메뉴 건너뛰기




Volumn 128 A, Issue 3, 2004, Pages 305-310

Nonmosaic smallest duplication of 12q24.31-qter: The first reported case

Author keywords

Duplication 12qter; Subtelomere FISH

Indexed keywords

DNA;

EID: 3042761428     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30098     Document Type: Article
Times cited : (13)

References (13)
  • 1
    • 0019127876 scopus 로고
    • Duplication 12q mosaicism in two unrelated patients with a similar syndrome
    • Harrod MJ, Byrne JB, Dev VG, Francke U. 1980. Duplication 12q mosaicism in two unrelated patients with a similar syndrome. Am J Med Genet 7(2):123-129.
    • (1980) Am J Med Genet , vol.7 , Issue.2 , pp. 123-129
    • Harrod, M.J.1    Byrne, J.B.2    Dev, V.G.3    Francke, U.4
  • 2
    • 0018359501 scopus 로고
    • Partial trisomy 12q associated with a familial translocation
    • Hemming L, Brown R. 1979. Partial trisomy 12q associated with a familial translocation. Clin Genet 16(1):25-28.
    • (1979) Clin Genet , vol.16 , Issue.1 , pp. 25-28
    • Hemming, L.1    Brown, R.2
  • 3
    • 0016343955 scopus 로고
    • Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother
    • Hobolth N, Jacobsen P, Mikkelsen M. 1974. Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother. J Med Genet 11(3):299-303.
    • (1974) J Med Genet , vol.11 , Issue.3 , pp. 299-303
    • Hobolth, N.1    Jacobsen, P.2    Mikkelsen, M.3
  • 4
    • 0021676207 scopus 로고
    • A female infant with pure duplication 12q24.2-qter
    • Ieshima A, Yorita T, Ohta S, Kuroki Y. 1984. A female infant with pure duplication 12q24.2-qter. Jpn J Hum Genet 29:391-397.
    • (1984) Jpn J Hum Genet , vol.29 , pp. 391-397
    • Ieshima, A.1    Yorita, T.2    Ohta, S.3    Kuroki, Y.4
  • 7
    • 0021894019 scopus 로고
    • Duplication 12q24-qter in an infant with Dandy-Walker syndrome
    • MacDonald EA, Holden JJ. 1985. Duplication 12q24-qter in an infant with Dandy-Walker syndrome. J Neurogenet 2(2):123-129.
    • (1985) J Neurogenet , vol.2 , Issue.2 , pp. 123-129
    • MacDonald, E.A.1    Holden, J.J.2
  • 8
    • 0022454782 scopus 로고
    • Duplication (12q) syndrome in female cousins, resulting from maternal (11;12)(p15.5;q24.2) translocations
    • McCorquodale MM, Rolf J, Ruppert ES, Kurczynski TW, Kolacki P. 1986. Duplication (12q) syndrome in female cousins, resulting from maternal (11;12)(p15.5;q24.2) translocations. Am J Med Genet 24(4):613-622.
    • (1986) Am J Med Genet , vol.24 , Issue.4 , pp. 613-622
    • McCorquodale, M.M.1    Rolf, J.2    Ruppert, E.S.3    Kurczynski, T.W.4    Kolacki, P.5
  • 9
    • 0019835945 scopus 로고
    • Malformation syndrome of duplication 12q24.1 leads to qter
    • Melnyk AR, Weiss L, Van Dyke DL, Jarvi P. 1981. Malformation syndrome of duplication 12q24.1 leads to qter. Am J Med Genet 10(4):357-365.
    • (1981) Am J Med Genet , vol.10 , Issue.4 , pp. 357-365
    • Melnyk, A.R.1    Weiss, L.2    Van Dyke, D.L.3    Jarvi, P.4
  • 10
    • 0020505374 scopus 로고
    • Partial trisomy 12q: A clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q
    • Pratt NR, Bulugahapitiya DT. 1983. Partial trisomy 12q: A clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q. J Med Genet 20(2):86-89.
    • (1983) J Med Genet , vol.20 , Issue.2 , pp. 86-89
    • Pratt, N.R.1    Bulugahapitiya, D.T.2
  • 13
    • 0019831824 scopus 로고
    • Partial trisomy 12q
    • Zabel B, Baumann W. 1981. Partial trisomy 12q. J Med Genet 18(2):144-146.
    • (1981) J Med Genet , vol.18 , Issue.2 , pp. 144-146
    • Zabel, B.1    Baumann, W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.