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38 results
  1. ... 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. ... published></health-condition-summary><health-condition-summary ><name >Smith-Magenis syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  3. ... children 3 years of age and older with Smith-Magenis Syndrome (SMS; a developmental disorder). Tasimelteon is in a ...
  4. ... 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 : ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... 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. ...
  8. ... Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, velocardiofacial syndrome, and Williams syndrome. For patients with ...
  9. ... 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 ...
  10. ... CrossRef ] 3636. 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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