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Volumn 13, Issue 1, 2011, Pages 108-112

Allelic dropout can cause false-positive results for prader-willi and Angelman syndrome testing

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DNA POLYMORPHISM; FALSE POSITIVE RESULT; FEMALE; GENE; GENE LOCUS; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HUMAN; MOLECULAR DIAGNOSIS; PRADER WILLI SYNDROME; PRESCHOOL CHILD; SNRPN GENE; SOUTHERN BLOTTING;

EID: 78651087384     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2010.11.006     Document Type: Article
Times cited : (16)

References (16)
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    • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
    • Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B: Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 1995, 9:395-400
    • (1995) Nat Genet , vol.9 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Gross, S.3    Dittrich, B.4    Schwartz, S.5    Nicholls, R.D.6    Horsthemke, B.7
  • 3
    • 49449111926 scopus 로고    scopus 로고
    • Mechanisms of imprinting of the Prader- Willi/Angelman region
    • Horsthemke B, Wagstaff J: Mechanisms of imprinting of the Prader- Willi/Angelman region. Am J Med Genet A 2008, 146A:2041-2052
    • (2008) Am J Med Genet A , vol.146 A , pp. 2041-2052
    • Horsthemke, B.1    Wagstaff, J.2
  • 6
    • 0031051145 scopus 로고    scopus 로고
    • Imprinted segments in the human genome: Different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method
    • Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W: Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. Hum Mol Genet 1997, 6:387-395
    • (1997) Hum Mol Genet , vol.6 , pp. 387-395
    • Zeschnigk, M.1    Schmitz, B.2    Dittrich, B.3    Buiting, K.4    Horsthemke, B.5    Doerfler, W.6
  • 8
    • 84995191751 scopus 로고
    • 'Puppet children': A report of three cases
    • Angelman H: 'Puppet children': a report of three cases. Dev Med Child Neurol 1965, 7:681-688
    • (1965) Dev Med Child Neurol , vol.7 , pp. 681-688
    • Angelman, H.1
  • 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 1997, 17:14-15
    • (1997) Nat Genet , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 10
  • 15
    • 0016700864 scopus 로고
    • Detection of specific sequences among DNA fragments separated by gel electrophoresis
    • Southern EM: Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975, 98:503-517
    • (1975) J Mol Biol , vol.98 , pp. 503-517
    • Southern, E.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.