相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment
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IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia
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EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
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Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome
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Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain
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JOURNAL OF MEDICAL GENETICS (2006)
Hypomethylation of the h19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype
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AMERICAN JOURNAL OF HUMAN GENETICS (2006)
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AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2005)
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation:: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
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