21 January 2018

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Gonadoblastoma. A review of 74 cases

21 January 2018

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Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY.

21 January 2018

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Constitutional WT1 correlate with clinical features in children with progressive nephropathy

21 January 2018

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Posttransplant Recurrence of Proteinuria in a Case of Focal Segmental Glomerulosclerosis Associated with WT1 Mutation

21 January 2018

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21 January 2018

Identifiers

DOI

10.2350/07-01-0209.1

1 reference

11 April 2018

release_olwkzb7xt5bu7mbjrydwye4rx4

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/olwkzb7xt5bu7mbjrydwye4rx4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

17378674

1 reference

11 April 2018