(Q42977347)

12 November 2017

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study (English)

1 reference

neurofibromatosis type II

12 November 2017

1 reference

1 reference

8

1 reference

12 November 2017

Michael E Baser

1

1 reference

12 November 2017

Lisa Kuramoto

2

1 reference

12 November 2017

Harry Joe

3

1 reference

12 November 2017

J M Friedman

4

1 reference

12 November 2017

Andrew J Wallace

5

1 reference

12 November 2017

James E Gillespie

6

1 reference

12 November 2017

Richard T Ramsden

7

1 reference

12 November 2017

language of work or name

English

0 references

publication date

9 June 2004

1 reference

American Journal of Human Genetics

12 November 2017

1 reference

12 November 2017

75

1 reference

12 November 2017

231-239

1 reference

12 November 2017

2

1 reference

Neurofibromatosis 2 in the pediatric population

12 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2).

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Predictors of the risk of mortality in neurofibromatosis 2

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Paediatric presentation of type 2 neurofibromatosis

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Skin abnormalities in neurofibromatosis 2.

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

The neuroimaging and clinical spectrum of neurofibromatosis 2.

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Genotype-phenotype correlations for cataracts in neurofibromatosis 2.

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Age at symptom onset and long-term survival in patients with neurofibromatosis Type 2.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

NF2 gene deletion in a family with a mild phenotype.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

NF2 gene in neurofibromatosis type 2 patients.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Mosaicism in sporadic neurofibromatosis 2 patients.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Defects in neurofibromatosis 2 protein function can arise at multiple levels.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Neurofibromatosis 2 in the pediatric age group.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Screening for germ-line mutations in the NF2 gene.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

A clinical study of type 2 neurofibromatosis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study

3 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216057

Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene?

1 December 2018

1 reference

12 December 2020

Meta-PCR: a novel method for creating chimeric DNA molecules and increasing the productivity of mutation scanning techniques

1 reference

12 December 2020

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

1 reference

12 December 2020

Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype

1 reference

12 December 2020

Effects of Nf2 missense mutations on schwannomin interactions

1 reference

12 December 2020

Predictors of vestibular schwannoma growth in patients with neurofibromatosis Type 2

1 reference

12 December 2020

Case of Tumours in the Skull, Dura Mater, and Brain

1 reference

12 December 2020

Familial central nervous system neoplasia. Case report of a family with von Recklinghausen's neurofibromatosis

1 reference

12 December 2020

Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations

1 reference

12 December 2020

A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The diagnosis and management of neurofibromatosis 2 in childhood

1 reference

12 December 2020

Identifiers

DOI

10.1086/422700

1 reference

12 November 2017

1 reference

12 November 2017

1 reference