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  1. Smith-Magenis Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1310
    ... Search term GeneReviews Advanced Search Help < Prev Next > Smith-Magenis Syndrome Synonym: del(17)(p11.2) Ann CM Smith , ... Smith-Magenis syndrome Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS) Phone: 972-231-0035 www.prisms.org ...
  2. Smith-Magenis syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome
    ... more about the gene and chromosome associated with Smith-Magenis syndrome RAI1 chromosome 17 Inheritance Smith-Magenis syndrome is ...
  3. RAI1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/rai1
    ... Potocki-Lupski syndrome. More About This Health Condition Smith-Magenis syndrome Researchers believe that a partial or total loss ... for most of the signs and symptoms of Smith-Magenis syndrome. The major features of this condition include mild ...
  4. 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 ...
  5. MedlinePlus Drug Information: Tasimelteon 
    https://medlineplus.gov/druginfo/meds/a615004.html
    ... children 3 years of age and older with Smith-Magenis Syndrome (SMS; a developmental disorder). Tasimelteon is in a ...
  6. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Smith-Magenis syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  7. Potocki-Lupski Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK447920
    ... duplication is the reciprocal recombination product of the Smith-Magenis syndrome (SMS) deletion; therefore, this region has been represented ... phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet. 2005; 14 :983–95. [ PubMed : ...
  8. 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 ...
  9. 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 ...
  10. 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. ...
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