Smith-Magenis syndrome (Q28266475)

European Journal of Human Genetics

Europe PubMed Central

title

Smith-Magenis syndrome (English)

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author name string

Sarah H Elsea

series ordinal

1

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Santhosh Girirajan

series ordinal

2

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language of work or name

English

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publication date

April 2008

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published in

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volume

16

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issue

4

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page(s)

412-21

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cites work

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

1 reference

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

21 April 2017

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Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

21 April 2017

1 reference

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Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5202009

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

21 April 2017

1 reference

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5202009

beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

21 April 2017

1 reference

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Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome

21 April 2017

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Mutations in RAI1 associated with Smith-Magenis syndrome

21 April 2017

1 reference

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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

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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

21 January 2018

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Ophthalmic manifestations of Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

Diagnostic hand anomalies in Smith-Magenis syndrome: Four new patients with del (17)(p11.2p11.2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

Polydactyly in a boy with Smith-Magenis syndrome

21 January 2018

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The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis.

21 January 2018

1 reference

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Otorhinolaringologic manifestation of Smith-Magenis syndrome

21 January 2018

1 reference

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

21 January 2018

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Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

21 January 2018

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

21 January 2018

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Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

21 January 2018

1 reference

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

21 January 2018

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

21 January 2018

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Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

21 January 2018

1 reference

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Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

Transcriptional activation modulated by homopolymeric glutamine and proline stretches

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

Craniofacial and dental phenotype of Smith-Magenis syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021

Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021

Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021

The PHD finger: implications for chromatin-mediated transcriptional regulation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202009

7 January 2021