3 results for “15q”

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Research ArticleOpen accessIn the keywordsMitochondrial Energy-Deficient Endophenotype in AutismJ. Jay Gargus, Faiqa ImtiazWhile evidence points to a multigenic etiology of most autism, the pathophysiology of the disorder has yet to be defined and the underlying genes and biochemical pathways they subserve remain unknown. Autism is considered to be influenced by a combination of various genetic, environmental and immunological factors; more recently, evidence has suggested that increased vulnerability to oxidative stress may be … …American Journal of Biochemistry and Biotechnology, Vol. 4, Issue 2 · 30 Jun 2008 · 11,507 accessesView PDF Cite

Research ArticleOpen accessIn the keywordsUNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODSLivia Kotysova, Robert Petrovic, Jan ChandogaPrader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the … …OnLine Journal of Biological Sciences, Vol. 14, Issue 3 · 12 Nov 2014 · 7,006 accessesView PDF Cite

Research ArticleOpen accessIn the abstractIdentification of Novel Chromosomal Abnormalities, inv(5)(p13q13) and t(7;18)(q32;q21), Associated with AutismZheng Chen, Xiao-bing Zou, Ya-nan Zhang et al.Autism is a neurodevelopmental disorder defined by impairments in social interaction, communication, as well as restricted and stereotyped behaviors. While the etiology of autism remains largely unknown, the existence of genetic components has been clearly demonstrated in autistic pathogenesis. The incidence of autism is 50-100 fold greater in the population with autistic family history than the general population. Chromosomal abnormalities … …American Journal of Biochemistry and Biotechnology, Vol. 3, Issue 3 · 30 Sep 2007 · 6,773 accessesView PDF Cite