Diagnostic issues in a family with late onset type 2 neurofibromatosis (Q30495374)

4 November 2017

Diagnostic issues in a family with late onset type 2 neurofibromatosis (English)

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4 November 2017

1

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4 November 2017

Bourn D

2

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4 November 2017

Wallace A

3

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4 November 2017

Ramsden RT

4

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4 November 2017

Mitchell JD

5

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4 November 2017

Strachan T

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4 November 2017

language of work or name

English

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publication date

1 June 1995

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Journal of Medical Genetics

4 November 2017

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4 November 2017

32

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4 November 2017

6

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4 November 2017

470-474

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

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050488

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=1050488

Neurofibromatosis type 2 appears to be a genetically homogeneous disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050488

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=1050488

A second-generation linkage map of the human genome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050488

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=1050488

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=1050488

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=1050488

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

26 November 2018

1 reference

12 December 2020

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

1 reference

12 December 2020

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

12 December 2020

Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.6.470

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release_4jm73e2tpjevxoniq7hp65wcqe

4 November 2017

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Fatcat

https://api.fatcat.wiki/v0/release/4jm73e2tpjevxoniq7hp65wcqe

24 November 2022

mapped directly with Wikidata item

1 reference

4 November 2017

1 reference