Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
about
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesNeurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski SyndromesSmith-Magenis syndromeThe 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.Endogenous melatonin is not obligatory for the regulation of the rat sleep-wake cycle.Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.Autism spectrum features in Smith-Magenis syndrome.Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome.Insertion of foreign bodies (polyembolokoilamania): underpinnings and management strategies.Behavioral disturbance and treatment strategies in Smith-Magenis syndromeNeurodevelopment of children under 3 years of age with Smith-Magenis syndromeSmith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Auditory Phenotype of Smith-Magenis Syndrome.Yin-yang actions of histone methylation regulatory complexes in the brain.Genetic counseling, activism and 'genotype-first' diagnosis of developmental disorders.Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.Onychotillomania: clinicopathologic correlations.Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy.Multi-ethnic Meta-analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea Related Quantitative Trait Locus in Men.RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Dermatologic features of Smith-Magenis syndrome.Sensory motor and functional skills of dizygotic twins: one with Smith-Magenis syndrome and a twin control.Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith-Magenis Syndrome and Down Syndrome.Smith-Magenis Syndrome: Face Speaks.Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndromeCaracterísticas clínicas, comportamentais, cognitivas e comunicativa na síndrome Smith-Magenis
P2860
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P2860
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
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2006年學術文章
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name
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
@ast
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
@en
type
label
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
@ast
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
@en
prefLabel
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
@ast
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
@en
P2093
P1433
P1476
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
@en
P2093
Andrea L Gropman
Ann C M Smith
Wallace C Duncan
P304
P356
10.1016/J.PEDIATRNEUROL.2005.08.018
P577
2006-05-01T00:00:00Z