Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
出版年份 2016 全文链接
标题
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 19, Issue 4, Pages 476-482
出版商
Springer Nature
发表日期
2016-09-15
DOI
10.1038/gim.2016.123
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。- Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
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- Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region
- (2015) Tracy A. Briggs et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation
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- Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
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- Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region
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- A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
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- The differentially methylated region ofMEG8is hypermethylated in patients with Temple syndrome
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- Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
- (2015) Louise E. Docherty et al. Nature Communications
- Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting
- (2015) Marta Sanchez-Delgado et al. PLoS Genetics
- Clinical features associated with copy number variations of the 14q32 imprinted gene cluster
- (2014) Jill A. Rosenfeld et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype
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- Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood
- (2014) Mariëlle Alders et al. European Journal of Medical Genetics
- Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment
- (2014) F. Court et al. GENOME RESEARCH
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- Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b
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