Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes
نویسندگان
چکیده
منابع مشابه
Imprinting in Angelman and Prader-Willi syndromes.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by deficiencies of gene expression from paternal or maternal chromosome 15q11-q13, respectively. Many advances have occurred during the past year. The gene for necdin was mapped in the PWS candidate region and found to be paternally expressed in mouse and human. The bisulfite method for analysis of methylation was established for...
متن کاملTowards a molecular understanding of Prader-Willi and Angelman syndromes.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurological disorders that map to human chromosome 15q11-q13 and involve perturbations of imprinted gene expression. PWS is caused by a deficiency of paternal gene expression and AS is caused by a deficiency of maternal gene expression. Experiments in the last year have focused on molecular analysis of the human chromosoma...
متن کاملPrader-Willi and Angelman syndromes: sister imprinted disorders.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. They both have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia. The behavioral and endocrine di...
متن کاملimprinting genes and genetic disorders: review on two prader-willi and angelman syndromes
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متن کاملGenomic imprinting: genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman syndromes
Chromosomal 15q11-q13 region is of great interest in Human Genetics because many structural rearrangements have been described for it (deletions, duplications and translocations) leading to phenotypes resulting in conditions such as the Prader-Willi (PWS) and Angelman (AS) syndromes which were the first human diseases found to be related to the differential expression of parental alleles (genom...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2011
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.59