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Volumn 138 A, Issue 2, 2005, Pages 181-184

Mosaicism of proximal 15q duplication/deletion resulting in Prader-Willi syndrome with normal methylation [1]

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; LETTER; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

EID: 25644436435     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30819     Document Type: Letter
Times cited : (4)

References (11)
  • 3
    • 0021324098 scopus 로고
    • Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis
    • Mattel MG, Souiah N, Mattei JF. 1984. Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis. Hum Genet 66(4):313-334.
    • (1984) Hum Genet , vol.66 , Issue.4 , pp. 313-334
    • Mattel, M.G.1    Souiah, N.2    Mattei, J.F.3
  • 5
    • 0242607218 scopus 로고    scopus 로고
    • Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity
    • Roberts SE, Maggouta F, Thomas NS, Jacobs PA, Crolla JA. 2003. Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. Am J Hum Genet 73:1061-1072.
    • (2003) Am J Hum Genet , vol.73 , pp. 1061-1072
    • Roberts, S.E.1    Maggouta, F.2    Thomas, N.S.3    Jacobs, P.A.4    Crolla, J.A.5
  • 7
    • 0018942685 scopus 로고
    • Nonrandom distribution of exchange points in patients with reciprocal translocations
    • Stoll C. 1980. Nonrandom distribution of exchange points in patients with reciprocal translocations. Hum Genet 56:89-93.
    • (1980) Hum Genet , vol.56 , pp. 89-93
    • Stoll, C.1
  • 8
    • 33646219748 scopus 로고    scopus 로고
    • Downers Grove, IL: Vysis, Inc.
    • Vysis Product Catalog. 2004. Downers Grove, IL: Vysis, Inc.
    • (2004) Vysis Product Catalog
  • 9
    • 0031946990 scopus 로고    scopus 로고
    • Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15
    • Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S. 1998. Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J Hum Genet 62:925-936.
    • (1998) Am J Hum Genet , vol.62 , pp. 925-936
    • Wandstrat, A.E.1    Leana-Cox, J.2    Jenkins, L.3    Schwartz, S.4
  • 10
    • 0020412710 scopus 로고
    • A 15?1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11)
    • Wulfsberg EA, Sparkes RS, Klisak IJ, Gurfield WB. 1982. A 15?1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11). Am J Med Genet 13:417-421.
    • (1982) Am J Med Genet , vol.13 , pp. 417-421
    • Wulfsberg, E.A.1    Sparkes, R.S.2    Klisak, I.J.3    Gurfield, W.B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.