Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas (Q30495358)

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7 December 2019

title

Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas (English)

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7 December 2019

8

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7 December 2019

Graeme Black

4

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7 December 2019

author name string

C L Wu

1

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7 December 2019

N Thakker

2

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7 December 2019

W Neary

3

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7 December 2019

R Lye

5

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7 December 2019

R T Ramsden

6

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7 December 2019

A P Read

7

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7 December 2019

language of work or name

English

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publication date

1 December 1998

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Journal of Medical Genetics

7 December 2019

published in

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volume

35

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7 December 2019

issue

12

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7 December 2019

page(s)

973-977

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

7 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Exon scanning for mutation of the NF2 gene in schwannomas

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Mutational analysis of patients with neurofibromatosis 2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Highly polymorphic dinucleotide repeat at the NF2 gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

The 1993-94 Généthon human genetic linkage map

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Mutation and cancer: statistical study of retinoblastoma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Patterns of risk of hereditary retinoblastoma and applications to genetic counselling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Type 2 neurofibromatosis: the need for supraregional care?

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Screening for germ-line mutations in the NF2 gene

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Epidemiology of acoustic neuromas.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

A clinical study of type 2 neurofibromatosis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051506

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

26 November 2018

1 reference

12 December 2020

Loss of heterozygosity of chromosome 8 microsatellite loci implicates a candidate tumor suppressor gene between the loci D8S87 and D8S133 in human prostate cancer

1 reference

12 December 2020

Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma of the oral cavity

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1136/JMG.35.12.973

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863591 AND SRC:MED&resulttype=core&format=json

7 December 2019

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7 December 2019

PubMed publication ID

9863591

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