Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors (Q34915348)

5 August 2017

title

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors (English)

1 reference

5 August 2017

Katherine W Eaton

1

1 reference

5 August 2017

Laura S Tooke

2

1 reference

5 August 2017

Luanne M Wainwright

3

1 reference

5 August 2017

Alexander R Judkins

4

1 reference

5 August 2017

Jaclyn A Biegel

5

1 reference

5 August 2017

publication date

1 January 2011

1 reference

5 August 2017

published in

Pediatric Blood Cancer

1 reference

5 August 2017

volume

56

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5 August 2017

issue

1

1 reference

5 August 2017

page(s)

7-15

1 reference

Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome

8 July 2018

1 reference

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Constitutional retinoblastoma gene deletion in Egyptian patients.

8 July 2018

1 reference

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The role of SMARCB1/INI1 in development of rhabdoid tumor.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

The SWI/SNF complex and cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Small cell undifferentiated variant of hepatoblastoma: adverse clinical and molecular features similar to rhabdoid tumors

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Gonadal mosaicism and familial adenomatous polyposis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Parental origin of germ-line and somatic mutations in the retinoblastoma gene.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FPBC.22831

Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FPBC.22831

Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

SMARCB1/INI1maternal germ line mosaicism in schwannomatosis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3086793

Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21108436

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21108436

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/PBC.22831

1 reference

5 August 2017

1 reference

5 August 2017

1 reference