A C Smith

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2)
    A C Smith
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1267, USA
    Am J Med Genet 81:179-85. 1998
  2. ncbi request reprint Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2)
    A C Smith
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1267, USA
    Am J Med Genet 81:186-91. 1998
  3. ncbi request reprint Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
    N Liburd
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2A 015, Rockville, MD 20850, USA
    Hum Genet 109:535-41. 2001

Collaborators

Detail Information

Publications3

  1. ncbi request reprint Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2)
    A C Smith
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1267, USA
    Am J Med Genet 81:179-85. 1998
    ..This information should have relevance for parents, clinicians, geneticists, and educators involved in the care of individuals with SMS...
  2. ncbi request reprint Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2)
    A C Smith
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1267, USA
    Am J Med Genet 81:186-91. 1998
    ..Medication to facilitate sleep was used by 59% of SMS subjects. Possible etiologic mechanisms of sleep disturbance in SMS are discussed, as are recommended interventions...
  3. ncbi request reprint Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
    N Liburd
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2A 015, Rockville, MD 20850, USA
    Hum Genet 109:535-41. 2001
    ..In addition, one hemizygous missense mutation of MYO15A was found in one of eight Smith-Magenis syndrome (del(17)p11.2) patients from North America who had moderately severe sensorineural hearing loss...