Associated Papers
Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.
Linders CC et al.
Genes, 2023
Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2022
First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember.
Pan M et al.
Taiwanese Journal of Obstetrics & Gynecology, 2020
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
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
Genomic and molecular characterization of esophageal squamous cell carcinoma.
Lin DC et al.
Nature Genetics, 2014
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.
Dubourg C et al.
Molecular Syndromology, 2014
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
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
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
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
Bi W et al.
Human Genetics, 2004