标题
Recurrence and variability of germline EPCAM deletions in Lynch syndrome
作者
关键词
-
出版物
HUMAN MUTATION
Volume 32, Issue 4, Pages 407-414
出版商
Wiley
发表日期
2011-01-19
DOI
10.1002/humu.21446
参考文献
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。- Structural Variation in the Human Genome and its Role in Disease
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- Germline Epigenetic Silencing of the Tumor Suppressor Gene PTPRJ in Early-Onset Familial Colorectal Cancer
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- EPCAM Germ Line Deletions as Causes of Lynch Syndrome in Spanish Patients
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- Transcription is required for establishment of germline methylation marks at imprinted genes
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- Germline hypermethylation ofMLH1andEPCAMdeletions are a frequent cause of Lynch syndrome
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- Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
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- Deletions removing the last exon ofTACSTD1constitute a distinct class of mutations predisposing to Lynch syndrome
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- Alu-Alurecombination underlies the vast majority of largeVHLgermline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients
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- Promoter targeted small RNAs induce long-term transcriptional gene silencing in human cells
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- Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
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- The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome
- (2008) Patrice Watson et al. INTERNATIONAL JOURNAL OF CANCER
- Epigenetic silencing of tumour suppressor gene p15 by its antisense RNA
- (2008) Wenqiang Yu et al. NATURE
- Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
- (2008) Marjolijn J L Ligtenberg et al. NATURE GENETICS
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