Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
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Prader-Willi syndromeThe imprinting mechanism of the Prader-Willi/Angelman regional control center.Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbGenomic imprinting: implications for human disease.DNA methylation based testing of 450 patients suspected of having Prader-Willi syndromeA clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.Imprinted genes as potential genetic and epigenetic toxicologic targetsMolecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.The evolution of genomic imprinting.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 syndromeThe E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.Neuroepigenomics: Resources, Obstacles, and Opportunities.Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Distinct phenotypes distinguish the molecular classes of Angelman syndromePrader-Willi syndrome: A primer for clinicians.Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.The fragile X premutation in carriers and its effect on mutation size in offspringReactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCsThe impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunctionFamilial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila.Mouse chromosome engineering for modeling human disease.RNAs of the human chromosome 15q11-q13 imprinted regionEpigenetics in critical illness: a new frontier.Prader-Willi Syndrome: Clinical and Genetic FindingsMinimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.Dynamic methylation adjustment and counting as part of imprinting mechanisms.Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion.Benefits and limitations of prenatal screening for Prader-Willi syndrome.Ubiquitin ligase components Cullin4 and DDB1 are essential for DNA methylation in Neurospora crassaNeocortical development as an evolutionary platform for intragenomic conflictAllele-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.
P2860
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P2860
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Imprinting mutations suggested ...... man and Prader-Willi syndromes
@ast
Imprinting mutations suggested ...... man and Prader-Willi syndromes
@en
type
label
Imprinting mutations suggested ...... man and Prader-Willi syndromes
@ast
Imprinting mutations suggested ...... man and Prader-Willi syndromes
@en
prefLabel
Imprinting mutations suggested ...... man and Prader-Willi syndromes
@ast
Imprinting mutations suggested ...... man and Prader-Willi syndromes
@en
P2093
P2860
P1476
Imprinting mutations suggested ...... man and Prader-Willi syndromes
@en
P2093
Dittrich B
Gillessen-Kaesbach G
Horsthemke B
P2860
P304
P407
P577
1994-05-01T00:00:00Z