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32 results
  1. Smith-Magenis syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome
    ... gov Catalog of Genes and Diseases from OMIM SMITH-MAGENIS SYNDROME; SMS Scientific Articles on PubMed PubMed References Carmona-Mora P, Encina CA, Canales CP, Cao ...
  2. Smith-Magenis Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1310
    ... may contain more recent information. — ED. Table A. Smith-Magenis Syndrome: Genes and ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. Potocki-Lupski Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK447920
    ... to the renal abnormalities [ Goh et al 2012 ]. References Literature Cited Bi W. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet. 2005; 14 :983–95. [ PubMed : ...
  4. RAI1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/rai1
    ... RAI1 Gene and Variant Databases NCBI Gene ClinVar References Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR. RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; ...
  5. Chromosome 17: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/chromosome/17
    ... Potocki-Lupski syndrome. More About This Health Condition Smith-Magenis syndrome Smith-Magenis syndrome usually results from a deletion of a small ... p arm designated p11.2. The features of Smith-Magenis syndrome include mild to moderate intellectual disabilities, delayed speech ...
  6. MBD5 Haploinsufficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK390803
    ... autism-associated genes including UBE3A ( Angelman syndrome ), RAI1 ( Smith-Magenis syndrome ), TCF4 ( Pitt-Hopkins syndrome ), MEF2C (5q14.3 deletion ... other neurogenetic conditions. She studies the following disorders: Smith-Magenis syndrome, MAND – 2q23.1 deletion syndrome and 2q23.1 ...
  7. 16p12.2 Recurrent Deletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK274565
    ... as compared to those with syndromic CNVs (like Smith-Magenis syndrome , where the proportion of males is ~50%), suggesting ... et al 2013 ] – is similar to that of Smith-Magenis syndrome , suggesting that Smith-Magenis syndrome and 16p12.2 ...
  8. Kleefstra Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK47079
    ... in contrast to the sleep disturbance observed in Smith-Magenis syndrome . Sleep disturbance in affected adolescents and young adults ... incl: Brachycephaly Protruding tongue Hypotonia Hypertelorism Midface retrusion Smith-Magenis syndrome Deletion or mutation of RAI1 on chromosome 17p11. ...
  9. Background - Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK310466
    ... Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, velocardiofacial syndrome, and Williams syndrome. For patients with ...
  10. Pitt-Hopkins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100240
    ... detection rate as compared to Williams syndrome and Smith-Magenis syndrome deletions, one laboratory estimated that the frequency of ... Gene Locus Links Similar articles in PubMed Review Smith-Magenis Syndrome. [GeneReviews(®). 1993] Review Smith-Magenis Syndrome. Smith ACM, ...
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