Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.
about
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activityThe comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Long-lasting alterations to DNA methylation and ncRNAs could underlie the effects of fetal alcohol exposure in miceHigh-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 patientsGene structure, DNA methylation, and imprinted expression of the human SNRPN geneAngelman syndrome: a review of the clinical and genetic aspectsLocalization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and TreatmentMouse homologues of human hereditary disease.Tumor-suppressor genes: cardinal factors in inherited predisposition to human cancersMapping dysmorphic syndromes with the aid of the human/mouse homology mapGenomic imprinting: review and relevance to human diseases.Pathway-specific dopaminergic deficits in a mouse model of Angelman syndromeGenetic reduction of the α1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome.Review of statistical methodologies for the detection of parent-of-origin effects in family trio genome-wide association data with binary disease traits.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicinePrader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS).Recent assembly of an imprinted domain from non-imprinted components.Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeDuplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.Molecular mechanisms in Angelman syndrome: a survey of 93 patients.Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.The Prader-Willi syndrome.Inv dup(15) supernumerary marker chromosomes.The mechanisms involved in formation of deletions and duplications of 15q11-q13.A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.Gender influences monoallelic expression of ATP10A in human brainInversion variants in the human genome: role in disease and genome architectureExploring genetic analysis of complex traits through the paradigm of alcohol dependence: summary of GAW11 contributions.Imprinted genes and the environment: links to the toxic metals arsenic, cadmium, lead and mercury.Epigenetics and assisted reproductive technology: a call for investigation.High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosageMammalian genomic imprinting.Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndromeAdeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome.The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.New thoughts on female precocious puberty.
P2860
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P2860
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.
description
1989 nî lūn-bûn
@nan
1989 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի փետրվարին 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
Angelman and Prader-Willi synd ...... rental origin of the deletion.
@ast
Angelman and Prader-Willi synd ...... rental origin of the deletion.
@en
Angelman and Prader-Willi synd ...... rental origin of the deletion.
@nl
type
label
Angelman and Prader-Willi synd ...... rental origin of the deletion.
@ast
Angelman and Prader-Willi synd ...... rental origin of the deletion.
@en
Angelman and Prader-Willi synd ...... rental origin of the deletion.
@nl
prefLabel
Angelman and Prader-Willi synd ...... rental origin of the deletion.
@ast
Angelman and Prader-Willi synd ...... rental origin of the deletion.
@en
Angelman and Prader-Willi synd ...... rental origin of the deletion.
@nl
P2093
P356
P1476
Angelman and Prader-Willi synd ...... rental origin of the deletion.
@en
P2093
P304
P356
10.1002/AJMG.1320320235
P577
1989-02-01T00:00:00Z