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Title
Epigenetic and genetic diagnosis of Silver–Russell syndrome
Authors
Keywords
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Journal
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
Volume 12, Issue 5, Pages 459-471
Publisher
Informa UK Limited
Online
2012-06-18
DOI
10.1586/erm.12.43
References
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Related references
Note: Only part of the references are listed.- Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation
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- No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome
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- Beckwith-Wiedemann syndrome
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- Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
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- Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes
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- Epigenetic signatures of Silver-Russell syndrome
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- Hunting for the 5th base: Techniques for analyzing DNA methylation
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- Segmental maternal UPD(7q) in Silver-Russell syndrome
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- (2009) Sabrina Spengler et al. European Journal of Medical Genetics
- 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
- (2009) Salah Azzi et al. HUMAN MOLECULAR GENETICS
- Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
- (2009) S. Spengler et al. JOURNAL OF MEDICAL GENETICS
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- (2009) Esther Meyer et al. PLoS Genetics
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- (2008) Manuela Priolo et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
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- (2008) Sara Bruce et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
- (2008) D Bartholdi et al. JOURNAL OF MEDICAL GENETICS
- Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
- (2008) Deborah J G Mackay et al. NATURE GENETICS
- IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia
- (2007) Michael Zeschnigk et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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