Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
出版年份 2014 全文链接
标题
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume 51, Issue 8, Pages 495-501
出版商
BMJ
发表日期
2014-06-03
DOI
10.1136/jmedgenet-2014-102396
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。- Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
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- Epigenotype-phenotype correlations in Silver-Russell syndrome
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- Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
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- Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype
- (2009) Kana Hosoki et al. JOURNAL OF PEDIATRICS
- Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia
- (2008) Anouck Schneider et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype
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- Prader–Willi syndrome
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- Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster
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- Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta
- (2008) Yoichi Sekita et al. NATURE GENETICS
- Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
- (2008) Masayo Kagami et al. NATURE GENETICS
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