Parental origin of chromosome 15 deletion in Prader-Willi syndrome.
about
Prader-Willi syndrome is caused by disruption of the SNRPN geneGenomic imprinting disorders in humans: a mini-reviewHigh-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patientsLocalization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15Mouse homologues of human hereditary disease.Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.A boy with developmental delay and a maternally inherited deletion in 15q11q13Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality surveyAn anthropometric study of 38 individuals with Prader-Labhart-Willi syndromeDermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings.Prader-Willi syndrome: current understanding of cause and diagnosis.Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.Androgen receptor (AR) gene CAG trinucleotide repeat length associated with body composition measures in non-syndromic obese, non-obese and Prader-Willi syndrome individualsThe role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.Prader-Willi Syndrome: Obesity due to Genomic Imprinting.Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region.Disease management of Prader-Willi syndrome.Molecular analysis of the 18q- syndrome--and correlation with phenotype.Linkage analysis in familial Angelman syndrome.Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomyAngelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.Isolation and analysis of DNA markers specific to human chromosome 15.Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q.Genomic imprinting: mechanism and role in human pathology.The 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?Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromesCytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Understanding the pathogenesis of Angelman syndrome through animal modelsAngelman syndrome: clinical profile.Prader-Willi Syndrome: Genetics and BehaviorCharacterization of Obesity in the Prader-Labhart-Willi Syndrome: Fatness Patterning.The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.Phenotypic variability and genetic susceptibility to genomic disordersProximal interstitial deletion of 7q: a case report and review of the literature.E6-Associated Protein Dependent Estrogen Receptor Regulation of Protein Kinase A Regulatory Subunit R2A Expression in Neuroblastoma.Chromosome maps of man and mouse. IV.Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.
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P2860
Parental origin of chromosome 15 deletion in Prader-Willi syndrome.
description
1983 nî lūn-bûn
@nan
1983 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
name
Parental origin of chromosome 15 deletion in Prader-Willi syndrome.
@ast
Parental origin of chromosome 15 deletion in Prader-Willi syndrome.
@en
type
label
Parental origin of chromosome 15 deletion in Prader-Willi syndrome.
@ast
Parental origin of chromosome 15 deletion in Prader-Willi syndrome.
@en
prefLabel
Parental origin of chromosome 15 deletion in Prader-Willi syndrome.
@ast
Parental origin of chromosome 15 deletion in Prader-Willi syndrome.
@en
P1433
P1476
Parental origin of chromosome 15 deletion in Prader-Willi syndrome.
@en
P2093
C G Palmer
M G Butler
P2860
P304
P356
10.1016/S0140-6736(83)92745-9
P407
P577
1983-06-01T00:00:00Z