Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome (Q74267033)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

hereditary multiple exostoses

9 November 2019

main subject

Contiguous gene syndrome

1 reference

based on heuristic

inferred from title

1 reference

A H Ligon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

L Potocki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

L G Shaffer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

D Stickens

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

G A Evans

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 February 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

9 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

75

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

538-540

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

Human haploinsufficiency — one for sorrow, two for joy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

A gene for hereditary multiple exostoses maps to chromosome 19p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

The natural history of hereditary multiple exostoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

Natural history study of hereditary multiple exostoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

Positional cloning of a gene involved in hereditary multiple exostoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C538%3A%3AAID-AJMG17%3E3.0.CO%3B2-L

10.1002/(SICI)1096-8628(19980217)75:5<538::AID-AJMG17>3.0.CO;2-L

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9489802%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference