Associated Papers
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
Rinaldi B et al.
Genes, 2022
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
Abad C et al.
Biology, 2018
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
Acquaviva F et al.
American Journal of Medical Genetics. Part A, 2017
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
Falco M et al.
The Application of Clinical Genetics, 2017
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
Сhurbanov AY et al.
Plos One, 2016
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
Vieira GH et al.
European Journal of Human Genetics : Ejhg, 2012
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.
Carmona-Mora P et al.
Plos One, 2012
Select a paper to view details