Associated Papers
Wilms tumor primary cultures capture phenotypic heterogeneity and facilitate preclinical screening.
Götz L et al.
Translational Oncology, 2025
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
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
Rinaldi B et al.
Genes, 2022
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
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.
Thaker VV et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
Boone PM et al.
American Journal of Medical Genetics. Part A, 2011
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
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
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