Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
about
Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesAbnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunctionSilver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyProfound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locusGenome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genesVery small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutationsCharacterization of global loss of imprinting in fetal overgrowth syndrome induced by assisted reproduction.Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesEpimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.New developments in Silver-Russell syndrome and implications for clinical practiceMultilocus methylation defects in imprinting disorders.Recent Advances in Imprinting Disorders.An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndromeEpimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology.In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder PatientsA novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.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.Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.
P2860
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P2860
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
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name
Targeted methylation testing o ...... ption of imprinting disorders.
@en
Targeted methylation testing o ...... ption of imprinting disorders.
@nl
type
label
Targeted methylation testing o ...... ption of imprinting disorders.
@en
Targeted methylation testing o ...... ption of imprinting disorders.
@nl
prefLabel
Targeted methylation testing o ...... ption of imprinting disorders.
@en
Targeted methylation testing o ...... ption of imprinting disorders.
@nl
P2093
P2860
P356
P1476
Targeted methylation testing o ...... iption of imprinting disorders
@en
P2093
Abeer Al Sayegh
Anna Lehmann
Claire Turner
Emma Baple
Emma Wakeling
I Karen Temple
International Clinical Imprinting Consortium
Louise E Docherty
Lucy Harrison
Rebecca L Poole
P2860
P304
P356
10.1002/AJMG.A.36049
P407
P577
2013-08-02T00:00:00Z