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Volumn 10, Issue 4, 2008, Pages 485-488

Diagnosis of Prader-Willi syndrome by methylation-specific PCR

Author keywords

Child; Diagnosis; Methylation specific PCR; Prader Willi syndrome

Indexed keywords

GENOMIC DNA;

EID: 50249126526     PISSN: 10088830     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (13)
  • 2
    • 0035515362 scopus 로고    scopus 로고
    • The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria[J]
    • Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria[J]. Pediatrics, 2001, 108 (5): E92.
    • (2001) Pediatrics , vol.108 , Issue.5
    • Gunay-Aygun, M.1    Schwartz, S.2    Heeger, S.3    O'Riordan, M.A.4    Cassidy, S.B.5
  • 3
    • 41049091716 scopus 로고    scopus 로고
    • Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region[J]
    • Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, et al. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region[J]. BMC Genomics, 2008, 9: 50.
    • (2008) BMC Genomics , vol.9 , pp. 50
    • Jiang, Y.H.1    Wauki, K.2    Liu, Q.3    Bressler, J.4    Pan, Y.5    Kashork, C.D.6
  • 4
    • 50249182092 scopus 로고    scopus 로고
    • Scoliosis in Prader-Willi syndrome: Prevalence, effects of age, gender, body mass index, lean body mass and genotype [J]
    • Feb 8, Epub ahead of print
    • de Lind van Wijngaarden RF, de Klerk LW, Festen DA, Hokken-Koelega AC. Scoliosis in Prader-Willi syndrome: Prevalence, effects of age, gender, body mass index, lean body mass and genotype [J]. Arch Dis Child, 2008 Feb 8. [Epub ahead of print]
    • (2008) Arch Dis Child
    • de Lind van Wijngaarden, R.F.1    de Klerk, L.W.2    Festen, D.A.3    Hokken-Koelega, A.C.4
  • 5
    • 0032076307 scopus 로고    scopus 로고
    • Imprinting in Prader-Willi and Angelman syndrome [J]
    • Nicholls RD, Saitoh S, Horsthemke B. Imprinting in Prader-Willi and Angelman syndrome [J]. Trends Genet, 1998, 14(5): 194-200.
    • (1998) Trends Genet , vol.14 , Issue.5 , pp. 194-200
    • Nicholls, R.D.1    Saitoh, S.2    Horsthemke, B.3
  • 6
    • 0034431527 scopus 로고    scopus 로고
    • Genomic imprinting: Genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman syndromes [J]
    • Fridman C, Koiffmann CP. Genomic imprinting: genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman syndromes [J]. Genet Mol Biol, 2000, 23(4): 715-724.
    • (2000) Genet Mol Biol , vol.23 , Issue.4 , pp. 715-724
    • Fridman, C.1    Koiffmann, C.P.2
  • 9
    • 50249178055 scopus 로고    scopus 로고
    • Keder L, Butler MG. The genetics of Prader-Willi syndrome: an explanation for the rest of Us, March-May 2000 [DB/0L]. Revised and updated in July 2004. [2005]. http://www.pwsausa.org/syndrome/ Geneties_of_PWS.htm.
    • Keder L, Butler MG. The genetics of Prader-Willi syndrome: an explanation for the rest of Us, March-May 2000 [DB/0L]. Revised and updated in July 2004. [2005]. http://www.pwsausa.org/syndrome/ Geneties_of_PWS.htm.
  • 11
    • 0030665282 scopus 로고    scopus 로고
    • Prader-Willi and Angelman syndrome: Diagnosis with a bisulfite-treated methylation-specific PCR method [J]
    • Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL. Prader-Willi and Angelman syndrome: diagnosis with a bisulfite-treated methylation-specific PCR method [J]. Am J Med Genet, 1997, 73 (3): 308-313.
    • (1997) Am J Med Genet , vol.73 , Issue.3 , pp. 308-313
    • Kosaki, K.1    McGinniss, M.J.2    Veraksa, A.N.3    McGinnis, W.J.4    Jones, K.L.5
  • 12
    • 0034033229 scopus 로고    scopus 로고
    • DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting [J]
    • Glenn CC, Deng G, Michaelis RC, Tarleton J, Phelan MC, Surh L, et al. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting [J]. Prenat Diagn, 2000, 20(4): 300-306.
    • (2000) Prenat Diagn , vol.20 , Issue.4 , pp. 300-306
    • Glenn, C.C.1    Deng, G.2    Michaelis, R.C.3    Tarleton, J.4    Phelan, M.C.5    Surh, L.6
  • 13
    • 0030761243 scopus 로고    scopus 로고
    • Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, et al. Balanced translocation 46, XY, t(2; 15) (q37.2; q11.2) associated with atypical Prader-Willi syndrome [J]. Am J Hum Genet, 1997, 61 (2): 388-394.
    • Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, et al. Balanced translocation 46, XY, t(2; 15) (q37.2; q11.2) associated with atypical Prader-Willi syndrome [J]. Am J Hum Genet, 1997, 61 (2): 388-394.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.