(Q47304921)

13 January 2018

review article

1 reference

title

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). (English)

1 reference

13 January 2018

main subject

Smith-Magenis syndrome

1 reference

1 reference

Smith AC

1

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13 January 2018

Dykens E

series ordinal

2

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13 January 2018

Greenberg F

series ordinal

3

1 reference

13 January 2018

publication date

1 March 1998

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13 January 2018

American Journal of Medical Genetics Part A

published in

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13 January 2018

volume

81

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13 January 2018

issue

2

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13 January 2018

page(s)

179-185

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13 January 2018

Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Ophthalmic manifestations of Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Interstitial deletion of (17)(p11.2p11.2) in nine patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Localization of the adenosine A2b receptor subtype gene (ADORA2B) to chromosome 17p11.2-p12 by FISH and PCR screening of somatic cell hybrids

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C179%3A%3AAID-AJMG10%3E3.0.CO%3B2-E

10.1002/(SICI)1096-8628(19980328)81:2<179::AID-AJMG10>3.0.CO;2-E

21 January 2018

Identifiers

DOI

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Fatcat

https://api.fatcat.wiki/v0/release/bd6jnzo6obgnlfod7j6b27ducq

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30 July 2022

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Fatcat ID

release_bd6jnzo6obgnlfod7j6b27ducq

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Fatcat

https://api.fatcat.wiki/v0/release/bd6jnzo6obgnlfod7j6b27ducq

mapped directly with Wikidata item

30 July 2022

based on heuristic

https://api.fatcat.wiki/v0/release/bd6jnzo6obgnlfod7j6b27ducq

1 reference