(Q48254701)

English

Mutations in RAI1 associated with Smith-Magenis syndrome.

scientific article published on 24 March 2003

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scholarly article

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

Mutations in RAI1 associated with Smith-Magenis syndrome. (English)

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

author name string

Rebecca E Slager

1

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

Tiffany Lynn Newton

2

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

Christopher N Vlangos

3

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

Brenda Finucane

4

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

Sarah H Elsea

5

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

language of work or name

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publication date

24 March 2003

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

Nature Genetics

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

33

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

4

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

466-468

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

https://scigraph.springernature.com/pub.10.1038/ng1126

0 references

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

Definition of the critical interval for Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brain

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

The nuclear factor SPBP contains different functional domains and stimulates the activity of various transcriptional activators

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1126

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

1 reference

Europe PubMed Central

10 February 2018

http://europepmc.org/abstract/MED/12652298

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