(Q57266550)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22434358%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

title

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis (English)

1 reference

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26 January 2020

1

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26 January 2020

Rosalie Ferner

7

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26 January 2020

Gareth Evans

8

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26 January 2020

author name string

Andrew J Wallace

2

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26 January 2020

Naomi L Bowers

3

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26 January 2020

Cecilie F Rustad

4

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26 January 2020

C Geoff Woods

5

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26 January 2020

Guy D Leschziner

6

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26 January 2020

publication date

22 March 2012

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26 January 2020

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26 January 2020

volume

13

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26 January 2020

issue

2

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26 January 2020

page(s)

141-145

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https://scigraph.springernature.com/pub.10.1007/s10048-012-0319-8

26 January 2020

exact match

0 references

cites work

Diagnostic criteria for schwannomatosis

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

SMARCB1 mutations are not a common cause of multiple meningiomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

INI1 mutations in meningiomas at a potential hotspot in exon 9

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Increasing the specificity of diagnostic criteria for schwannomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0319-8

A clinical study of type 2 neurofibromatosis

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

1 reference

12 December 2020

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

1 reference

12 December 2020

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri

1 reference

12 December 2020

Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation

1 reference

12 December 2020

10.1007/S10048-012-0319-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22434358%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

1 reference