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  1. Smith-Magenis Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1310
    ... et al 2000a , Potocki et al 2007 ]. Differential Diagnosis Smith-Magenis syndrome (SMS) should be distinguished from other syndromes that ... H, Girirajan S, Myers SM. Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax. Am J Med Genet ...
  2. Chromosome 17: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/chromosome/17
    ... gene accounts for many of the signs and symptoms of Smith-Magenis syndrome. All of the deletions known to cause this ... in the deleted region influences the signs and symptoms of Smith-Magenis syndrome. More About This Health Condition Yuan-Harel-Lupski ...
  3. RAI1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/rai1
    ... gene accounts for most of the signs and symptoms of Smith-Magenis syndrome. The major features of this condition include mild ...
  4. Smith-Magenis syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome
    ... known as "lick and flip"). Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine ( ... deleted region accounts for these additional signs and symptoms; the role of these genes is under study. ... 17 Inheritance Smith-Magenis syndrome is ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... flip").</html:p><html:p >Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine ( ...
  6. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... P, Vilboux T, Ciccone C, et al. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant. ...
  7. Excluded Studies - Medical Therapies for Children With Autism Spectrum Disorder—An Update - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK448263
    ... P, Vilboux T, Ciccone C, et al. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant. ...
  8. WAC-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK465012
    ... normal RAI1 testing prior to establishing the correct diagnosis. 4. Approximately 95% of individuals with Smith-Magenis syndrome have the disorder as a result of an ...
  9. Mucopolysaccharidosis Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546574
    ... AR = autosomal recessive; DD = developmental delay; DiffDx = differential diagnosis; ID = intellectual disability; ML = mucolipidosis; MOI = mode of inheritance; MPS = mucopolysaccharidosis; XL = X-linked 1. Smith-Magenis syndrome is caused either by a 17p11.2 deletion ...
  10. Potocki-Lupski Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK447920
    ... phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet. 2005; 14 :983–95. [ PubMed : 15746153 ] Bravo C, Gámez F, Pérez R, Águarón A, De León-Luis J. Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with ...
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