Results 41 to 50 of about 67,701 (309)
CNVs in neurodevelopmental disorders
Oncotarget, 2015 Copy number variations (CNVs) consist of duplications or deletions of chromosomal regions ranging from a few hundred to more than a million bases in size, and are likely to play a role in phenotypic diversity and evolution. Recent advances in the identification and mapping of CNVs among normal individuals and in model systems, using bioinformatics and ...
Chun-Ting, Lee +2 more
openaire +2 more sources
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
, 2019 (A) Grand-averaged CNV at FCz for Cushion × Ball. (B) Topographical maps representing mean amplitudes of the CNV range (-1000 ms—0 ms). (C) The mean amplitude in each condition. Error bars indicate the standard deviation across participants.
Yuji Takeda (178444) +1 more
core +1 more source
JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level
Genomics, Proteomics & Bioinformatics, 2022 We aimed to develop a whole-genome sequencing (WGS)-based copy number variant (CNV) calling algorithm with the potential of replacing chromosomal microarray assay (CMA) for clinical diagnosis.
Wan-Ping Lee +10 more
doaj +1 more source
Association of CNVs with methylation variation [PDF]
npj Genomic Medicine, 2020 AbstractGermline copy number variants (CNVs) and single-nucleotide polymorphisms (SNPs) form the basis of inter-individual genetic variation. Although the phenotypic effects of SNPs have been extensively investigated, the effects of CNVs is relatively less understood.
Xinghua Shi +9 more
openaire +3 more sources
KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer
Molecular Oncology, EarlyView.Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan +16 more
wiley +1 more source
De vakbond CNV stelt zich voor [PDF]
, 2008 Waaraan denkt u als het gaat over vakbonden? Stakingen? Polderoverleg? Looneisen? Een kennismaking met CNV Publieke Zaak laat zien dat een moderne bond zich ook met hele andere zaken bezighoudt, zoals waardering, gezondheid en ...
CNV Publieke Zaak
core +1 more source
Molecular Oncology, EarlyView.Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena +15 more
wiley +1 more source
Differences of CNV resolution between adults and children: developmental changes in P300 [PDF]
, 2003 脳の事象関連電位である随伴性陰性変動（CNV）の解消過程の発達的変化及び随伴性陰性変動解消過程におけるP300の影響を捉えるため，成人７名と児童８名のCNV解消時問，P300を測定し比較した．そして，P300とCNV解消過程の相関を検討した． その結果，CNV解消時間は，Fzにおいて成人群が児童群よりも有意にCNV解消時間が短かった ...
船瀬, 広三 +2 more
core
Laser-induced CNV model. [PDF]
, 2014 CNV area size was evaluated on flatmount on day 7. (A) CNV induced by laser in the mice expressing different levels of GPx4. Scale bar, 500 µm.
Hirotaka Imai (241758) +4 more
core +1 more source