(Q30501623)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1496982%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

title

Neurofibromatosis type 2 appears to be a genetically homogeneous disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1496982%20AND%20SRC:MED&resulttype=core&format=json

neurofibromatosis type II

20 September 2019

main subject

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

2 October 2022

1

Narod SA

2 references

21 September 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1496982%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

author name string

D. M. Parry

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

2 October 2022

J. Parboosingh

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

2 October 2022

G. M. Lenoir

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

2 October 2022

M. Ruttledge

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

2 October 2022

G. Fischer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

2 October 2022

R. Eldridge

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

2 October 2022

R. L. Martuza

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

2 October 2022

M. Frontali

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

2 October 2022

J. Haines

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

2 October 2022

language of work or name

English

0 references

publication date

1 September 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1496982%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

20 September 2019

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1496982/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1496982/pdf/?tool=EBI

2 October 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

https://europepmc.org/articles/PMC1682700

2 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

https://europepmc.org/articles/PMC1682700?pdf=render

2 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1496982

American Journal of Human Genetics

2 October 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1496982%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

volume

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1496982%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1496982%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

page(s)

486-496

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1496982%20AND%20SRC:MED&resulttype=core&format=json

Strategies for multilocus linkage analysis in humans

20 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

A polymorphic DNA marker genetically linked to Huntington's 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=1682700

Experiences with the microneurosurgical Treatment of bilateral acoustic Tumors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Neurofibromatosis 2: clinical and DNA linkage studies of 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=1682700

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=1682700

Early detection of small bilateral acoustic tumors.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Localization of the gene for familial adenomatous polyposis on chromosome 5.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Isolation and mapping of a polymorphic DNA sequence (pEFZ31) on chromosome 22 [D22S32]

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Evidence for genetic heterogeneity in tuberous sclerosis

20 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

20 June 2018

12 December 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Screening for multiple endocrine neoplasia type 2a with DNA-polymorphism analysis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

A genetic linkage map of the long arm of human chromosome 22.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

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=1682700

Neurofibromatosis 2: a clinically and genetically heterogeneous disease? Report on 10 sporadic cases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Linkage of early-onset familial breast cancer to chromosome 17q21

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Preservation of hearing 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=1682700

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Neurofibromatosis type 2: report of a family and review of current evaluation and treatment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

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=1682700

An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

A map of 22 loci on human chromosome 22.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Dinucleotide repeat polymorphism at the human CRYB2 gene locus (22q11.2).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Bilateral acoustic neurinoma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

[Bilateral tumors of the acoustic nerve and Recklinghausen's disease observed in several generations. Considerations on heriditary acoustic nerve tumors]

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Epidemiology of acoustic neuromas.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Linkage heterogeneity of autosomal dominant polycystic kidney disease

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682700

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

26 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset

1 reference

12 December 2020

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

1 reference

12 December 2020

A second genetic locus for autosomal dominant polycystic kidney disease

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

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

1 reference

12 December 2020

Familial breast-ovarian cancer locus on chromosome 17q12-q23

1 reference

12 December 2020

Report of the Committee on Methods of Linkage Analysis and Reporting

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

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1496982%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

1 reference