Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
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DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsThree rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityRai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.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 probesA phylogenetic study of SPBP and RAI1: evolutionary conservation of chromatin binding modules.Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndromeIdentification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.Trans-acting epigenetic effects of chromosomal aneuploidies: lessons from Down syndrome and mouse models.Increased expression of retinoic acid-induced gene 1 in the dorsolateral prefrontal cortex in schizophrenia, bipolar disorder, and major depression.Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and OverviewA novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Retinoic acid induced 16 enhances tumorigenesis and serves as a novel tumor marker for hepatocellular carcinoma.RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.Neurobiology, pathophysiology, and treatment of melatonin deficiency and dysfunction
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P2860
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Molecular analysis of the Reti ...... without the 17p11.2 deletion.
@ast
Molecular analysis of the Reti ...... without the 17p11.2 deletion.
@en
type
label
Molecular analysis of the Reti ...... without the 17p11.2 deletion.
@ast
Molecular analysis of the Reti ...... without the 17p11.2 deletion.
@en
prefLabel
Molecular analysis of the Reti ...... without the 17p11.2 deletion.
@ast
Molecular analysis of the Reti ...... without the 17p11.2 deletion.
@en
P2093
P2860
P1433
P1476
Molecular analysis of the Reti ...... without the 17p11.2 deletion.
@en
P2093
Ann C M Smith
Carla Ciccone
Charu Deshpande
Gerald F Cox
Jan K Blancato
Marjan Huizing
Thierry Vilboux
Wendy J Introne
William A Gahl
P2860
P304
P356
10.1371/JOURNAL.PONE.0022861
P407
P577
2011-08-08T00:00:00Z