(Q30493308)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

neurofibromatosis type II

12 November 2019

main subject

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

David H. Gutmann

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

Chi-Chao Chan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Muriel I Kaiser-Kupfer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Dilys M Parry

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Zhengping Zhuang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Alexander O Vortmeyer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

publication date

1 September 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

198

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

14-20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

12 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

Gastric polyps: an update of their pathology and biological significance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

Neuro-ophthalmology of the phacomatoses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

NF1 gene and neurofibromatosis 1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

New developments in the neurobiology of the tuberous sclerosis complex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

Merlin: the neurofibromatosis 2 tumor suppressor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

The ocular presentation of 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=2543125

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and 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=2543125

Molecular insights into 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=2543125

Neurofibromatosis 1 and 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=2543125

Neurofibromatosis and associated tumour suppressor genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

Retinal changes associated 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=2543125

Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

Widespread but cell type-specific expression of the mouse neurofibromatosis type 2 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=2543125

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis 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=2543125

Clinical and genetic patterns of neurofibromatosis 1 and 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=2543125

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=2543125

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=2543125

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

Optic disk glioma 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=2543125

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=2543125

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=2543125

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=2543125

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=2543125

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=2543125

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

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=2543125

Blindness, deafness, quadriparesis, and a retinal malformation: the ravages of neurofibromatosis 2.

20 June 2018

1 reference

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

21 January 2018

1 reference

Dissociated vertical divergence: a righting reflex gone wrong

21 January 2018

1 reference

The neurofibromatosis type 2 gene is inactivated in schwannomas

21 January 2018

1 reference

Expression of neurofibromatosis 2 transcript and gene product during mouse fetal development.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

Translation of case reports in Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen by F. v. Recklinghausen.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2543125

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

26 November 2018

1 reference

VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma

21 January 2018

1 reference

12 December 2020

Morning glory disc anomaly in neurofibromatosis type 2

1 reference

12 December 2020

Pseudopapilledema in neurofibromatosis type 2

1 reference

12 December 2020

Merlin, DAL-1, and progesterone receptor expression in clinicopathologic subsets of meningioma: a correlative immunohistochemical study of 175 cases

1 reference

12 December 2020

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

1 reference

12 December 2020

Type 2 neurofibromatosis with Lisch nodules

1 reference

12 December 2020

Case of Tumours in the Skull, Dura Mater, and Brain

1 reference

12 December 2020

Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts but absence of Lisch nodules

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

1 reference

12 December 2020

Intraocular neurilemmoma arising from the posterior ciliary nerve in neurofibromatosis. Pathologic findings

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurofibromatosis type 2: a new mechanism of tumor suppression

1 reference

12 December 2020

Identifiers

DOI

10.1002/PATH.1174

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12210058%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PubMed publication ID

12210058

1 reference