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  1. 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 ...
  2. 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 : ...
  3. 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 ...
  4. 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 ...
  5. 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. ...
  6. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Disorders Jet Lag Syndrome Sleep Disorders, Circadian Rhythm Smith-Magenis Syndrome Cranial Nerve Diseases Abducens Nerve Diseases Abducens Nerve ... Syndrome Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome ... Trichothiodystrophy Syndromes Waardenburg Syndrome Weill-Marchesani ...
  7. 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 ...
  8. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 800 Sleep Disorders, Circadian Rhythm C10.281.900 Smith-Magenis Syndrome C10.292 Cranial Nerve Diseases C10.292.150 ... Smith-Lemli-Opitz Syndrome C16.131.077.879 Smith-Magenis Syndrome C16.131.077.889 Sotos Syndrome C16.131. ...
  9. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... 800...........................................Sleep Disorders, Circadian Rhythm C10.281.900...........................................Smith-Magenis Syndrome C10.292...........................................Cranial Nerve Diseases C10.292.150........................................... ...
  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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