An atypical case of hypomethylation at multiple imprinted loci. - Wikidata - wikimedia - TriplyDB

An atypical case of hypomethylation at multiple imprinted loci.

An atypical case of hypomethylation at multiple imprinted loci.

http://www.wikidata.org/entity/Q34705172

about

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders.Multilocus methylation defects in imprinting disorders.An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.Role of DNA methylation in imprinting disorders: an updated review.Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?Interplay of early-life nutritional programming on obesity, inflammation and epigenetic outcomes.Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

P2860

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P2860

An atypical case of hypomethylation at multiple imprinted loci.

http://www.wikidata.org/entity/Q34705172

description

2011 nî lūn-bûn

@nan

2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

An atypical case of hypomethylation at multiple imprinted loci.

@ast

An atypical case of hypomethylation at multiple imprinted loci.

@en

An atypical case of hypomethylation at multiple imprinted loci.

@nl

type

label

An atypical case of hypomethylation at multiple imprinted loci.

@ast

An atypical case of hypomethylation at multiple imprinted loci.

@en

An atypical case of hypomethylation at multiple imprinted loci.

@nl

prefLabel

An atypical case of hypomethylation at multiple imprinted loci.

@ast

An atypical case of hypomethylation at multiple imprinted loci.

@en

An atypical case of hypomethylation at multiple imprinted loci.

@nl

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P1433

European Journal of Human Genetics

P1476

An atypical case of hypomethylation at multiple imprinted loci.

@en

P2093

Catherine Willoughby

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

Deborah J G Mackay

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

Emma L Baple

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

I Karen Temple

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

Louise E Docherty

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

Rebecca L Poole

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

Rohan Taylor

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

Sahar Mansour

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

P2860

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

Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.

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

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.

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.

Angelman syndrome (AS, MIM 105830)

Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.

Methylation-specific PCR simplifies imprinting analysis.

P2888

P304

360-362

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scholarly article

P356

10.1038/EJHG.2010.218

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3

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P478

19

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49729076

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1014999262

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21206512

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P932

3061991

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