Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care
about
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociExaminations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.Imprinting control regions (ICRs) are marked by mono-allelic bivalent chromatin when transcriptionally inactive.Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.New developments in Silver-Russell syndrome and implications for clinical practiceConstitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.
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Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care
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2015 թվականի մարտին հրատարակված գիտական հոդված
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2015年の論文
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Congenital imprinting disorder ...... e diagnostic and clinical care
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Congenital imprinting disorder ...... e diagnostic and clinical care
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type
label
Congenital imprinting disorder ...... e diagnostic and clinical care
@ast
Congenital imprinting disorder ...... e diagnostic and clinical care
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Congenital imprinting disorder ...... e diagnostic and clinical care
@ast
Congenital imprinting disorder ...... e diagnostic and clinical care
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Congenital imprinting disorder ...... e diagnostic and clinical care
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David Monk
Eamonn R Maher
Irène Netchine
Thomas Eggermann
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10.1186/S13148-015-0050-Z
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2015-03-14T00:00:00Z
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1039043610