(Q80287223)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983642%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

meta-analysis

0 references

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983642%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

Iris Ahronowitz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983642%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Winnie Xin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983642%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Rosemary Kiely

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983642%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Katherine Sims

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983642%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Mia MacCollin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983642%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Fabio P Nunes

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983642%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

publication date

1 January 2007

1 reference

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30 December 2019

1 reference

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30 December 2019

volume

28

1 reference

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30 December 2019

issue

1

1 reference

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30 December 2019

page(s)

1-12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983642%20AND%20SRC:MED&resulttype=core&format=json

Unilateral vestibular schwannoma with other neurofibromatosis type 2-related tumors: clinical and molecular study of a unique phenotype

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Evaluation of clinical diagnostic criteria for neurofibromatosis 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Predictors of vestibular schwannoma growth in patients with neurofibromatosis Type 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Molecular genetics alterations and tumor behavior of sporadic vestibular schwannoma from the People's Republic of China.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

High frequency of inactivating mutations in the neurofibromatosis type 2 gene (NF2) in primary malignant mesotheliomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Eleven novel mutations in the NF2 tumour suppressor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

The mouse homologue of the neurofibromatosis type 2 gene is highly conserved

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20393

1 reference

7 January 2021

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Expression of the neurofibromatosis type 2 gene in human tissues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Molecular genetic analysis of ependymal tumors. NF2 mutations and chromosome 22q loss occur preferentially in intramedullary spinal ependymomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Molecular alterations in the neurofibromatosis type 2 gene and its protein rarely occurring in meningothelial meningiomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Multiple meningiomas: differential involvement of the NF2 gene in children and adults

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Allelic loss of 14q and 22q, NF2 mutation, and genetic instability occur independently of c-kit mutation in gastrointestinal stromal tumor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Isolation and characterization of an aggresome determinant in the NF2 tumor suppressor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Functional analysis of neurofibromatosis 2 (NF2) missense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Strong conservation of the human NF2 locus based on sequence comparison in five species.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Multiple meningiomas: Investigating the molecular basis of sporadic and familial forms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Neurofibromatosis 2 phenotypes and germ-line NF2 mutations determined by an RNA mismatch method and loss of heterozygosity analysis in NF2 schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Comparative genomic hybridization and mutation analyses of sporadic schwannomas.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

A haplotype map of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Exon scanning for mutation of the NF2 gene in schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Frequency and distribution of NF2 mutations in schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Comparative analysis of the NF2, TP53, PTEN, KRAS, NRAS and HRAS genes in sporadic and radiation-induced human meningiomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Somatic Instability of the NF2 Gene in Schwannomatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Hybrid peripheral nerve sheath tumors: Schwannoma-perineurioma and neurofibroma-perineurioma. A report of three cases in extradigital locations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Mosaicism in sporadic neurofibromatosis 2 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

The parental origin of new mutations in neurofibromatosis 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Screening for large mutations of the NF2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Nucleocytoplasmic transfer of the NF2 tumor suppressor protein merlin is regulated by exon 2 and a CRM1-dependent nuclear export signal in exon 15.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

NF2 status of meningiomas is associated with tumour localization and histology.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Molecular genetic alterations on chromosomes 11 and 22 in ependymomas.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

The neurofibromatosis type 2 gene is mutated in perineurial cell tumors: a molecular genetic study of eight cases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20393

1 reference

7 January 2021

Multiple unilateral schwannomas: segmental neurofibromatosis type 2 or schwannomatosis?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Genetic and epigenetic alteration of theNF2gene in sporadic meningiomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

The neuroimaging and clinical spectrum of neurofibromatosis 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Familial meningioma: analysis of expression of neurofibromatosis 2 protein Merlin. Report of two cases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Membrane organization and tumorigenesis--the NF2 tumor suppressor, Merlin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20393

1 reference

7 January 2021

Predominant occurrence of somatic mutations of theNF2 gene in meningiomas and schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Incidental meningiomas in autopsy study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Combined molecular genetic studies of chromosome 22q and the neurofibromatosis type 2 gene in central nervous system tumors.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Rapid and sensitive sequence comparison with FASTP and FASTA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Homozygous deletion scanning in hepatobiliary tumor cell lines reveals alternative pathways for liver carcinogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Familial meningioma is not allelic to neurofibromatosis 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Neurofibromatosis 2 gene in human colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Effects of Nf2 missense mutations on schwannomin interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Molecular genotyping of medullary thyroid carcinoma can predict tumor recurrence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Clonality of multiple meningiomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

What is the real incidence of vestibular schwannoma?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Clonal origin of recurrent meningiomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Analysis of the human neurofibromatosis type 2 gene promoter and its expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Low incidence of a nucleotide sequence alteration of the neurofibromatosis 2 gene in human breast cancers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

NF2 gene in neurofibromatosis type 2 patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20393

7 January 2021

Identifiers

DOI

10.1002/HUMU.20393

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16983642%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference