In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy? [PDF]
Frontiers in MedicinePurposeCopy number variation sequencing (CNV-Seq) has become a first-line prenatal diagnostic technology. The purpose of this study was to investigate the changes in the target population for prenatal diagnosis in the CNV-Seq era and to assess the ...
Shaozhe Yang +13 more
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CCND1 and PTEN genes as markers of progression in vulvar cancer
Исследования и практика в медицине, 2023 Purpose of the study. Studying the relative copy number of 12 genes: MYC, PTEN, CCND1, PIK3CA, TP53, CDKN2A, MDM2, MCL1, NFKBIA, MTAP, BIRC2, KMT2C, to search for potential prognostic cancer markers in vulvar cancer (VR).Patients and methods.
A. V. Busarova +3 more
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Indian Journal of Ophthalmology, 2022 Purpose: To analyze the structural features of subretinal hyper-reflective material (SHRM) in posterior uveitis using swept-source optical coherence tomography (SS-OCT) and optical coherence tomography angiography (SS-OCTA).
Atul Arora +7 more
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Detection of Copy number variation in Holstein cattle genome by using 50K [PDF]
مجله بیوتکنولوژی کشاورزی, 2014 Copy number variation (CNV) is important on biological mechanism. For CNV detection and distribution, three bovine autosomal chromosomes, BTA6, BTA14 and BTA6 that improved for quantitative trait loci (QTL) previously, were investigated.
Maryam Nosrati +2 more
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Revista Latinoamericana de Derechos Humanos, 2022 El texto presenta la discusión teórica hacia la noción del aula de ingreso como lugar curricular y el valor de la comunicación no verbal docente en las interacciones comunicacionales de los inicios de la formación.
Graciela B. Plachot González
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Microbial Cell, 2022 The emergence of drug resistance significantly hampers the treatment of human infections, including those caused by fungal pathogens such as Candida species.
Pedro Pais +4 more
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Multiplex ligation-dependent probe amplification – a short overview
Romanian Journal of Laboratory Medicine, 2020 Multiplex Ligation-dependent Probe Amplification is a technique proposed for the detection of deletions or duplications that may lead to copy number variations in genomic DNA, mainly due to its higher resolution, and shorter overall diagnosis time, when ...
Moldovan Valeriu, Moldovan Elena
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Fluorescein angiography compared to three-dimensional measurements by the retinal thickness analyzer in classic choroidal neovascularization [PDF]
, 2007 Purpose: To compare and correlate imaging of classic subfoveal choroidal neovascularization (CNV) with noninvasive 3-dimensional imaging by the retinal thickness analyzer (RTA) to conventional fluorescein angiography (FA).
Kampik, Anselm +3 more
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Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7 [PDF]
, 2018 CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV),
Altieri, Filomena +13 more
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Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]
, 2019 Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto +2 more
core +1 more source