Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders. - Wikidata - awgldk - TriplyDB

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.

http://www.wikidata.org/entity/Q38110380

about

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations Microarray analysis reveals higher gestational folic Acid alters expression of genes in the cerebellum of mice offspring-a pilot study.Mesenchymal Hamartoma of the Liver in an Infant With Beckwith-Wiedemann Syndrome: A Rare Condition Mimicking Hepatoblastoma.The developmental expression of the CDK inhibitor p57(kip2) (Cdkn1c) in the early mouse placenta.Height-reducing variants and selection for short stature in Sardinia.H19 non coding RNA-derived miR-675 enhances tumorigenesis and metastasis of breast cancer cells by downregulating c-Cbl and Cbl-b.A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes New developments in Silver-Russell syndrome and implications for clinical practice Childhood cancer in children with congenital anomalies in Oklahoma, 1997 to 2009.First principles of Hamiltonian medicine.The epigenome in pluripotency and differentiation.PLAGL1: an important player in diverse pathological processes.Long non-coding RNAs as novel biomarkers for breast cancer invasion and metastasis Cystic fibrosis and beckwith-wiedemann syndrome: a case report.De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.IGF2 stimulates fetal growth in a sex- and organ-dependent manner.Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome.Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.Circulating lncRNA H19 in plasma as a novel biomarker for breast cancer.Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.Early prenatal alcohol exposure alters imprinted gene expression in placenta and embryo in a mouse model.rs10732516 polymorphism at the IGF2/H19 locus associates with genotype-specific effects on placental DNA methylation and birth weight of newborns conceived by assisted reproductive technology.

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Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.

http://www.wikidata.org/entity/Q38110380

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Epigenetic and genetic alterat ...... yndrome and related disorders.

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Epigenetic and genetic alterat ...... yndrome and related disorders.

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Epigenetic and genetic alterat ...... yndrome and related disorders.

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Journal of Human Genetics

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Epigenetic and genetic alterat ...... yndrome and related disorders.

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Hidenobu Soejima

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Ken Higashimoto

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P2860

Silver-Russell syndrome: genetic basis and molecular genetic testing

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene

Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes

Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome

Suppression of cell transformation by the cyclin-dependent kinase inhibitor p57KIP2 requires binding to proliferating cell nuclear antigen

Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene

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402-409

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scholarly article

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10.1038/JHG.2013.51

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7

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58

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2013-05-30T00:00:00Z

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1031867325

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23719190

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