(Q35836708)

10 August 2017

A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism (English)

1 reference

subependymal giant cell astrocytoma

10 August 2017

1 reference

Tomotsugu Ichikawa

1

1 reference

10 August 2017

Akiko Wakisaka

2

1 reference

10 August 2017

Shigeru Daido

3

1 reference

10 August 2017

Soichiro Takao

4

1 reference

10 August 2017

Takashi Tamiya

5

1 reference

10 August 2017

Isao Date

6

1 reference

10 August 2017

Shoichi Koizumi

7

1 reference

10 August 2017

Yo Niida

8

1 reference

10 August 2017

1 October 2005

1 reference

The Journal of Molecular Diagnostics

10 August 2017

1 reference

10 August 2017

7

1 reference

10 August 2017

544-549

1 reference

10 August 2017

4

1 reference

Neonatal subependymal giant cell astrocytoma

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

High rate of mosaicism in tuberous sclerosis complex

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Germ-line mosaicism in tuberous sclerosis: how common?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Identification and characterization of the tuberous sclerosis gene on chromosome 16

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Recurrent subependymal giant-cell astrocytoma in the absence of tuberous sclerosis. Case report

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Sudden death in epilepsy due to an isolated subependymal giant cell astrocytoma of the septum pellucidum.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Subependymal giant cell astrocytoma with positive tuberin expression--case report

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Rapid regrowth of solitary subependymal giant cell astrocytoma--case report.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

Solitary subependymal giant cell astrocytoma: case report.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888498

High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination

24 September 2018

1 reference

12 December 2020

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

1 reference

12 December 2020

Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis

1 reference

12 December 2020

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene

1 reference

12 December 2020

Unilateral multiple facial angiofibromas: a mosaic form of tuberous sclerosis

1 reference

12 December 2020

Somatic mutations are frequent and increase with age in human kidney epithelial cells

1 reference

12 December 2020

10.1016/S1525-1578(10)60586-7

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

1 reference