RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
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Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literatureCNV and nervous system diseases--what's new?Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypePhenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsSmith-Magenis syndromePenetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alikeFunctional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis SyndromeRai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic BehaviorRAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromesDetection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.Genomic sister-disorders of neurodevelopment: an evolutionary approachWhole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).POGZ truncating alleles cause syndromic intellectual disability.Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brainGender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.Important Roles of Ring Finger Protein 112 in Embryonic Vascular Development and Brain Functions.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
P2860
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P2860
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
description
2006 nî lūn-bûn
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name
RAI1 point mutations, CAG repe ...... letion Smith-Magenis syndrome.
@en
RAI1 point mutations, CAG repe ...... letion Smith-Magenis syndrome.
@nl
type
label
RAI1 point mutations, CAG repe ...... letion Smith-Magenis syndrome.
@en
RAI1 point mutations, CAG repe ...... letion Smith-Magenis syndrome.
@nl
prefLabel
RAI1 point mutations, CAG repe ...... letion Smith-Magenis syndrome.
@en
RAI1 point mutations, CAG repe ...... letion Smith-Magenis syndrome.
@nl
P2093
P356
P1476
RAI1 point mutations, CAG repe ...... letion Smith-Magenis syndrome.
@en
P2093
Barbara Szomju
G Mustafa Saifi
Helen Firth
James R Lupski
Lorraine Potocki
R Ellen Magenis
Santhosh Girirajan
Sarah H Elsea
P304
P356
10.1002/AJMG.A.31510
P407
P577
2006-11-01T00:00:00Z