(Q30494983)

13 November 2017

Paediatric presentation of type 2 neurofibromatosis (English)

1 reference

13 November 2017

1

1 reference

13 November 2017

Birch JM

2

1 reference

PMCID

1718148

13 November 2017

Ramsden RT

series ordinal

3

1 reference

PMCID

1718148

13 November 2017

language of work or name

English

0 references

publication date

1 December 1999

1 reference

Archives of Disease in Childhood

13 November 2017

1 reference

13 November 2017

81

1 reference

13 November 2017

6

1 reference

13 November 2017

496-499

1 reference

A clinical study of type 1 neurofibromatosis in north west England

13 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718148

Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular 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=1718148

Hearing preservation in neurofibromatosis 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=1718148

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718148

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=1718148

Uptake of genetic testing for cancer predisposition.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718148

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=1718148

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=1718148

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=1718148

Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718148

Preservation of hearing in 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=1718148

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718148

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=1718148

Mosaicism in sporadic neurofibromatosis 2 patients.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718148

Type 2 neurofibromatosis: the need for supraregional care?

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718148

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=1718148

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

26 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.81.6.496

1 reference

13 November 2017

1 reference

13 November 2017

1 reference

PMCID

1718148