Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
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Regulatory links between imprinted genes: evolutionary predictions and consequencesAsymmetric DNA methylation of CpG dyads is a feature of secondary DMRs associated with the Dlk1/Gtl2 imprinting cluster in mouseEpigenetic Characterization of CDKN1C in Placenta Samples from Non-syndromic Intrauterine Growth Restriction.Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeEMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes.New Perspectives on Genomic Imprinting, an Essential and Multifaceted Mode of Epigenetic Control in the Developing and Adult Brain.The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.Recent Advances in Imprinting Disorders.Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation.Hypermethylation of the non-imprinted maternal MEG3 and paternal MEST alleles is highly variable among normal individuals.Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.Genomic imprinting, disrupted placental expression, and speciation.Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.Mouse Parthenogenetic Embryonic Stem Cells with Biparental-Like Expression of Imprinted Genes Generate Cortical-Like Neurons That Integrate into the Injured Adult Cerebral Cortex.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.Maternal 5mCpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues.Genomic Imprinting and the Regulation of Postnatal Neurogenesis.Snord116-dependent diurnal rhythm of DNA methylation in mouse cortex.The discovery and importance of genomic imprinting
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P2860
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
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2015年の論文
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2015年論文
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2015年論文
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name
Imprinting disorders: a group ...... anges affecting imprinted loci
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Imprinting disorders: a group ...... anges affecting imprinted loci
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Imprinting disorders: a group ...... anges affecting imprinted loci
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type
label
Imprinting disorders: a group ...... anges affecting imprinted loci
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Imprinting disorders: a group ...... anges affecting imprinted loci
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Imprinting disorders: a group ...... anges affecting imprinted loci
@nl
prefLabel
Imprinting disorders: a group ...... anges affecting imprinted loci
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Imprinting disorders: a group ...... anges affecting imprinted loci
@en
Imprinting disorders: a group ...... anges affecting imprinted loci
@nl
P2093
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Imprinting disorders: a group ...... anges affecting imprinted loci
@en
P2093
David Monk
Eamonn R Maher
Irène Netchine
Thomas Eggermann
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P2888
P3181
P356
10.1186/S13148-015-0143-8
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P50
P577
2015-01-01T00:00:00Z
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P6179
1023889394