(Q34403880)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1 reference

Europe PubMed Central

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

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

hereditary multiple exostoses

1 reference

based on heuristic

inferred from title

author name string

Potocki L

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Shaffer LG

2

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Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

1 March 1996

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Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Medical Genetics Part A

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Europe PubMed Central

PubMed publication ID

1 August 2017

62

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Europe PubMed Central

PubMed publication ID

1 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

319-325

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

Chromosome deletion and multiple cartilaginous exostoses

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

Hereditary multiple exostoses.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

Natural history study of hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

Gene dose effect: intraband mapping of the <i>LDH A </i>locus using cells from four individuals with different interstitial deletions of 11p

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

The natural history of hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960329%2962%3A3%3C319%3A%3AAID-AJMG22%3E3.0.CO%3B2-M

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19960329)62:3<319::AID-AJMG22>3.0.CO;2-M

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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