Detection and Discrimination between Deletional and Non-Deletional Prader-Willi and Angelman Syndromes by Methylation-Specific PCR and Quantitative Melting Curve Analysis
Tài liệu tham khảo
Jiang, 1998, Imprinting in Angelman and Prader-Willi syndromes, Curr Opin Genet Dev, 8, 334, 10.1016/S0959-437X(98)80091-9
Nicholls, 1998, Imprinting in Prader-Willi and Angelman syndromes, Trends Genet, 14, 194, 10.1016/S0168-9525(98)01432-2
Diagnostic testing for Prader-Willi and Angleman syndromes, 1996, Report of the ASHG/ACMG Test and Technology Transfer Committee, Am J Hum Genet, 58, 1085
Zeschnigk, 1997, 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, 6, 387, 10.1093/hmg/6.3.387
Buller, 2000, Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes, Mol Diagn, 5, 239, 10.2165/00066982-200005030-00011
Kosaki, 1997, Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method, Am J Med Genet, 73, 308, 10.1002/(SICI)1096-8628(19971219)73:3<308::AID-AJMG15>3.0.CO;2-N
Kubota, 1997, Methylation-specific PCR simplifies imprinting analysis, Nat Genet, 16, 16, 10.1038/ng0597-16
Martinez, 2006, Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes, Genet Test, 10, 174, 10.1089/gte.2006.10.174
Bittel, 2007, Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities, Genet Test, 11, 467, 10.1089/gte.2007.0061
Nygren, 2005, Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences, Nucleic Acids Res, 33, e128, 10.1093/nar/gni127
Dikow, 2007, Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA, Mol Cell Probes, 21, 208, 10.1016/j.mcp.2006.12.002
White, 2006, Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome, Clin Chem, 52, 1005, 10.1373/clinchem.2005.065086
White, 2007, Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes, Clin Chem, 53, 1960, 10.1373/clinchem.2007.093351
Procter, 2006, Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification, Clin Chem, 52, 1276, 10.1373/clinchem.2006.067603
Worm, 2001, In-tube DNA methylation profiling by fluorescence melting curve analysis, Clin Chem, 47, 1183, 10.1093/clinchem/47.7.1183
Cardoso, 2003, Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p133, Am J Hum Genet, 72, 918, 10.1086/374320
Bi, 2009, Increased LIS1 expression affects human and mouse brain development, Nat Genet, 41, 168, 10.1038/ng.302