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Article

New developments in Smith-Magenis syndrome (del 17p11.2).

Current opinion in neurology - 1 Apr 2007

Gropman Andrea L, Elsea Sarah, Duncan Wallace C, Smith Ann C M

Abstract excerpt

PURPOSE OF REVIEW: Recent clinical, neuroimaging, sleep, and molecular cytogenetic studies have provided new insights into the mechanisms leading to the Smith-Magenis phenotype and are summarized in this review. RECENT FINDINGS: Cross sectional studies of patients with Smith-Magenis syndrome have found evidence for central and peripheral nervous system abnormalities, neurobehavioral disturbances, and an inverted...

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Source

Identifiers

PMID: 17351481
DOI: 10.1097/WCO.0b013e3280895dba

Genes

RAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

New developments in Smith-Magenis syndrome (del 17p11.2).PMID 17351481Read ↗

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related DisordersSemantic proximity Read ↗

[Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders].Semantic proximity Read ↗

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.Semantic proximity Read ↗

Novel <em>De Novo RAI1</em>:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint AnalysisSemantic proximity Read ↗

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.Semantic proximity Read ↗

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.Semantic proximity Read ↗

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].Semantic proximity Read ↗

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.Semantic proximity Read ↗

Behavioral phenotype and neuropsychological profile of an adult with Smith-Magenis Syndrome due to a previously unreported RAI1 mutation: A case reportSemantic proximity Read ↗

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.Semantic proximity Read ↗

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski SyndromesSemantic proximity Read ↗

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.Semantic proximity Read ↗

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