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
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
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
POGZ truncating alleles cause syndromic intellectual disability.
White J et al.
Genome Medicine, 2016
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
27082237 (PubMed )
Supplement: pone.0153841.s002.pdf
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
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
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
Bi W et al.
American Journal of Medical Genetics. Part A, 2006
Select a paper to view details