Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
about
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesCopy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesPhenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsA duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and menNeurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski SyndromesSmith-Magenis syndromeCHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis SyndromeSurgical treatment of scoliosis in Smith-Magenis syndrome: a case reportHuman 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome.Rai1 frees mice from the repression of active wake behaviors by light.Rai1 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 BehaviorImmune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probesAbnormal 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 syndromesAssessment 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 syndromeDetection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesEvolution and diversity of copy number variation in the great ape lineageIdentification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Genetic architecture of reciprocal CNVs.Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.Auditory Phenotype of Smith-Magenis Syndrome.Birt-Hogg-Dube syndrome is a novel ciliopathy.Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome.Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.Normalisation of left ventricular systolic function after change from VVI pacing to biventricular pacing in a child with congenital complete atrioventricular block, long-QT syndrome, and congenital muscular dystrophy: a 10-year follow-up.RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
P2860
Q24338502-7AB5465D-6177-46A0-BC57-2E37CF3738C3Q27005637-3865E24E-1161-44C0-B036-925BE85F574CQ27322785-CF4665D2-692A-4E1B-B071-5771C4546FCCQ27333802-34771239-719F-4E30-BEDC-8A7AA56DE603Q28078189-D8576D6E-76A6-4029-BB3B-CE821CB5C7D2Q28266475-962649B3-B974-4DEA-85A6-EA7D0B310B86Q30829917-657114F2-2EA0-43E3-98CC-445336F6434DQ33672377-2EB413F6-341A-40C5-ADAB-36EFE962AD58Q33724140-6192A3B6-EC60-448C-9694-06DE0CC64225Q33763587-83919181-7215-4784-B4B9-D0CF2F8EAE6AQ33779025-BAD4B3F0-1F4E-4D3E-8FB5-324C083861C1Q33836605-F399E6DE-DD16-4666-AF8B-D11DB9E350ADQ33999024-14BCA948-D4D3-49A9-9BBE-C2EFB2B9E57CQ34050900-3F2C3B7A-A4F3-4A69-9415-5F8FBECB88BCQ34188749-A6E41A20-65B3-4693-82B4-D547EC87606CQ34359454-203AEB5B-2ACD-47AA-8A48-F2249AB9013AQ34428231-4A6CE4C6-8928-4281-A348-0775A94FA52CQ34537392-D3EE571D-2F7B-4662-98DB-5FA2252D597CQ34777768-F7ABB06F-F36D-46F9-8926-6078CC61F9A4Q35015379-770B9232-6D82-4CA5-96DF-7BDE96BD9DA8Q35286605-94D8F405-170E-4A63-A7C0-222F1A31C4F3Q35578268-7EA11749-2B18-44A6-BD41-7F75081AAA73Q35679782-A057CEDA-0DB9-4F08-8BE9-4B4FAE1D559AQ35990963-810825B6-CD70-47A6-85B6-C846A4A93AB8Q36190444-68546282-72F3-4AAE-B9DC-1526F287C07BQ36543066-9751FA28-E31C-4A90-B75B-4EBCE878094AQ37138645-5FB1FB2C-F725-49DF-B696-C1C5A46ECD70Q37383603-16509F20-EEF2-4503-948E-291504B9F6B1Q37872382-BCB3237B-BB90-4645-940C-CFE5A147992EQ38112901-26AE6C9C-5EC3-4C69-978E-323C1624065EQ38629504-CC6C0500-1234-4810-AA0C-67C2CD948915Q38849808-6747E447-F4A4-4E58-AD7B-61BB9BBE5A1AQ39137512-C00C098F-2E09-4C5B-B417-FB9E1916856FQ40297517-26092166-A1B7-4B58-9491-854286EF8559Q41643440-302CA0CE-47D9-48C6-A4D3-2B730BFCAEB1Q42373035-AFA6BE8E-885D-4277-BB01-6A4FBF34AAC8Q42414688-F4746EE9-A8F4-425A-9D86-93C1504E0DD2Q42955370-312BB770-1375-457E-B044-D2D35D5F95F5Q44590898-48E35196-F666-44CB-8A1E-3C7F6DE3305FQ46261319-FCF37ABD-6E55-40AF-8635-3E508038BC80
P2860
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Gender, genotype, and phenotyp ...... a meta-analysis of 105 cases.
@en
type
label
Gender, genotype, and phenotyp ...... a meta-analysis of 105 cases.
@en
prefLabel
Gender, genotype, and phenotyp ...... a meta-analysis of 105 cases.
@en
P2093
P2860
P1433
P1476
Gender, genotype, and phenotyp ...... : a meta-analysis of 105 cases
@en
P2093
P2860
P304
P356
10.1111/J.1399-0004.2007.00815.X
P577
2007-06-01T00:00:00Z