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27 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. 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. 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; ...
  4. BCL11A-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK547048
    ... Differential Diagnosis Management Genetic Counseling Resources Molecular ... Review Smith-Magenis Syndrome [GeneReviews ® . 1993] Review Smith-Magenis Syndrome Smith ACM, ...
  5. SATB2-Associated Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK458647
    ... Differential Diagnosis Management Genetic Counseling Resources Molecular ... Review Smith-Magenis Syndrome [GeneReviews ® . 1993] Review Smith-Magenis Syndrome Smith ACM, ...
  6. 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 ... problems. Most often, the chromosome segment deleted in Smith-Magenis syndrome is the same one that is duplicated in ...
  7. 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 ...
  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. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... CrossRef ] 3680. Klukowski M, Wasilewska J, Lebensztejn D. Smith-Magenis syndrome and its circadian influence on development, behavior, and ... C. Differences in social motivation in children with Smith–Magenis syndrome and Down syndrome. Journal of Autism and Developmental ...
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