(Q50516116)

14 March 2018

title

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

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14 March 2018

author name string

L Kluwe

series ordinal

1

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14 March 2018

V F Mautner

series ordinal

2

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14 March 2018

publication date

1 February 1996

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14 March 2018

published in

Human Genetics

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14 March 2018

volume

97

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14 March 2018

page(s)

224-227

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14 March 2018

issue

2

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14 March 2018

https://scigraph.springernature.com/pub.10.1007/bf02265270

exact match

0 references

cites work

Mutational analysis of patients with neurofibromatosis 2

1 reference

12 December 2020

A clinical study of type 2 neurofibromatosis

1 reference

12 December 2020

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

1 reference

12 December 2020

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas

1 reference

12 December 2020

Exon scanning for mutation of the NF2 gene in schwannomas.

1 reference

12 December 2020

Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnostic issues in a family with late onset type 2 neurofibromatosis

1 reference

12 December 2020

Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas

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12 December 2020

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.

1 reference

12 December 2020

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

1 reference

12 December 2020

A FAMILIAL FORM OF ACOUSTIC TUMOUR

1 reference

12 December 2020

DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

Screening for germ-line mutations in the NF2 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

A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected]

1 reference

12 December 2020

The neurofibromatosis type 2 gene is inactivated in schwannomas

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02265270

1 reference

14 March 2018

PubMed ID

8566958

1 reference

14 March 2018