(Q30495332)

15 October 2017

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

1 reference

neurofibromatosis type II

15 October 2017

1 reference

L Kluwe

1

1 reference

15 October 2017

V Mautner

2

1 reference

15 October 2017

B Heinrich

3

1 reference

15 October 2017

R Dezube

4

1 reference

15 October 2017

L B Jacoby

5

1 reference

15 October 2017

R E Friedrich

6

1 reference

15 October 2017

M MacCollin

7

1 reference

15 October 2017

language of work or name

English

0 references

publication date

1 February 2003

1 reference

Journal of Medical Genetics

15 October 2017

1 reference

15 October 2017

40

1 reference

15 October 2017

2

1 reference

15 October 2017

109-114

1 reference

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

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735360

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735360

Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735360

Misleading linkage results in an NF2 presymptomatic test owing to mosaicism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735360

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and 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=1735360

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735360

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=1735360

The neuroimaging and clinical spectrum of 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=1735360

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=1735360

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735360

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=1735360

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=1735360

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=1735360

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735360

NF2 gene in neurofibromatosis type 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=1735360

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=1735360

A point mutation associated with a severe phenotype of neurofibromatosis 2.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735360

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=1735360

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=1735360

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

26 November 2018

1 reference

12 December 2020

Frequency and distribution of NF2 mutations in schwannomas

1 reference

12 December 2020

Phenotypic variability associated with 14 splice-site mutations in the NF2 gene

1 reference

12 December 2020

Somatic mosaicism in von Hippel-Lindau Disease

1 reference

12 December 2020

Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis

1 reference

12 December 2020

The parental origin of new mutations in neurofibromatosis 2

1 reference

12 December 2020

Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.40.2.109

1 reference

15 October 2017

1 reference

15 October 2017

PubMed publication ID

12566519

1 reference