(Q51933515)

17 April 2018

title

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. (English)

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17 April 2018

main subject

Smith-Magenis syndrome

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based on heuristic

inferred from title

author name string

Christopher N Vlangos

1

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17 April 2018

Meredith Wilson

2

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17 April 2018

Jan Blancato

3

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17 April 2018

Ann C M Smith

4

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17 April 2018

Sarah H Elsea

5

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17 April 2018

language of work or name

English

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publication date

1 January 2005

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17 April 2018

American Journal of Medical Genetics

published in

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17 April 2018

volume

132A

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17 April 2018

issue

3

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17 April 2018

page(s)

278-282

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17 April 2018

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

Mutations in RAI1 associated with Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

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%2FAJMG.A.30461

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30461

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.30461

1 reference

17 April 2018

1 reference

17 April 2018