(Q54958675)

English

Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.

scientific article

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scholarly article

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/5880256

Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma. (English)

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/5880256

corrigendum / erratum

Erratum: Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.

0 references

Ebrahim Afyounian

3

1 reference

Europe PubMed Central

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9 June 2020

10

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9 June 2020

author name string

Kristiina Nordfors

1

1 reference

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9 June 2020

Joonas Haapasalo

2

1 reference

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9 June 2020

Joonas Tuominen

4

1 reference

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9 June 2020

Matti Annala

5

1 reference

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9 June 2020

Sergei Häyrynen

6

1 reference

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9 June 2020

Ritva Karhu

7

1 reference

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9 June 2020

Pauli Helén

8

1 reference

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9 June 2020

Olli Lohi

9

1 reference

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9 June 2020

Hannu Haapasalo

11

1 reference

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9 June 2020

Kirsi J Granberg

12

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9 June 2020

publication date

2 April 2018

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/5880256

Cold Spring Harbor molecular case studies

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29602769%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

4

1 reference

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9 June 2020

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29602769%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Inherited TP53 Mutations and the Li-Fraumeni Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Assessment of the treatment approach and survival outcomes in a modern cohort of patients with atypical teratoid rhabdoid tumors using the National Cancer Database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

The Role of ATRX in the Alternative Lengthening of Telomeres (ALT) Phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

World Health Organization grade II-III astrocytomas consist of genetically distinct tumor lineages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Loss of KLF14 triggers centrosome amplification and tumorigenesis

1 reference

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14 June 2018

Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas

1 reference

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14 June 2018

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Polysialic acid is associated with better prognosis and IDH1-mutation in diffusely infiltrating astrocytomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

ATP-dependent chromatin remodeling complexes as novel targets for cancer therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

SAMBLASTER: fast duplicate marking and structural variant read extraction

1 reference

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14 June 2018

ATRX mRNA expression combined with IDH1/2 mutational status and Ki-67 expression refines the molecular classification of astrocytic tumors: evidence from the whole transcriptome sequencing of 169 samples samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Krüppel-like factors in cancer

1 reference

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14 June 2018

Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Nek4 regulates entry into replicative senescence and the response to DNA damage in human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Molecular pathogenesis of IDH mutations in gliomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Fast gapped-read alignment with Bowtie 2

1 reference

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14 June 2018

Kaviar: an accessible system for testing SNV novelty

1 reference

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14 June 2018

Li-fraumeni syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Tumor-suppressor activity of RRIG1 in breast cancer

1 reference

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14 June 2018

A map of human genome variation from population-scale sequencing

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14 June 2018

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

1 reference

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14 June 2018

Identification of DOK genes as lung tumor suppressors

1 reference

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14 June 2018

BEDTools: a flexible suite of utilities for comparing genomic features

1 reference

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14 June 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

IDH1 and IDH2 mutations in gliomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

The 2007 WHO classification of tumours of the central nervous system

1 reference

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14 June 2018

The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website

1 reference

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14 June 2018

A p53-dependent checkpoint pathway prevents rereplication

1 reference

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14 June 2018

dbSNP: the NCBI database of genetic variation

1 reference

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14 June 2018

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880256

14 June 2018

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

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14 June 2018

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

1 reference

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14 June 2018

Inherited p53 gene mutations in breast cancer

1 reference

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14 June 2018

Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma

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14 June 2018

Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma

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14 June 2018

Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers.

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16 June 2018

Reduced expression of mismatch repair genes measured by multiplex reverse transcription-polymerase chain reaction in human gliomas.

1 reference

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3 July 2018

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes.

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13 August 2018

ALTernative Telomere Maintenance and Cancer.

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13 August 2018

[Diagnosis and prognosis of gliomas--current prospects of molecular diagnostics].

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13 August 2018

Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas.

1 reference

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13 August 2018

DNA repair polymorphisms XRCC1 and MGMT and risk of adult gliomas

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13 August 2018

Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1.

1 reference

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13 August 2018

XRCC1 and XRCC3 variants and risk of glioma and meningioma

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1101/MCS.A002246

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29602769%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29602769%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29602769%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

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