The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. (Q35448670)

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13 January 2020

review article

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title

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2 (English)

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neurofibromatosis type II

13 January 2020

main subject

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18

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13 January 2020

Jan M Friedman

5

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13 January 2020

Laura Papi

11

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13 January 2020

author name string

Baser ME

1

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13 January 2020

Kuramoto L

2

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13 January 2020

Woods R

3

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13 January 2020

Joe H

4

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13 January 2020

Wallace AJ

6

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13 January 2020

Ramsden RT

7

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13 January 2020

Olschwang S

8

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13 January 2020

Bijlsma E

9

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13 January 2020

Kalamarides M

10

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13 January 2020

Kato R

12

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13 January 2020

Carroll J

13

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13 January 2020

Lázaro C

14

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13 January 2020

Joncourt F

15

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13 January 2020

Parry DM

16

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13 January 2020

Rouleau GA

17

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13 January 2020

language of work or name

English

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publication date

1 July 2005

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Journal of Medical Genetics

13 January 2020

published in

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13 January 2020

volume

42

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13 January 2020

issue

7

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13 January 2020

page(s)

540-546

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

13 January 2020

cites work

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Predictors of the risk of mortality in neurofibromatosis 2

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Functional analysis of neurofibromatosis 2 (NF2) missense mutations

12 July 2018

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Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis

12 July 2018

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Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2.

12 July 2018

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Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 protein

12 July 2018

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

12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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Universal absence of merlin, but not other ERM family members, in schwannomas.

12 July 2018

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Loss of merlin expression in sporadic meningiomas, ependymomas and schwannomas.

12 July 2018

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Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas.

12 July 2018

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Expression of neurofibromatosis 2 protein in human brain tumors: an immunohistochemical study.

12 July 2018

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

12 July 2018

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

12 July 2018

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The neuroimaging and clinical spectrum of neurofibromatosis 2.

12 July 2018

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

12 July 2018

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Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

12 July 2018

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Alleles of the APC gene: an attenuated form of familial polyposis

12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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

12 July 2018

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

12 July 2018

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Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients

12 July 2018

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12 July 2018

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26 September 2018

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26 September 2018

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26 September 2018

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26 September 2018

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26 September 2018

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

26 September 2018

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

26 September 2018

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Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.

26 September 2018

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Screening for germ-line mutations in the NF2 gene

26 September 2018

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A clinical study of type 2 neurofibromatosis

26 September 2018

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Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus

26 September 2018

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12 December 2020

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

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12 December 2020

Truncated NF2 proteins are not detected in meningiomas and schwannomas

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12 December 2020

Effects of Nf2 missense mutations on schwannomin interactions

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12 December 2020

Predictors of vestibular schwannoma growth in patients with neurofibromatosis Type 2

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12 December 2020

Evaluation of clinical diagnostic criteria for neurofibromatosis 2

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12 December 2020

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

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12 December 2020

Presymptomatic DNA and MRI diagnosis of neurofibromatosis 2 with mild clinical course in an extended pedigree

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12 December 2020

Phenotypic variability in monozygotic twins with neurofibromatosis 2

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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?

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12 December 2020

Neurofibromatosis 2 tumor suppressor protein, merlin, forms two functionally important intramolecular associations

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12 December 2020

Identifiers

DOI

10.1136/JMG.2004.029504

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994874%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994874%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

PubMed publication ID

15994874

1 reference