(Q30495365)

4 November 2017

Misleading linkage results in an NF2 presymptomatic test owing to mosaicism (English)

1 reference

4 November 2017

3

1 reference

4 November 2017

Bijlsma EK

1

1 reference

4 November 2017

Wallace AJ

series ordinal

2

1 reference

4 November 2017

language of work or name

English

0 references

publication date

1 November 1997

1 reference

Journal of Medical Genetics

4 November 2017

1 reference

4 November 2017

34

1 reference

4 November 2017

11

1 reference

4 November 2017

934-936

1 reference

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=1051124

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051124

Highly polymorphic dinucleotide repeat at the NF2 gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051124

Diagnostic issues in a family with late onset type 2 neurofibromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051124

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051124

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051124

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=1051124

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=1051124

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=1051124

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=1051124

Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers

26 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the D22S268 locus

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.11.934

1 reference

4 November 2017

1 reference

4 November 2017

PubMed publication ID

9391890

1 reference