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Volumn 348, Issue 9034, 1996, Pages 1068-1069

Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SMALL NUCLEAR RIBONUCLEOPROTEIN;

EID: 0030593844     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(96)04342-5     Document Type: Article
Times cited : (32)

References (11)
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    • Holm, V.A.1    Cassidy, S.B.2    Butler, M.G.3
  • 2
    • 0026353331 scopus 로고
    • Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients
    • 2 Robinson WP, Bottani A, Xie YG, et al. Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 1991; 49: 1219-34.
    • (1991) Am J Hum Genet , vol.49 , pp. 1219-1234
    • Robinson, W.P.1    Bottani, A.2    Xie, Y.G.3
  • 3
    • 0027476507 scopus 로고
    • Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: An overview
    • 3 Knoll JH, Wagstaff J, Lalande M. Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview. Am J Med Genet 1993; 46: 2-6.
    • (1993) Am J Med Genet , vol.46 , pp. 2-6
    • Knoll, J.H.1    Wagstaff, J.2    Lalande, M.3
  • 4
    • 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
    • 4 Mutirangura A, Greenberg F, Butler MG, 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 1993; 2: 143-51.
    • (1993) Hum Mol Genet , vol.2 , pp. 143-151
    • Mutirangura, A.1    Greenberg, F.2    Butler, M.G.3
  • 5
    • 0026595355 scopus 로고
    • Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
    • 5 Dittrich B, Robinson WP, Knoblauch H, et al. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet 1992; 90: 313-15.
    • (1992) Hum Genet , vol.90 , pp. 313-315
    • Dittrich, B.1    Robinson, W.P.2    Knoblauch, H.3
  • 6
    • 0029867499 scopus 로고    scopus 로고
    • Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG test and technology transfer committee
    • 6 Diagnostic testing for Prader-Willi and Angelman syndromes: report of the ASHG/ACMG test and technology transfer committee. Am J Hum Genet 1996; 58: 1085-88.
    • (1996) Am J Hum Genet , vol.58 , pp. 1085-1088
  • 7
    • 0027026716 scopus 로고
    • Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
    • 7 Ozçelik T, Leff SE, Robinson WP, et al. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genet 1992; 2: 265-69.
    • (1992) Nature Genet , vol.2 , pp. 265-269
    • Ozçelik, T.1    Leff, S.E.2    Robinson, W.P.3
  • 9
    • 0028044579 scopus 로고
    • Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D 15S225E)
    • 9 Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D 15S225E). Hum Mol Genet 1994; 3: 309-15.
    • (1994) Hum Mol Genet , vol.3 , pp. 309-315
    • Nakao, M.1    Sutcliffe, J.S.2    Durtschi, B.3    Mutirangura, A.4    Ledbetter, D.H.5    Beaudet, A.L.6
  • 10
    • 0027937223 scopus 로고
    • Identification of a novel gene mutated in Wiskott-Aldrich syndrome
    • 10 Derry JMJ, Ochs HD, Francke U. Identification of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994; 78: 635-44.
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    • Derry, J.M.J.1    Ochs, H.D.2    Francke, U.3
  • 11
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    • Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
    • 11 Sutcliffe JS, Nakao M, Christian S, et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genet. 1994; 8: 52-58.
    • (1994) Nature Genet. , vol.8 , pp. 52-58
    • Sutcliffe, J.S.1    Nakao, M.2    Christian, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.