메뉴 건너뛰기




Volumn 26, Issue 5, 2009, Pages 495-498

A study on genetic diagnosis for Angelman syndrome

Author keywords

Angelman syndrome; Methylation specific PCR; Short tandem repeat

Indexed keywords

ARTICLE; CHROMOSOME 15Q; CHROMOSOME DELETION; CLINICAL ARTICLE; GENETIC ASSOCIATION; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HUMAN; METHYLATION SPECIFIC POLYMERASE CHAIN REACTION; POLYMERASE CHAIN REACTION; SHORT TANDEM REPEAT;

EID: 70350731083     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2009.05.003     Document Type: Article
Times cited : (5)

References (8)
  • 1
    • 34247097430 scopus 로고    scopus 로고
    • Biomedicine & Disease: Review molecular epigenetics of Angelman syndrome
    • Lalande M, Calciano MA. Biomedicine & Disease: review molecular epigenetics of Angelman syndrome. Cell Mol Life Sci, 2007, 64: 947-960.
    • (2007) Cell Mol Life Sci , vol.64 , pp. 947-960
    • Lalande, M.1    Calciano, M.A.2
  • 3
    • 33644865491 scopus 로고    scopus 로고
    • Summers and Joseph Wagstaff. Angelman syndrome 2005: Updated consensus for diagnostic criteria
    • Williams CA, Beaudet AL, Smith JC, et al. Summers and Joseph Wagstaff. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A, 2006, 140: 413-418.
    • (2006) Am J Med Genet A , vol.140 , pp. 413-418
    • Williams, C.A.1    Beaudet, A.L.2    Smith, J.C.3
  • 4
    • 0031133081 scopus 로고    scopus 로고
    • Methylation-specific PCR simplifies imprinting analysis
    • Kubota T, Das S, Christian SL, et al. Methylation-specific PCR simplifies imprinting analysis. Nat Genet, 1997, 16: 16-17.
    • (1997) Nat Genet , vol.16 , pp. 16-17
    • Kubota, T.1    Das, S.2    Christian, S.L.3
  • 5
    • 0032971379 scopus 로고    scopus 로고
    • Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
    • Christian SL, Fantes JA, Mewborn SK, et al. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet, 1999, 8: 1025-1037.
    • (1999) Hum Mol Genet , vol.8 , pp. 1025-1037
    • Christian, S.L.1    Fantes, J.A.2    Mewborn, S.K.3
  • 6
    • 0028969404 scopus 로고
    • Angelman syndromes: Consensus for diagnostic criteria
    • Williams CA, Angelman H, Clayton-Smith J, et al. Angelman syndromes: Consensus for diagnostic criteria. Am J Med Genet, 1995, 56: 237-238.
    • (1995) Am J Med Genet , vol.56 , pp. 237-238
    • Williams, C.A.1    Angelman, H.2    Clayton-Smith, J.3
  • 7
    • 70350723508 scopus 로고    scopus 로고
    • A case of Angelman syndrome complicated with oculocutaneous albimism
    • Li HY, Zheng H. A case of Angelman syndrome complicated with oculocutaneous albimism. Chin J Pediatr, 2005, 43: 635-636.
    • (2005) Chin J Pediatr , vol.43 , pp. 635-636
    • Li, H.Y.1    Zheng, H.2
  • 8
    • 77954946324 scopus 로고    scopus 로고
    • Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome
    • Li MR, Wang XZ, Liu XY, et al. Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome. Natl Med J China, 2008, 88: 3257-3261.
    • (2008) Natl Med J China , vol.88 , pp. 3257-3261
    • Li, M.R.1    Wang, X.Z.2    Liu, X.Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.