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Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification

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참고문헌 (15)

  1. Smith AC, "Interstitial deletion of (17)(p11.2p11.2) in nine patients", Am J Med Genet, 24, pp.393~414 (1986)[DOI]
  2. Seranski P, "RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients", Gene, 270, pp.69~76 (2001)[DOI]
  3. Greenberg F, "Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2)", Am J Hum Genet, 49, pp.1207~1218 (1991)
  4. Acquaviva F, "First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation", Am J Med Genet A, 173, pp.231~238 (2017)[DOI]
  5. De Leersnyder H, "Smith-Magenis syndrome", Handb Clin Neurol, 111, pp.295~296 (2013)
  6. 석정호, "팔로사징후를 동반한 Smith-Magenis증후군 환아 2예: SMS에서 FISH검사의 진단적 의의", Annals of Laboratory Medicine, 25(5), pp.361~364 (2005), 대한진단검사의학회
  7. 정성관, "Two cases of Smith-Magenis syndrome", Clinical and Experimental Pediatrics, 52(6), pp.701~704 (2009), 대한소아청소년과학회
  8. 이차곤, "Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome", Journal of Korean Medical Science, 27(12), pp.1586~1590 (2012), 대한의학회
  9. 김성은, "A Case of Smith–Magenis Syndrome with Multiple Organ Malformations", Neonatal medicine, 24(1), pp.49~52 (2017), 대한신생아학회
  10. Allanson JE, "The face of Smith-Magenis syndrome: a subjective and objective study", J Med Genet, 36, pp.394~397 (1999)
  11. Vilboux T, "Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion", PLoS One, 6, pp.e22861~ (2011)[DOI]
  12. Belligni EF, "Subtelomeric FISH analysis in 76 patients with syndromic developmental delay", intellectual disability, 2009, pp.35, 9~
  13. Jehee FS, "Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries", Eur J Med Genet, 54, pp.e425~e432 (2011)[DOI]
  14. Miller DT, "Consensus statement: chromosomal microarray is a rst-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies", Am J Hum Genet, 86, pp.749~764 (2010)[DOI]
  15. Regier DA, "Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability", Am J Hum Genet, 86, pp.765~772 (2010)[DOI]

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