(Q37872382)

24 August 2017

1 reference

title

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways (English)

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24 August 2017

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Smith-Magenis syndrome

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Stephen R Williams

2

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author name string

Sarah H Elsea

series ordinal

1

1 reference

24 August 2017

19 April 2011

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Expert Reviews in Molecular Medicine

24 August 2017

1 reference

24 August 2017

13

1 reference

24 August 2017

e14

1 reference

Otorhinolaringologic manifestation of Smith-Magenis syndrome.

24 August 2017

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

New developments in Smith-Magenis syndrome (del 17p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

21 January 2018

Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Time of feeding and the intrinsic circadian clock drive rhythms in hepatic gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Up-regulating BDNF with an ampakine rescues synaptic plasticity and memory in Huntington's disease knockin mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Ampakines cause sustained increases in brain-derived neurotrophic factor signaling at excitatory synapses without changes in AMPA receptor subunit expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

A large case-control study of common functional SLC6A4 and BDNF variants in obsessive-compulsive disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Variation in brain-derived neurotrophic factor (BDNF) gene is associated with symptoms of depression

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

BDNF in schizophrenia, depression and corresponding animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Obesity and metabolic syndrome in circadian Clock mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

A functional network module for Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Mutations in RAI1 associated with Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Diversity of human copy number variation and multicopy genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

The array CGH and its clinical applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Solution structure of the PHD domain from the KAP-1 corepressor: structural determinants for PHD, RING and LIM zinc-binding domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

How much is too much? Phenotypic consequences of Rai1 overexpression in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

The PHD finger, a nuclear protein-interaction domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Initial sequencing and comparative analysis of the mouse genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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/10.1017%2FS1462399411001827

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

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/10.1017%2FS1462399411001827

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Ophthalmic manifestations of Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

7 January 2021

Craniofacial and dental phenotype of Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

7 January 2021

Effect of shift work on body mass index: results of a study performed in 319 glucose-tolerant men working in a Southern Italian industry

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

7 January 2021

Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

7 January 2021

Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399411001827

7 January 2021

10.1017/S1462399411001827

Identifiers

DOI

1 reference

24 August 2017

1 reference

PubMed ID

21545756