Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome
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Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counsellingPrediction of Plant Height in Arabidopsis thaliana Using DNA Methylation Data.Molecular mechanisms in Angelman syndrome: a survey of 93 patients.Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.Molecular screening for proximal 15q abnormalities in a mentally retarded population.Assessment of parent-of-origin effects in linkage analysis of quantitative traitsMolecular mechanism of angelman syndrome in two large families involves an imprinting mutationThe E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.Linkage analysis in familial Angelman syndrome.A GWAS assessment of the contribution of genomic imprinting to the variation of body mass index in miceImprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromesIncorporating parent-of-origin effects in whole-genome prediction of complex traits.Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.Investigation of parent-of-origin effect in comitant strabismus using MOD score analysisStructure and function of the human chromosome 15 imprinting center.Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.New insights reveal complex mechanisms involved in genomic imprinting.Prader-Willi syndrome with a long-contiguous stretch of homozygosity not covering the critical region.
P2860
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P2860
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome
description
1992 nî lūn-bûn
@nan
1992 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Linkage analysis with chromoso ...... in familial Angelman syndrome
@ast
Linkage analysis with chromoso ...... in familial Angelman syndrome
@en
type
label
Linkage analysis with chromoso ...... in familial Angelman syndrome
@ast
Linkage analysis with chromoso ...... in familial Angelman syndrome
@en
prefLabel
Linkage analysis with chromoso ...... in familial Angelman syndrome
@ast
Linkage analysis with chromoso ...... in familial Angelman syndrome
@en
P2093
P2860
P356
P1476
Linkage analysis with chromoso ...... in familial Angelman syndrome
@en
P2093
Brunner HG
Hoogeboom AJ
Meijers-Heijboer EJ
Niermeijer MF
Sandkuijl LA
van Hemel JO
P2860
P304
P356
10.1136/JMG.29.12.853
P407
P577
1992-12-01T00:00:00Z