Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease (Q30502816)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755919%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

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

1 reference

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neurofibromatosis type II

18 October 2019

main subject

1 reference

18

Rouleau GA

2 references

10 August 2017

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7

Rangaratnam S

1 reference

18 October 2019

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Ruttledge MH

1

1 reference

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18 October 2019

Andermann AA

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18 October 2019

Phelan CM

3

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18 October 2019

Claudio JO

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Han FY

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Chretien N

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MacCollin M

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Short P

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Parry D

10

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Michels V

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18 October 2019

Riccardi VM

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Weksberg R

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Kitamura K

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Bradburn JM

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Hall BD

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Propping P

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18 October 2019

language of work or name

English

0 references

publication date

1 August 1996

1 reference

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American Journal of Human Genetics

18 October 2019

published in

1 reference

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volume

59

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issue

2

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page(s)

331-342

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

18 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

Physical mapping of the NF2/meningioma region on human chromosome 22q12.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

Neurofibromatosis 2 (bilateral acoustic neurofibromatosis).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

Neurofibromatosis type 2 appears to be a genetically homogeneous disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914741

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=1914741

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

26 November 2018

1 reference

12 December 2020

Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts but absence of Lisch nodules

1 reference

12 December 2020

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

1 reference

12 December 2020

Early childhood diagnosis of acoustic neuromas in presymptomatic individuals at risk for neurofibromatosis 2

1 reference

12 December 2020

Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers

1 reference

12 December 2020

Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas

1 reference

12 December 2020

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

1 reference

12 December 2020

Central neurofibromatosis with bilateral acoustic neuroma

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755919%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

8755919

1 reference