RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions (Q35447397)

8 August 2017

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions (English)

1 reference

8 August 2017

Smith-Magenis syndrome

1 reference

S Girirajan

1

1 reference

8 August 2017

L J Elsas

series ordinal

2

1 reference

8 August 2017

K Devriendt

series ordinal

3

1 reference

8 August 2017

S H Elsea

series ordinal

4

1 reference

8 August 2017

language of work or name

English

0 references

publication date

23 March 2005

1 reference

Journal of Medical Genetics

8 August 2017

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8 August 2017

42

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8 August 2017

11

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8 August 2017

820-828

1 reference

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

ALL-1 is a histone methyltransferase that assembles a supercomplex of proteins involved in transcriptional regulation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

MLL targets SET domain methyltransferase activity to Hox gene promoters

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Analysis of 14 CAG repeat-containing genes in schizophrenia.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

The face of Smith-Magenis syndrome: a subjective and objective study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Transcriptional activation modulated by homopolymeric glutamine and proline stretches

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

The PHD finger: implications for chromatin-mediated transcriptional regulation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Hairless, a Drosophila gene involved in neural development, encodes a novel, serine rich protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

Mutations in RAI1 associated with Smith-Magenis syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735950

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15788730

12 December 2020

inferred from PubMed ID database lookup

Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15788730

12 December 2020

inferred from PubMed ID database lookup

The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15788730

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.2005.031211

1 reference

release_6ussynn2s5fz5onx2cnwww4h2u

8 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6ussynn2s5fz5onx2cnwww4h2u

24 November 2022

mapped directly with Wikidata item

PMCID

1735950

1 reference

8 August 2017

1 reference