22q11. 2 deletion syndrome
DM McDonald-McGinn, KE Sullivan, B Marino… - Nature reviews Disease …, 2015 - nature.com
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
Mosaicism in health and disease—clones picking up speed
Post-zygotic variation refers to genetic changes that arise in the soma of an individual and
that are not usually inherited by the next generation. Although there is a paucity of research …
that are not usually inherited by the next generation. Although there is a paucity of research …
Multiplex quantification of four DNA targets in one reaction with Bio-Rad droplet digital PCR system for GMO detection
The advantages of the digital PCR technology are already well documented until now. One
way to achieve better cost efficiency of the technique is to use it in a multiplexing strategy …
way to achieve better cost efficiency of the technique is to use it in a multiplexing strategy …
22q11 deletion syndrome: current perspective
B Hacıhamdioğlu, D Hacıhamdioğlu… - The application of clinical …, 2015 - Taylor & Francis
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy
repeats or segmental duplications. This region of the chromosome is very unstable and …
repeats or segmental duplications. This region of the chromosome is very unstable and …
Multiplex ddPCR assay for screening copy number variations in BRCA1 gene
I Oscorbin, A Kechin, U Boyarskikh… - Breast Cancer Research …, 2019 - Springer
Purpose Germinal and somatic rearrangements in BRCA1 gene play a significant role in
carcinogenesis of breast and ovarian cancer. The present study is dedicated to the …
carcinogenesis of breast and ovarian cancer. The present study is dedicated to the …
Multiplex droplet digital PCR method applicable to newborn screening, carrier status, and assessment of spinal muscular atrophy
N Vidal-Folch, D Gavrilov, K Raymond… - Clinical …, 2018 - academic.oup.com
BACKGROUND Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder
with neuronal degeneration leading to muscular atrophy and respiratory failure. SMA is …
with neuronal degeneration leading to muscular atrophy and respiratory failure. SMA is …
Human herpesvirus multiplex ddPCR detection in brain tissue from low-and high-grade astrocytoma cases and controls
CTM Lin, EC Leibovitch, MI Almira-Suarez… - Infectious agents and …, 2016 - Springer
Background Glioblastoma (GBM) is a fatal CNS malignancy, representing 50% of all gliomas
with approximately 12–18 months survival time after initial diagnosis. Recently, the human …
with approximately 12–18 months survival time after initial diagnosis. Recently, the human …
Identification of 22q11. 2 deletion syndrome via newborn screening for severe combined immunodeficiency
JC Barry, TB Crowley, S Jyonouchi, J Heimall… - Journal of Clinical …, 2017 - Springer
Abstract Purpose Chromosome 22q11. 2 deletion syndrome (22q11. 2DS), the most
common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally …
common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally …
Diagnostic tools for inborn errors of human immunity (primary immunodeficiencies and immune dysregulatory diseases)
AM Richardson, AM Moyer, L Hasadsri… - Current allergy and …, 2018 - Springer
Abstract Purpose of Review The purpose of this review is to provide an overview of
diagnostic testing in primary immunodeficiency and immune dysregulatory disorders …
diagnostic testing in primary immunodeficiency and immune dysregulatory disorders …
数字PCR 技术及其在检测领域的应用
冯秀晶， 易红梅， 任星旭， 任佳丽， 葛建镕， 王凤格 - 遗传, 2020 - chinagene.cn
随着分子生物学技术的不断发展和需求的多样化, 用于核酸检测的各种PCR 衍生技术应运而生.
数字PCR 是一种单分子水平的大规模分区扩增定量核酸检测技术. 该技术以微腔室/微孔或微滴 …
数字PCR 是一种单分子水平的大规模分区扩增定量核酸检测技术. 该技术以微腔室/微孔或微滴 …