(Q30495336)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas (English)

1 reference

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8 November 2019

10

1 reference

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8 November 2019

Graeme Black

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

A Mohyuddin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

W J Neary

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A Wallace

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

C L Wu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

S Purcell

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

H Reid

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

R T Ramsden

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A Read

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

language of work or name

English

0 references

publication date

1 May 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

8 November 2019

published in

1 reference

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8 November 2019

volume

39

1 reference

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8 November 2019

issue

5

1 reference

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8 November 2019

page(s)

315-322

1 reference

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Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma

8 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

A Gene Map of the Human Genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

Exon scanning for mutation of the NF2 gene in schwannomas.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

Mutational analysis of patients with neurofibromatosis 2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

Highly polymorphic dinucleotide repeat at the NF2 gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

The 1993-94 Généthon human genetic linkage map

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

Neurofibromatosis 2 (bilateral acoustic neurofibromatosis).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

A second-generation linkage map of the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

NF2 gene in neurofibromatosis type 2 patients.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

Mosaicism in sporadic neurofibromatosis 2 patients.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

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=1735110

Magnetic resonance imaging: a cost-effective first line investigation in the detection of vestibular schwannomas.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735110

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=1735110

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=1735110

Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment

26 November 2018

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the D22S268 locus

1 reference

12 December 2020

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.39.5.315

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

release_3xzhrdad7fdgtpkxo4vopxx6ta

8 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3xzhrdad7fdgtpkxo4vopxx6ta

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12011146%20AND%20SRC:MED&resulttype=core&format=json