(Q36614782)

15 August 2017

Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome (English)

1 reference

15 August 2017

4

1 reference

15 August 2017

A C J Ammerlaan

1

1 reference

15 August 2017

A Ararou

2

1 reference

15 August 2017

M P W A Houben

3

1 reference

15 August 2017

C C Tijssen

5

1 reference

15 August 2017

J L J M Teepen

6

1 reference

15 August 2017

P Wesseling

7

1 reference

15 August 2017

T J M Hulsebos

8

1 reference

15 August 2017

language of work or name

English

0 references

publication date

18 December 2007

1 reference

British Journal of Cancer

15 August 2017

1 reference

15 August 2017

98

1 reference

15 August 2017

2

1 reference

15 August 2017

474-479

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.bjc.6604156

15 August 2017

0 references

cites work

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: Lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Atypical teratoid/rhabdoid tumor: the controversy behind radiation therapy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Familial intracranial ependymomas. Report of three cases in a family and review of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Molecular genetics of atypical teratoid/rhabdoid tumor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

The therapy of infantile malignant brain tumors: current status?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Atypical teratoid/rhabdoid tumors (ATRT): improved survival in children 3 years of age and older with radiation therapy and high-dose alkylator-based chemotherapy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

High frequency of alternative splicing of human genes participating in the HIV-1 life cycle: a model using TSG101, betaTrCP, PPIA, INI1, NAF1, and PML

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Familial schwannomatosis: exclusion of the NF2 locus as the germline event

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Diversity and specialization of mammalian SWI/SNF complexes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Human homolog of patched, a candidate gene for the basal cell nevus syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Familial anaplastic ependymoma: evidence of loss of chromosome 22 in tumour cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Characterisation of 16 polymorphic markers in the NF2 gene: application to hemizygosity detection

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Clonality analysis of pediatric multiple tumors: two case reports and laboratory investigation.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Novel germ-line deletion of SNF5/INI1/SMARCB1 gene in neonate presenting with congenital malignant rhabdoid tumor of kidney and brain primitive neuroectodermal tumor

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Indications for a tumor suppressor gene at 22q11 involved in the pathogenesis of ependymal tumors and distinct from hSNF5/INI1.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

Molecular analysis of genetic changes in ependymomas.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2361463

High Frequency of Alternative Splicing of Human Genes Participating in the HIV-1 Life Cycle

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FSJ.BJC.6604156

INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma

21 January 2018

1 reference

12 December 2020

Mutations of the hSNF5/INI1 Gene in Renal Rhabdoid Tumors With Second Primary Brain Tumors

1 reference

12 December 2020

Mutational analysis of INI1 in sporadic human brain tumors

1 reference

12 December 2020

Relative paucity of gross genetic alterations in myoepitheliomas and myoepithelial carcinomas of salivary glands

1 reference

12 December 2020

Identifiers

DOI

10.1038/SJ.BJC.6604156

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

18087273

1 reference