(Q24534231)

5 July 2017

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

1 reference

5 July 2017

6

O Delattre

1 reference

5 July 2017

N Sévenet

1

1 reference

5 July 2017

E Sheridan

2

1 reference

5 July 2017

D Amram

3

1 reference

5 July 2017

P Schneider

4

1 reference

5 July 2017

R Handgretinger

5

1 reference

5 July 2017

language of work or name

English

0 references

publication date

1 November 1999

1 reference

American Journal of Human Genetics

5 July 2017

1 reference

5 July 2017

65

1 reference

5 July 2017

1342-1348

1 reference

5 July 2017

5

1 reference

Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine

5 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Parent-of-origin effects in multiple endocrine neoplasia type 2B

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

A human protein with homology to Saccharomyces cerevisiae SNF5 interacts with the potential helicase hbrm

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group study

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

24 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

A comprehensive genetic map of the human genome based on 5,264 microsatellites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Histopathology and prognosis of Wilms tumorResults from the first national wilms' tumor study

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Transcriptional regulation: SWItching circuitry

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Solitary choroid plexus metastasis from a renal cell carcinoma

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Single solitary metastasis of the slowly progressive type of renal cell carcinoma to the choroid plexus--case report

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Li-Fraumeni syndrome--a molecular and clinical review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Tumors associated with p53 germline mutations: a synopsis of 91 families.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Hereditary cancer: two hits revisited

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Multiple primary cancers in families with Li-Fraumeni syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

The association of embryonal tumors originating in the kidney and in the brain. A report of seven cases.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Malignant rhabdoid tumor: a highly malignant childhood tumor with minimal karyotypic changes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Familial medulloblastoma in siblings: report in one family and review of the literature

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Identical twins with medulloblastoma occurring in infancy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Familial medulloblastoma.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

Preferential germline mutation of the paternal allele in retinoblastoma

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288286

The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy

29 November 2018

1 reference

12 December 2020

Rhabdoid tumor of the kidney with primitive neuroectodermal tumor of the central nervous system: associated tumors with different histologic, cytogenetic, and molecular findings

1 reference

12 December 2020

Narrowing the critical region for a rhabdoid tumor locus in 22q11

1 reference

12 December 2020

Loss of heterozygosity at chromosome regions 22q11-12 and 11p15.5 in renal rhabdoid tumors

1 reference

12 December 2020

Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22

1 reference

12 December 2020

Rhabdoid tumor of the kidney with primitive neuroectodermal tumor of the central nervous system

1 reference

12 December 2020

Paravertebral malignant rhabdoid tumor in infancy. In vitro studies of a familial tumor

1 reference

12 December 2020

Parental origin of mutations of the retinoblastoma gene

1 reference

12 December 2020

Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302639

7 January 2021

inferred from DOI database lookup

Identifiers

1 reference

https://api.fatcat.wiki/v0/release/cnts2srbfnhj5lpv2bcaqhcubu

30 July 2022

release_cnts2srbfnhj5lpv2bcaqhcubu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cnts2srbfnhj5lpv2bcaqhcubu

30 July 2022

https://api.fatcat.wiki/v0/release/cnts2srbfnhj5lpv2bcaqhcubu

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/cnts2srbfnhj5lpv2bcaqhcubu

1 reference

30 July 2022