(Q34786042)

4 August 2017

title

Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor (English)

1 reference

4 August 2017

0 references

1 reference

George Toth

1

1 reference

4 August 2017

Claudia B Zraly

2

1 reference

4 August 2017

Tricia L Thomson

3

1 reference

4 August 2017

Carolyn Jones

4

1 reference

4 August 2017

Shawn Lapetino

5

1 reference

4 August 2017

Jonathan Muraskas

6

1 reference

4 August 2017

Jiwang Zhang

7

1 reference

4 August 2017

Andrew K Dingwall

8

1 reference

4 August 2017

language of work or name

1 reference

15 March 2011

1 reference

Genes, Chromosomes and Cancer

4 August 2017

published in

1 reference

4 August 2017

volume

50

1 reference

4 August 2017

issue

6

1 reference

4 August 2017

page(s)

379-388

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Molecular diagnostics of CNS embryonal tumors

4 August 2017

cites work

1 reference

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Myc suppression of Nfkb2 accelerates lymphomagenesis

8 July 2018

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Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

8 July 2018

1 reference

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MYC in oncogenesis and as a target for cancer therapies

8 July 2018

1 reference

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Psychotic features as the first manifestation of 22q11.2 deletion syndrome

8 July 2018

1 reference

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Rhabdoid tumor: gene expression clues to pathogenesis and potential therapeutic targets

8 July 2018

1 reference

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Loss of protein kinase C delta gene expression in human squamous cell carcinomas: a laser capture microdissection study

8 July 2018

1 reference

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High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system

8 July 2018

1 reference

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

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=3075385

8 July 2018

1 reference

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Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

TAK1 is required for the survival of hematopoietic cells and hepatocytes in mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Claudin-6 localized in tight junctions of rat podocytes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Trastuzumab activates allogeneic or autologous antibody-dependent cellular cytotoxicity against malignant rhabdoid tumor cells and interleukin-2 augments the cytotoxicity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Extracranial malignant rhabdoid tumors in childhood: the Childrens Hospital Los Angeles experience

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

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=3075385

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=3075385

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Claudins 6, 9, and 13 are developmentally expressed renal tight junction proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Myc target transcriptomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Molecular genetics of atypical teratoid/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=3075385

The c-myc gene is a direct target of mammalian SWI/SNF-related complexes during differentiation-associated cell cycle arrest

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Genome architecture, rearrangements and genomic disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

The 22q11 deletion syndromes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

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=3075385

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

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=3075385

A population study of chromosome 22q11 deletions in infancy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Claudin 6 is a positive marker for atypical teratoid/rhabdoid tumors

8 July 2018

1 reference

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.

21 January 2018

1 reference

Knock down of hSNF5/Ini1 causes cell cycle arrest and apoptosis in a p53-dependent manner.

21 January 2018

1 reference

Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6.

21 January 2018

1 reference

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

21 January 2018

1 reference

Chromosomal imbalances detected by comparative genomic hybridisation in atypical teratoid/rhabdoid tumours

21 January 2018

1 reference

Rhabdoid tumor of the kidney in the National Wilms' Tumor Study: age at diagnosis as a prognostic factor.

21 January 2018

1 reference

Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075385

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney

26 October 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

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

1 reference

12 December 2020

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1002/GCC.20862

1 reference

release_tpw54zq3znfthfotg7vqsc3qvy

4 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tpw54zq3znfthfotg7vqsc3qvy

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3075385

1 reference

4 August 2017

1 reference