Associated Papers
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
Rinaldi B et al.
Genes, 2022
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.
Mullegama SV et al.
European Journal of Human Genetics : Ejhg, 2015
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.
Carmona-Mora P et al.
Plos One, 2012
Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
Elsea SH et al.
Expert Reviews in Molecular Medicine, 2011
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
Vilboux T et al.
Plos One, 2011
Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior.
Carmona-Mora P et al.
Current Genomics, 2010
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.
Truong HT et al.
Bmc Medical Genetics, 2010
Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.
Carmona-Mora P et al.
Bmc Molecular Biology, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Smith-Magenis syndrome.
Elsea SH et al.
European Journal of Human Genetics : Ejhg, 2008
New developments in Smith-Magenis syndrome (del 17p11.2).
Gropman AL et al.
Current Opinion in Neurology, 2007
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Girirajan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
Girirajan S et al.
Journal of Medical Genetics, 2005
Overview of Smith-Magenis syndrome.
Smith AC et al.
Journal of the Association of Genetic Technologists, 2005