메뉴 건너뛰기




Volumn 271, Issue 1, 1998, Pages 89-96

Molecular genetic analysis of the Prader-Willi syndrome by using fluorescent multiplex PCR of the dinucleotide repeats on chromosome 15q11- q13

Author keywords

(CA)(n) dinucleotide repeat polymorphisms; Chromosome 15; Deletion; Maternal uniparental disomy; Prader Willi syndrome

Indexed keywords

DINUCLEOTIDE; DNA;

EID: 0344863088     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(97)00238-6     Document Type: Article
Times cited : (5)

References (18)
  • 1
  • 2
    • 0025181455 scopus 로고
    • Prader-Willi syndrome: Current understanding of cause and diagnosis
    • Butler M.G. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet. 35:1990;319-332.
    • (1990) Am J Med Genet , vol.35 , pp. 319-332
    • Butler, M.G.1
  • 3
    • 0030032692 scopus 로고    scopus 로고
    • DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region
    • Mowery Rushton P.A., Driscoll D.J., Nicholls R.D., Locker J., Surti U. DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region. Am J Med Genet. 61:1996;140-146.
    • (1996) Am J Med Genet , vol.61 , pp. 140-146
    • Mowery Rushton, P.A.1    Driscoll, D.J.2    Nicholls, R.D.3    Locker, J.4    Surti, U.5
  • 4
    • 0028289468 scopus 로고
    • Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome
    • Reed M.I., Leff S.E. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nat Genet. 6:1994;163-167.
    • (1994) Nat Genet , vol.6 , pp. 163-167
    • Reed, M.I.1    Leff, S.E.2
  • 5
    • 0028133293 scopus 로고
    • Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
    • Sutcliffe J.S., Nakao M., Christian S.et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet. 8:1994;52-58.
    • (1994) Nat Genet , vol.8 , pp. 52-58
    • Sutcliffe, J.S.1    Nakao, M.2    Christian, S.3
  • 6
    • 0028124726 scopus 로고
    • Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
    • Wevrick R., Kerns J.A., Francke U. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet. 3:1994;1877-1882.
    • (1994) Hum Mol Genet , vol.3 , pp. 1877-1882
    • Wevrick, R.1    Kerns, J.A.2    Francke, U.3
  • 7
    • 0029778098 scopus 로고    scopus 로고
    • Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region
    • Ning Y., Roschke A., Christian S.L., Lesser J., Sutcliffe J.S., Ledbetter D.H. Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region. Genome Res. 6:1996;742-746.
    • (1996) Genome Res , vol.6 , pp. 742-746
    • Ning, Y.1    Roschke, A.2    Christian, S.L.3    Lesser, J.4    Sutcliffe, J.S.5    Ledbetter, D.H.6
  • 8
    • 16044365355 scopus 로고    scopus 로고
    • Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations
    • Saitoh S., Buiting K., Rogan P.K.et al. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci USA. 93:1996;7811-7815.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 7811-7815
    • Saitoh, S.1    Buiting, K.2    Rogan, P.K.3
  • 9
    • 0031228039 scopus 로고    scopus 로고
    • The Angelman syndrome candidate gene, UBE3A/E6 AP, is imprinted in brain
    • Rougeulle C., Glatt H., Lalande M. The Angelman syndrome candidate gene, UBE3A/E6 AP, is imprinted in brain. Nat Genet. 17:1997;14-15.
    • (1997) Nat Genet , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 10
    • 0024397019 scopus 로고
    • Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome
    • Nicholls R.D., Knoll J.H., Glatt K.et al. Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet. 33:1989;66-77.
    • (1989) Am J Med Genet , vol.33 , pp. 66-77
    • Nicholls, R.D.1    Knoll, J.H.2    Glatt, K.3
  • 11
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome
    • Nicholls R.D., Knoll J.H., Butler M.G., Karam S., Ialande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 342:1989;281-285.
    • (1989) Nature , vol.342 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.2    Butler, M.G.3    Karam, S.4    Ialande, M.5
  • 12
    • 0029867499 scopus 로고    scopus 로고
    • Diagnostic Testing For Prader Willi and Angelman Syndromes: Report of the Ashc/Acmc Test and Technology Transfer Committee
    • Cassidy S.B., Beaudet A.L., Knoll J.H.M.et al. Diagnostic Testing For Prader Willi and Angelman Syndromes: Report of the Ashc/Acmc Test and Technology Transfer Committee. Am J Hum Genet. 58:1996;1085-1088.
    • (1996) Am J Hum Genet , vol.58 , pp. 1085-1088
    • Cassidy, S.B.1    Beaudet, A.L.2    Knoll, J.H.M.3
  • 14
    • 0023135272 scopus 로고
    • Adults with Prader-Willi syndrome: A survey of 232 cases
    • Greenswag L.R. Adults with Prader-Willi syndrome: a survey of 232 cases. Dev Med Child Neurol. 29:1987;145-152.
    • (1987) Dev Med Child Neurol , vol.29 , pp. 145-152
    • Greenswag, L.R.1
  • 16
    • 0030159846 scopus 로고    scopus 로고
    • Prader-Willi syndrome: Clinical and molecular cytogenetic investigations
    • Hou J.W., Wang T.R. Prader-Willi syndrome: clinical and molecular cytogenetic investigations. J Formos Med Assoc. 95:1996;474-479.
    • (1996) J Formos Med Assoc , vol.95 , pp. 474-479
    • Hou, J.W.1    Wang, T.R.2
  • 17
    • 0027473988 scopus 로고
    • Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy
    • Mutirangura A., Greenberg F., Butler M.G.et al. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet. 2:1993;143-151.
    • (1993) Hum Mol Genet , vol.2 , pp. 143-151
    • Mutirangura, A.1    Greenberg, F.2    Butler, M.G.3
  • 18
    • 0028231090 scopus 로고
    • The 1993-94 Généthon human genetic linkage map
    • Gyapay G., Morissette J., Vignal A.et al. The 1993-94 Généthon human genetic linkage map. Nat Genet. 7:1994;246-339.
    • (1994) Nat Genet , vol.7 , pp. 246-339
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.