(Q50486035)

14 March 2018

title

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

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14 March 2018

neurofibromatosis type II

main subject

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4

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14 March 2018

Jan M Friedman

11

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14 March 2018

Guy A. Rouleau

9

object named as

Rouleau GA

1 reference

14 March 2018

Zhao Y

1

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14 March 2018

Kumar RA

2

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14 March 2018

Baser ME

3

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14 March 2018

Wallace A

5

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14 March 2018

Kluwe L

6

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14 March 2018

Mautner VF

7

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14 March 2018

Parry DM

8

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14 March 2018

Joe H

10

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14 March 2018

publication date

1 October 2002

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14 March 2018

published in

Genetic Epidemiology

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14 March 2018

volume

23

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14 March 2018

issue

3

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14 March 2018

page(s)

245-259

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14 March 2018

Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

21 January 2018

Neurofibromatosis type 2

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

NF2 gene deletion in a family with a mild phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

Screening for germ-line mutations in the NF2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

Monogenic traits are not simple: lessons from phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

NF2 gene in neurofibromatosis type 2 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

A Mixed Effects Model for Overdispersed Count Data in Animal Breeding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

Phenotypic variability in monozygotic twins with neurofibromatosis 2

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

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 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

Genetic evaluation of traits distributed as Poisson-binomial with reference to reproductive characters

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

Neurofibromatosis 2 phenotypes and germ-line NF2 mutations determined by an RNA mismatch method and loss of heterozygosity analysis in NF2 schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

The diagnosis and management of neurofibromatosis 2 in childhood

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.10181

7 January 2021

Identifiers

DOI

10.1002/GEPI.10181

1 reference

14 March 2018

release_6v53avv6rbhbrjeub3ybhfr4ze

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6v53avv6rbhbrjeub3ybhfr4ze

24 November 2022

mapped directly with Wikidata item

PubMed ID

12384977

1 reference

14 March 2018