(Q21202892)

22 June 2017

1 reference

25 April 2019

Neurofibromatosis type 2 (NF2): a clinical and molecular review (English)

1 reference

neurofibromatosis type II

22 June 2017

main subject

1 reference

25 April 2019

D Gareth R Evans

1

DGareth R

Evans

1 reference

Dimensions Publication ID

Dimensions

1017134341

18 August 2022

language of work or name

English

0 references

publication date

19 June 2009

6 references

Orphanet Journal of Rare Diseases

22 June 2017

19 March 2019

24 March 2019

3 April 2019

22 April 2019

25 April 2019

6 references

22 June 2017

19 March 2019

24 March 2019

3 April 2019

22 April 2019

25 April 2019

4

1 reference

22 June 2017

issue

1

0 references

page(s)

16

1 reference

Creative Commons Attribution 2.0 Generic

22 June 2017

copyright license

5 references

19 March 2019

24 March 2019

3 April 2019

22 April 2019

on focus list of Wikimedia project

25 April 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Magic but treatable? Tumours due to loss of merlin.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Management of the patient and family with neurofibromatosis 2: a consensus conference statement

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Spinal tumors in neurofibromatosis type 2. Is emerging knowledge of genotype predictive of natural history?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Clinical experience with gamma knife stereotactic radiosurgery in the management of vestibular schwannomas secondary to type 2 neurofibromatosis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Predictors of the risk of mortality in neurofibromatosis 2

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Paediatric presentation of type 2 neurofibromatosis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Mutational analysis of patients with neurofibromatosis 2

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Dissecting and targeting the growth factor-dependent and growth factor-independent extracellular signal-regulated kinase pathway in human schwannoma

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Neurofibromatosis 2, radiosurgery and malignant nervous system tumours

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Hearing preservation in neurofibromatosis type 2.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

The neuroimaging and clinical spectrum of neurofibromatosis 2.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Audiologic and radiographic response of NF2-related vestibular schwannoma to erlotinib therapy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

CpG island methylation in sporadic and neurofibromatis type 2-associated schwannomas.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Type 2 neurofibromatosis: the need for supraregional care?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

A clinical study of type 2 neurofibromatosis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708144

Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas

29 November 2018

1 reference

12 December 2020

Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype

1 reference

12 December 2020

Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis

1 reference

12 December 2020

Evaluation of clinical diagnostic criteria for neurofibromatosis 2

1 reference

12 December 2020

Stereotactic radiosurgery for type 2 neurofibromatosis acoustic neuromas: patient selection and tumour size

1 reference

12 December 2020

Genetic and epigenetic alteration of theNF2gene in sporadic meningiomas

1 reference

12 December 2020

Screening for large mutations of the NF2 gene

1 reference

12 December 2020

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings

1 reference

12 December 2020

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

1 reference

12 December 2020

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

1 reference

12 December 2020

Case of Tumours in the Skull, Dura Mater, and Brain

1 reference

12 December 2020

Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis

1 reference

12 December 2020

Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity

1 reference

12 December 2020

Vestibular (acoustic) schwannomas: histologic features in neurofibromatosis 2 and in unilateral cases

1 reference

12 December 2020

Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes

1 reference

12 December 2020

Phenotypic variability associated with 14 splice-site mutations in the NF2 gene

1 reference

12 December 2020

Multimodal assessment after surgery for cervical spondylotic myelopathy.

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-4-16

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1186/1750-1172-4-16

1 reference

Dimensions Publication ID

22 June 2017

1017134341

0 references

OpenCitations bibliographic resource ID

2427700

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2427700

1 reference