Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
about
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literatureCharacterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeOf mice and men: molecular genetics of congenital heart diseaseA novel RING finger protein, Znf179, modulates cell cycle exit and neuronal differentiation of P19 embryonal carcinoma cellsPenetrance 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.Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic BehaviorHaploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant BehaviorAbnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndromeGenomic 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).Behavioral disturbance and treatment strategies in Smith-Magenis syndromeA statin-regulated microRNA represses human c-Myc expression and function.Phenotypic heterogeneity of genomic disorders and rare copy-number variants.MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.Rare copy number variation in cerebral palsy.Phenotypic variability and genetic susceptibility to genomic disordersSmith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.Auditory Phenotype of Smith-Magenis Syndrome.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome.The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Dermatologic features of Smith-Magenis syndrome.Smith-Magenis Syndrome: Face Speaks.What can we learn from old microdeletion syndromes using array-CGH screening?Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome
P2860
Q24623891-DEDF9CC8-BE6F-41C3-8D75-446249F99C83Q24683002-D3B211B4-7EFC-4CE0-BE88-198237C8A9A0Q26995476-22B9B8F2-9BBE-4455-9E9C-8E7E72AB502AQ28507139-C1155E9C-8762-43EC-BA75-4DA8F9192E7CQ28589807-CF8B169F-375C-4855-B24E-4897CF764B11Q33672377-9A7AEC9F-4A34-4C7E-AEDB-A98D4C5DFA76Q33836605-A28D7496-4C7E-4BE2-A752-9D4CC1C2DC26Q33999024-F0CC5B42-E8E6-402F-8683-4410ECB0533EQ34050900-5753CAFF-2466-4B20-B36F-DA2FAE2F99D4Q34188749-E38CA914-4729-4E14-A3A9-E773F79A6E60Q34328822-3E8C3C1A-EE42-49A0-A32B-7B9C333217D6Q34428231-CFA0356E-D302-42F6-A9D5-2B195C829A04Q34461103-F3B7DDEC-0E38-4A2A-9586-7CEBF32D22CDQ34777768-F6D7FCF2-5DFE-4A16-A180-D03411A8AFBBQ35286605-15517B29-6D5F-4310-828D-D8468EA3A71EQ35578268-8F0C1C7E-B136-4545-991C-8676A95A8830Q35960747-BCD85C99-5EC6-406A-8434-D7065CD139ECQ35990963-86B2D039-2DD3-4246-9C68-DAA4D2F0BCAEQ36027440-4397D9D2-E58C-42D0-801C-AD01EE3A4C67Q36379501-4939998F-C5A9-44DB-A826-7849778F769BQ36387744-DF9F8173-2C18-46A2-9ABF-795014A0BBB6Q36695167-067055E0-D214-4147-97BC-47EC5896B2A8Q37397669-7AE0FF46-2778-43D8-9B63-56DE3E854BC0Q37784332-EEE5FB66-DF2A-45F2-B584-16B763EB5807Q37872382-D4BAEF52-4E0F-4FFD-980C-0D2D74E2F318Q38478012-13672511-C352-4B05-AEA4-70C03DA0D573Q38629504-95DE7571-A73B-46ED-8DCF-AFFCFDA3DBD3Q38849808-E45C9C32-1F9B-4ACE-987C-FDC3A0B61B21Q41643440-C69F118D-6B42-488B-98BA-532241B5B9F0Q42955370-2961EBE2-7F11-4164-9FFD-8854867EB6E4Q43232472-CFB94E34-5B20-4D65-83BF-93524A87A133Q46261319-37782DF6-0AAA-4D46-843C-4C1505A5CA72Q47293604-92AB8E37-ACD2-41ED-ACD3-1992EF0E283AQ47560319-F5B33239-14B2-4BDB-AE4D-745A8624EA4BQ48114792-A3A5BD55-DB06-4419-9F1D-39A310CD7297Q50544163-CE173492-1C75-4B01-A968-0BBF3CDDA213Q50795886-22CABF12-5FC5-40B4-86B0-044D2BECC371Q52644870-A7F7630A-99F4-4226-B7B3-FC73DD01EF96Q52863809-9FA88BCC-1CC5-4219-BEE6-8B3BBBFA8F7CQ57062003-A323234A-0AEA-4963-95DA-D855195AFDA6
P2860
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
description
2006 nî lūn-bûn
@nan
2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Genotype-phenotype correlation ...... ibute to the clinical spectrum
@ast
Genotype-phenotype correlation ...... ibute to the clinical spectrum
@en
Genotype-phenotype correlation ...... ibute to the clinical spectrum
@nl
type
label
Genotype-phenotype correlation ...... ibute to the clinical spectrum
@ast
Genotype-phenotype correlation ...... ibute to the clinical spectrum
@en
Genotype-phenotype correlation ...... ibute to the clinical spectrum
@nl
prefLabel
Genotype-phenotype correlation ...... ibute to the clinical spectrum
@ast
Genotype-phenotype correlation ...... ibute to the clinical spectrum
@en
Genotype-phenotype correlation ...... ibute to the clinical spectrum
@nl
P2093
P2860
P3181
P1433
P1476
Genotype-phenotype correlation ...... ibute to the clinical spectrum
@en
P2093
Barbara B Szomju
Christopher D Trevors
Christopher N Vlangos
David J Bunyan
Emily Edelman
Lucie Dupuis
Marjan Nezarati
Santhosh Girirajan
Sarah H Elsea
P2860
P304
P3181
P356
10.1097/01.GIM.0000228215.32110.89
P407
P577
2006-07-01T00:00:00Z
P5875
P6179
1017765917