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Volumn 40, Issue 2, 2003, Pages 166-168

Low level of mosaicism in atypical Prader Willi syndrome: Detection using fluorescent in situ hybridization

Author keywords

FISH; Mosaicism; Prader Willi syndrome

Indexed keywords

ANGER; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME DELETION; CLINICAL FEATURE; CYTOGENETICS; FEMALE; FEMALE GENITAL TRACT MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPERPHAGIA; INDIA; INFANT; MOSAICISM; PRADER WILLI SYNDROME; WEIGHT GAIN;

EID: 0037330075     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (11)
  • 2
    • 0025181455 scopus 로고
    • Prader-Willi syndrome. Current understanding of cause and diagnosis
    • Butler MG. Prader-Willi syndrome. Current understanding of cause and diagnosis. Am J Med Genet 1990; 35: 319-332.
    • (1990) Am J Med Genet , vol.35 , pp. 319-332
    • Butler, M.G.1
  • 3
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader Willi Syndrome
    • Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader Willi Syndrome. Nature 1989; 16: 281-285.
    • (1989) Nature , vol.16 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.2    Butler, M.G.3    Karam, S.4    Lalande, M.5
  • 4
    • 0028209550 scopus 로고
    • Invited Editorial. New Insights reveals complex mechanisms involved in genomic imprinting
    • Nicholls RD. Invited Editorial. New Insights reveals complex mechanisms involved in genomic imprinting. Am J Hum Genet 1994; 54: 733-740.
    • (1994) Am J Hum Genet , vol.54 , pp. 733-740
    • Nicholls, R.D.1
  • 6
    • 0035041886 scopus 로고    scopus 로고
    • A novel MSPIDHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicism
    • Baumer A, Wiedemann U, Hergersberg M, Schinzel A. A novel MSPIDHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicism. Hum Mutat 2001; 17: 423-430.
    • (2001) Hum Mutat , vol.17 , pp. 423-430
    • Baumer, A.1    Wiedemann, U.2    Hergersberg, M.3    Schinzel, A.4
  • 8
    • 0031780504 scopus 로고    scopus 로고
    • Atypical molecular findings identify limits of technical screening tests for Prader Willi and Angleman syndrome diagnosis
    • Malzac P, Moncla A, Pedeillier K, Vo Van C, Girarodot L, Voelckel MA. Atypical molecular findings identify limits of technical screening tests for Prader Willi and Angleman syndrome diagnosis. Am J Med Genet 1998; 78:242-244.
    • (1998) Am J Med Genet , vol.78 , pp. 242-244
    • Malzac, P.1    Moncla, A.2    Pedeillier, K.3    Vo Van, C.4    Girarodot, L.5    Voelckel, M.A.6
  • 11
    • 0034676897 scopus 로고    scopus 로고
    • Mosaicism in Prader Willi syndrome
    • Nicholas RD. Mosaicism in Prader Willi syndrome. Am J Med Genet 2000; 90: 175-176.
    • (2000) Am J Med Genet , vol.90 , pp. 175-176
    • Nicholas, R.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.