Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
about
The ubiquitin-conjugating enzymes UbcH7 and UbcH8 interact with RING finger/IBR motif-containing domains of HHARI and H7-AP1Maternal Factors that Induce Epigenetic Changes Contribute to Neurological Disorders in OffspringFamilial Prader-Willi syndrome: case report and a literature review.Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosisMolecular mechanism of angelman syndrome in two large families involves an imprinting mutationImprinting-mutation mechanisms in Prader-Willi syndromePatients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS featuresAngelman syndrome (AS, MIM 105830)Analysis of aberrant methylation of the VHL gene by transgenes, monochromosome transfer, and cell fusion.Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS.Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutationFamilial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome
P2860
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P2860
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
@ast
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
@en
type
label
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
@ast
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
@en
prefLabel
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
@ast
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
@en
P2093
P2860
P356
P1476
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome
@en
P2093
Dittrich B
Horsthemke B
Sperling K
P2860
P356
10.1086/513900
P407
P50
P577
1997-07-01T00:00:00Z