(Q30502813)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

neurofibromatosis type II

18 October 2019

main subject

1 reference

8

J F Gusella

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

author name string

D M Parry

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

M M MacCollin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

M I Kaiser-Kupfer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

K Pulaski

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

H S Nicholson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

M Bolesta

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

R Eldridge

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

language of work or name

English

0 references

publication date

1 September 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

18 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

page(s)

529-539

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

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

18 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Ocular fundus in neurofibromatosis type 2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

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=1914910

Exon scanning for mutation of the NF2 gene in schwannomas

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Mutational analysis of patients with neurofibromatosis 2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

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=1914910

Ocular abnormalities in neurofibromatosis 2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Severe Gardner syndrome in families with mutations restricted to a specific region of the APC 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=1914910

Bilateral Acoustic Neuroma in a Large Kindred

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

[A family of von Recklinghausen's neurofibromatosis complicated by mononeuritis multiplex, bilateral acoustic neurinomas, and falx and spinal meningiomas]

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Neurofibromatosis 2 (bilateral acoustic 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=1914910

The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Combined hamartoma of sensory retina and retinal pigment epithelium

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Retinal hamartoma in neurofibromatosis 2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Neurofibromatous neuropathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Neurofibromatosis 2 (bilateral acoustic or central neurofibromatosis), a treatable cause of deafness. Recommendations for screening and follow-up based on study of one large kindred

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Bilateral retinal hamartomas in neurofibromatosis type 2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Combined hamartoma of the retina and retinal pigment epithelium in a patient with neurofibromatosis type 2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

A case of neurofibromatosis 2 presenting with a mononeuritis multiplex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Neurofibromatosis type 2 appears to be a genetically homogeneous disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

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=1914910

A gene family consisting of ezrin, radixin and moesin. Its specific localization at actin filament/plasma membrane association sites

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Ocular findings associated with neurofibromatosis type II.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Cafe-au-Lait Spots of the Fundus in 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=1914910

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

The neurofibromatosis type 2 gene is inactivated in schwannomas

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated 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=1914910

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=1914910

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914910

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=1914910

Familial central nervous system neoplasia. Case report of a family with von Recklinghausen's neurofibromatosis

26 November 2018

1 reference

12 December 2020

Early-onset neuroma: genetic, clinical and nosologic aspects

1 reference

12 December 2020

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

1 reference

12 December 2020

Combined hamartomas of the retina and retinal pigment epithelium

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2

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

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

1 reference

12 December 2020

Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers

1 reference

12 December 2020

One gene—four syndromes

1 reference

12 December 2020

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

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

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

1 reference

12 December 2020

Predominant occurrence of somatic mutations of theNF2 gene in meningiomas and schwannomas

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8751853%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

8751853

1 reference