(Q38115209)

29 August 2017

title

Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again (English)

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29 August 2017

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William David Foulkes

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29 August 2017

Martin Hasselblatt

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Stefan Schönberger

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Leora Witkowski

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29 August 2017

Emilie Lalonde

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29 August 2017

Jian Zhang

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29 August 2017

Steffen Albrecht

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29 August 2017

Nancy Hamel

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29 August 2017

Luca Cavallone

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29 August 2017

Sandra Thompson May

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29 August 2017

James C Nicholson

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29 August 2017

Nicholas Coleman

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29 August 2017

Matthew J Murray

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29 August 2017

Peter F Tauber

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29 August 2017

David G Huntsman

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29 August 2017

David Yandell

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29 August 2017

Marc D Tischkowitz

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29 August 2017

Jacek Majewski

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29 August 2017

publication date

1 September 2013

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29 August 2017

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29 August 2017

volume

231

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29 August 2017

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29 August 2017

page(s)

35-43

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

29 August 2017

cites work

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

21 January 2018

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

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Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

21 January 2018

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COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

21 January 2018

1 reference

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

21 January 2018

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Advanced malignant rhabdoid tumor of the ovary effectively responding to chemotherapy: a case report and review of the literature

21 January 2018

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

21 January 2018

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Diverse functions of ATP-dependent chromatin remodeling complexes in development and cancer

21 January 2018

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Aberrant expression of SWI/SNF catalytic subunits BRG1/BRM is associated with tumor development and increased invasiveness in prostate cancers

21 January 2018

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SWI/SNF nucleosome remodellers and cancer.

21 January 2018

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Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer

21 January 2018

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Decreased expression of the ARID1A gene is associated with poor prognosis in primary gastric cancer

21 January 2018

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Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer

21 January 2018

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Functional analysis of in-frame indel ARID1A mutations reveals new regulatory mechanisms of its tumor suppressor functions

21 January 2018

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Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

21 January 2018

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An integrated genomic approach identifies ARID1A as a candidate tumor-suppressor gene in breast cancer

21 January 2018

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Identification of a core member of the SWI/SNF complex, BAF155/SMARCC1, as a human tumor suppressor gene

21 January 2018

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Dissecting the genomic complexity underlying medulloblastoma

21 January 2018

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Epigenetic regulation of human embryonic stem cells

21 January 2018

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A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers

21 January 2018

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Targeted therapies: how personal should we go?

21 January 2018

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Comprehensive molecular portraits of human breast tumours

21 January 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient

21 January 2018

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Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

21 January 2018

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Nonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) Expression

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PATH.4225

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29 August 2017

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