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Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 01/2016, Volume 6, Issue 1, p. 19010
RAI1 (retinoic acid induced-1) is a dosage-sensitive gene that causes Smith-Magenis syndrome (SMS) when mutated or deleted and Potocki-Lupski Syndrome (PTLS)... 
INTELLECTUAL DISABILITY | VARIABILITY | ACID-INDUCED 1 | ANNOTATION | MULTIDISCIPLINARY SCIENCES | SCHIZOPHRENIA | MICE | DUP(P11.2P11.2) | PHENOTYPIC CONSEQUENCES | MUTATIONS | HAPLOINSUFFICIENCY | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Neurons - pathology | Humans | Chromosome Duplication - genetics | Genotyping Techniques | RNA, Messenger - metabolism | Smith-Magenis Syndrome - metabolism | Prefrontal Cortex - pathology | Smith-Magenis Syndrome - genetics | Base Sequence | Neurons - metabolism | Nuclear Proteins - genetics | Temporal Lobe - pathology | Retinoid X Receptors - genetics | Retinoid X Receptors - metabolism | Abnormalities, Multiple - genetics | Chromosome Disorders - pathology | Signal Transduction | Chromosome Disorders - metabolism | RNA, Messenger - genetics | Gene Expression Regulation | Genotype | Nuclear Proteins - metabolism | Gene Dosage | Transcription Factors - genetics | Temporal Lobe - metabolism | Transcription Factors - metabolism | Phenotype | Prefrontal Cortex - metabolism | Cell Line, Tumor | Polymorphism, Single Nucleotide | Mutation | Smith-Magenis Syndrome - pathology | Chromosome Disorders - genetics | Gene dosage | Cortex (prefrontal) | Chromatin | Immunoprecipitation | Mental disorders | Retinoic acid receptors | Data processing | Single-nucleotide polymorphism | Retinoid X receptors | Gene expression | Acids | Retinoic acid | Cortex (temporal)
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2012, Volume 7, Issue 9, p. e45155
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 8, p. e22861
Journal Article
Journal Article
Molecular medicine reports, 01/2016, Volume 13, Issue 1, p. 347
Smith‑Magenis syndrome (SMS) is a rare condition with multiple congenital malformations caused by the haploinsufficiency of RAI1 (deletion or mutation of... 
Uterus - pathology | Smith-Magenis Syndrome - diagnostic imaging | Humans | Fetus - pathology | DNA Copy Number Variations - genetics | Twins, Monozygotic | Pregnancy | Young Adult | Phenotype | Ultrasonography, Prenatal | Placenta - pathology | Female | Chromosomes, Human | Smith-Magenis Syndrome - pathology
Journal Article
Genetics and molecular research : GMR, ISSN 1676-5680, 2011, Volume 10, Issue 4, pp. 2664 - 2670
Journal Article