Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.
about
Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndromeRhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors.Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancyGenetic mapping of the human tryptophan hydroxylase gene on chromosome 11, using an intronic conformational polymorphismTranscriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samplesAnalysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlationLoss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprintingCommon and specific roles of the related CDK inhibitors p27 and p57 revealed by a knock-in mouse modelGenomic imprinting: review and relevance to human diseases.Cloning, expression and localization of human BM88 shows that it maps to chromosome 11p15.5, a region implicated in Beckwith-Wiedemann syndrome and tumorigenesisProviral rearrangements and overexpression of a new cellular gene (nov) in myeloblastosis-associated virus type 1-induced nephroblastomasBeckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting femalesParental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndromeMosaic uniparental disomy in Beckwith-Wiedemann syndrome.Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndromeBeckwith-Wiedemann syndrome in a child with chromosome 18q deletionMultiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragmentsCongenital anomalies and genetic disorders in families of children with central nervous system tumours.Pediatric Rhabdomyosarcoma.Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcomaPlacental mesenchymal dysplasia, a case of intrauterine sudden death of fetus with rupture of cirsoid periumbilical chorionic vessels.A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Wiedemann and associated embryonal tumor disease lociMouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromesOppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome.Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumorsLow frequency of p57KIP2 mutation in Beckwith-Wiedemann syndromeIGF2 expression is a marker for paraganglionic/SIF cell differentiation in neuroblastoma.Genomic imprinting: mechanism and role in human pathology.The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith-Wiedemann syndrome.Uniparental disomy occurs infrequently in Wilms tumor patients.Long non-coding RNAs: versatile master regulators of gene expression and crucial players in cancer.Molecular genetic analysis of chromosome 11p in familial Wilms tumour.Tumour suppression associated with expression of human insulin-like growth factor II.Loss of heterozygosity on chromosome 16 in sporadic Wilms' tumour.Clinically relevant subsets identified by gene expression patterns support a revised ontogenic model of Wilms tumor: a Children's Oncology Group Study.Loss of heterozygosity at 7p in Wilms' tumour development.Paternal Insulin-like Growth Factor 2 (Igf2) Regulates Stem Cell Activity During Adulthood.Mapping of 262 DNA markers into 24 intervals on human chromosome 11.Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?
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P2860
Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.
description
1989 nî lūn-bûn
@nan
1989 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.
@ast
Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.
@en
type
label
Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.
@ast
Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.
@en
prefLabel
Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.
@ast
Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.
@en
P2093
P2860
P1476
Genetic linkage of Beckwith-Wiedemann syndrome to 11p15
@en
P2093
P2860
P304
P407
P577
1989-05-01T00:00:00Z