메뉴 건너뛰기




Volumn 11, Issue 3, 2007, Pages 321-327

Comparing two diagnostic laboratory tests for Williams syndrome: Fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 7Q; COMPARATIVE STUDY; DIAGNOSTIC TEST; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MALE; WILLIAMS BEUREN SYNDROME;

EID: 35348939636     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0007     Document Type: Article
Times cited : (15)

References (38)
  • 5
    • 0022521057 scopus 로고
    • Williams syndrome
    • Burn J (1986) Williams syndrome. J Med Genet 23:389-395.
    • (1986) J Med Genet , vol.23 , pp. 389-395
    • Burn, J.1
  • 6
    • 0035347047 scopus 로고    scopus 로고
    • American Academy of Pediatrics: Health care supervision for children with Williams syndrome
    • Committee on Genetics
    • Committee on Genetics (2001) American Academy of Pediatrics: health care supervision for children with Williams syndrome. Pediatrics 107:1192-1204.
    • (2001) Pediatrics , vol.107 , pp. 1192-1204
  • 10
    • 0038502072 scopus 로고    scopus 로고
    • Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion
    • Gagliardi C, Bonaglia MC, Selicorni A, Borgatti R, Giorda R (2003) Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion. J Med Genet 40:526-530.
    • (2003) J Med Genet , vol.40 , pp. 526-530
    • Gagliardi, C.1    Bonaglia, M.C.2    Selicorni, A.3    Borgatti, R.4    Giorda, R.5
  • 16
  • 18
    • 33846329439 scopus 로고    scopus 로고
    • MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions
    • Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T (2007) MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J Med Genet 50:33-42.
    • (2007) Eur J Med Genet , vol.50 , pp. 33-42
    • Kirchhoff, M.1    Bisgaard, A.M.2    Bryndorf, T.3    Gerdes, T.4
  • 21
    • 31344454175 scopus 로고    scopus 로고
    • Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications
    • Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJ, den Dunnen JT, Breuning MH (2006) Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet 14:180-189.
    • (2006) Eur J Hum Genet , vol.14 , pp. 180-189
    • Kriek, M.1    White, S.J.2    Szuhai, K.3    Knijnenburg, J.4    van Ommen, G.J.5    den Dunnen, J.T.6    Breuning, M.H.7
  • 22
    • 11244305879 scopus 로고    scopus 로고
    • Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype
    • Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA (2005) Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. Am J Med Genet A 132:93-100.
    • (2005) Am J Med Genet A , vol.132 , pp. 93-100
    • Lichtenbelt, K.D.1    Hochstenbach, R.2    van Dam, W.M.3    Eleveld, M.J.4    Poot, M.5    Beemer, F.A.6
  • 23
    • 34547664096 scopus 로고    scopus 로고
    • Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
    • Lupski JR, Stankiewicz P (2005) Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49.
    • (2005) PLoS Genet , vol.1
    • Lupski, J.R.1    Stankiewicz, P.2
  • 24
    • 0031794713 scopus 로고    scopus 로고
    • Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes
    • Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT (1998) Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Hum Genet 103:590-599.
    • (1998) Hum Genet , vol.103 , pp. 590-599
    • Meng, X.1    Lu, X.2    Li, Z.3    Green, E.D.4    Massa, H.5    Trask, B.J.6    Morris, C.A.7    Keating, M.T.8
  • 27
    • 35348930117 scopus 로고    scopus 로고
    • Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization
    • Osborne LR, Joseph-George AM, Scherer SW (2006) Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization. Methods Mol Med 126:113-128.
    • (2006) Methods Mol Med , vol.126 , pp. 113-128
    • Osborne, L.R.1    Joseph-George, A.M.2    Scherer, S.W.3
  • 29
    • 34447304969 scopus 로고    scopus 로고
    • Williams-Beuren syndrome: Determination of deletion size using quantitative real-time PCR
    • Schubert C, Laccone F (2006) Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR. Int J Mol Med 18:799-806.
    • (2006) Int J Mol Med , vol.18 , pp. 799-806
    • Schubert, C.1    Laccone, F.2
  • 30
    • 35348944099 scopus 로고    scopus 로고
    • A two step clinical score for Williams syndrome: Application to 27 new cases
    • Selicorni A (1996) A two step clinical score for Williams syndrome: application to 27 new cases. Eur J Hum Genet 4 (Suppl 1):133.
    • (1996) Eur J Hum Genet , vol.4 , Issue.SUPPL. 1 , pp. 133
    • Selicorni, A.1
  • 32
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82.
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 35
    • 33646066566 scopus 로고    scopus 로고
    • Williams-Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development
    • Tassabehji M, Donnai D (2006) Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development. Eur J Hum Genet 14:507-508.
    • (2006) Eur J Hum Genet , vol.14 , pp. 507-508
    • Tassabehji, M.1    Donnai, D.2
  • 36
    • 33947217224 scopus 로고    scopus 로고
    • Van Hagen JM, van der Geest JN, van der Giessen RS, Lagers-van Haselen GC, Eussen HJFMM, Gille JJ, Govaerts LCP, Wouters CH, de Coo IFM, Hoogenraad CC, Koekkoek SKE, Frens MA, van Camp N, van der Linden A, Jansweijer MCE, Thorgeirsson SS, De Zeeuw CI (2007) Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams syndrome. Neurobiol Dis 26:112-124.
    • Van Hagen JM, van der Geest JN, van der Giessen RS, Lagers-van Haselen GC, Eussen HJFMM, Gille JJ, Govaerts LCP, Wouters CH, de Coo IFM, Hoogenraad CC, Koekkoek SKE, Frens MA, van Camp N, van der Linden A, Jansweijer MCE, Thorgeirsson SS, De Zeeuw CI (2007) Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams syndrome. Neurobiol Dis 26:112-124.
  • 37
    • 33746945477 scopus 로고    scopus 로고
    • MLPA: A rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q
    • Vorstman JA, Jalali GR, Rappaport EF, Hacker AM, Scott C, Emanuel BS (2006) MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Hum Mutat 27:814-821.
    • (2006) Hum Mutat , vol.27 , pp. 814-821
    • Vorstman, J.A.1    Jalali, G.R.2    Rappaport, E.F.3    Hacker, A.M.4    Scott, C.5    Emanuel, B.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.