Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. - Wikidata - awgldk - TriplyDB

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

http://www.wikidata.org/entity/Q34326159

about

Genomic imprinting disorders in humans: a mini-review The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene Long noncoding RNAs in mammalian cells: what, where, and why?Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology Nonallelic transvection of multiple imprinted loci is organized by the H19 imprinting control region during germline development Child health, developmental plasticity, and epigenetic programming Quantitative and multiplexed DNA methylation analysis using long-read single-molecule real-time bisulfite sequencing (SMRT-BS).A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.Imprinting methylation errors in ART.Epigenetic and genetic diagnosis of Silver-Russell syndrome.Epigenotype-phenotype correlations in Silver-Russell syndrome Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction Dysregulation of genome-wide gene expression and DNA methylation in abnormal cloned piglets Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations An atypical case of hypomethylation at multiple imprinted loci.Influence of environmental exposure on human epigenetic regulation Characterization of global loss of imprinting in fetal overgrowth syndrome induced by assisted reproduction.GNAS Spectrum of Disorders.No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases Identification of differential gene expressions in colorectal cancer and polyp by cDNA microarray.Compromised fertility disrupts Peg1 but not Snrpn and Peg3 imprinted methylation acquisition in mouse oocytes.A novel variation of PLAGL1 in Chinese patients with isolated ventricular septal defect High Frequency of Imprinted Methylation Errors in Human Preimplantation Embryos The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine.Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?Large offspring syndrome: a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann.Is gestation in Prader-Willi syndrome affected by the genetic subtype?Demonstration of all-or-none loss of imprinting in mRNA expression in single cells.Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

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P2860

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

http://www.wikidata.org/entity/Q34326159

description

2008 nî lūn-bûn

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2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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Hypomethylation at multiple ma ...... n Beckwith-Wiedemann syndrome.

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Hypomethylation at multiple ma ...... n Beckwith-Wiedemann syndrome.

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Hypomethylation at multiple ma ...... n Beckwith-Wiedemann syndrome.

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Hypomethylation at multiple ma ...... n Beckwith-Wiedemann syndrome.

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Hypomethylation at multiple ma ...... n Beckwith-Wiedemann syndrome.

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Hypomethylation at multiple ma ...... n Beckwith-Wiedemann syndrome.

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Hypomethylation at multiple ma ...... n Beckwith-Wiedemann syndrome.

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Hypomethylation at multiple ma ...... n Beckwith-Wiedemann syndrome.

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Hypomethylation at multiple ma ...... n Beckwith-Wiedemann syndrome.

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P1433

European Journal of Human Genetics

P1476

Hypomethylation at multiple ma ...... in Beckwith-Wiedemann syndrome

@en

P2093

Agostina De Crescenzo

http://www.w3.org/2001/XMLSchema#string

Faustina Lalatta

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Flavia Cerrato

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Jonathan Callaway

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Lidia Larizza

http://www.w3.org/2001/XMLSchema#string

Lucio Giordano

http://www.w3.org/2001/XMLSchema#string

Marcel M A M Mannens

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Maria Michela Rinaldi

http://www.w3.org/2001/XMLSchema#string

Paola Ferrari

http://www.w3.org/2001/XMLSchema#string

Rita Fischetto

http://www.w3.org/2001/XMLSchema#string

P2860

ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome.

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

Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline

Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry

The GNAS locus and pseudohypoparathyroidism

Phenotypic plasticity and the epigenetics of human disease

Genomic imprinting: parental influence on the genome

Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra- and interchromosomal interactions.

Birth weight and head circumference standards for English twins.

Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor.

P2888

P304

611-619

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scholarly article

P356

10.1038/EJHG.2008.233

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5

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P478

17

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Maria Vittoria Cubellis

Deborah Jg Mackay

Isabel Karen Temple

P577

2008-12-17T00:00:00Z

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23673784

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19092779

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2986258

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