Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
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A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical regionPrader-Willi syndromeIdentification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking dupliconsIdentification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting controlThe human homolog of a mouse-imprinted gene, Peg3, maps to a zinc finger gene-rich region of human chromosome 19q13.4Parental antagonism, relatedness asymmetries, and genomic imprintingPrader-Willi and Angelman syndromes: sister imprinted disordersThe human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionA mouse model for Prader-Willi syndrome imprinting-centre mutationsUM 9(5)h and UM 9(5)p, human and porcine noncoding transcripts with preferential expression in the cerebellum.Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionGenomic imprinting: implications for human disease.Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.The mechanisms involved in formation of deletions and duplications of 15q11-q13.Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster.Imprinted genes as potential genetic and epigenetic toxicologic targetsCompetition--a common motif for the imprinting mechanism?Short interspersed transposable elements (SINEs) are excluded from imprinted regions in the human genome.Disruption of the bipartite imprinting center in a family with Angelman syndromeTranscription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.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 syndromeInduced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome.Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCsIdentification 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 regionConserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center.Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion.Multilocus methylation defects in imprinting disorders.Matrix-attachment regions in the mouse chromosome 7F imprinted domain.Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader-Willi syndromeBenefits and limitations of prenatal screening for Prader-Willi syndrome.
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P2860
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 1996
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Minimal definition of the impr ...... otype by imprinting mutations.
@en
Minimal definition of the impr ...... otype by imprinting mutations.
@nl
type
label
Minimal definition of the impr ...... otype by imprinting mutations.
@en
Minimal definition of the impr ...... otype by imprinting mutations.
@nl
prefLabel
Minimal definition of the impr ...... otype by imprinting mutations.
@en
Minimal definition of the impr ...... otype by imprinting mutations.
@nl
P2093
P2860
P356
P1476
Minimal definition of the impr ...... notype by imprinting mutations
@en
P2093
B Horsthemke
D J Driscoll
J Arnemann
J L Buxton
R D Nicholls
P2860
P304
P356
10.1073/PNAS.93.15.7811
P407
P577
1996-07-01T00:00:00Z