نتایج جستجو برای: multiplex ligation

تعداد نتایج: 42263  

2015
Marco Mignardi Anja Mezger Xiaoyan Qian Linnea La Fleur Johan Botling Chatarina Larsson Mats Nilsson

In clinical diagnostics a great need exists for targeted in situ multiplex nucleic acid analysis as the mutational status can offer guidance for effective treatment. One well-established method uses padlock probes for mutation detection and multiplex expression analysis directly in cells and tissues. Here, we use oligonucleotide gap-fill ligation to further increase specificity and to capture m...

ژورنال: :genetics in the 3rd millennium 0
بهروز ابراهیمی behrouz ebrahimzadeh یوسف شفقتی yousef shafeghati نوید المدنی navid almadani روشنک وامقی roshank vameghi فیروزه ساجدی firouzeh sajedi ساغر قاسمی فیروز آبادی saghar ghasemi firouzabadi حسین نجم آبادی

سندرم آنجلمن یک اختلال ژنتیکی پیچیده است که سیستم عصب مرکزی را گرفتار می کند . اغلب موارد سندرم آنجلمن (حدود 70%) زمانی رخ می دهد که یک قطعه از کروموزوم 15 (15q11-q13)مادری حذف میشود . علایم اصلی این سندرم شامل تاخیر تکامل ، ناتوانی ذهنی، اختلال کلامی شدید و مشکلات حرکتی و تعادلی ( آتاکسیا) میباشد . در این گزارش یک پسر بچه 8 ساله با علایم ناتوانی ذهنی ، تشنج ، خنده اضافی و اختلال حرکتی در دستها...

Journal: :Clinical chemistry 2008
Simon Fredriksson Joe Horecka Odd Terje Brustugun Joerg Schlingemann Albert C Koong Rob Tibshirani Ronald W Davis

BACKGROUND Sensitive methods are needed for biomarker discovery and validation. We tested one promising technology, multiplex proximity ligation assay (PLA), in a pilot study profiling plasma biomarkers in pancreatic and ovarian cancer. METHODS We used 4 panels of 6- and 7-plex PLAs to detect biomarkers, with each assay consuming 1 microL plasma and using either matched monoclonal antibody pa...

Journal: :Current opinion in chemical biology 2014
David Juncker Sébastien Bergeron Veronique Laforte Huiyan Li

Immunoassays are indispensable for research and clinical analysis, and following the emergence of the omics paradigm, multiplexing of immunoassays is more needed than ever. Cross-reactivity (CR) in multiplexed immunoassays has been unexpectedly difficult to mitigate, preventing scaling up of multiplexing, limiting assay performance, and resulting in inaccurate and even false results, and wrong ...

Journal: :journal of reproduction and infertility 0

background: in recent studies, partial deletions of the azoospermia factor c region (azfc) on the y-chromosome have been detected in males with infertility problems. however, there has been a lot of debate about their significance. in order to study such deletions, a simple but accurate method for their detection was applied in this study. methods: we present data obtained from the multiplex li...

Journal: :Neoplasma 2021

Familial adenomatous polyposis (FAP) is a hereditary syndrome characterized by the presence of multiple polyps in colon. The main cause disease germline mutation APC gene. Here we report 4 unrelated FAP patients with different large deletions gene detected Multiplex Ligation-dependent Probe Amplification (MLPA) method: deletion exons 7-15, promoters B, A, and 5'-UTR region promoter B (in 2 pati...

2012
Carles Garcia-Linares Jaume Mercadé Bernat Gel Josep Biayna Ernest Terribas Conxi Lázaro Eduard Serra

The study of somatic genetic alterations in tumors contributes to the understanding and management of cancer. Genetic alterations, such us copy number or copy neutral changes, generate allelic imbalances (AIs) that can be determined using polymorphic markers. Here we report the development of a simple set of calculations for analyzing microsatellite multiplex PCR data from control-tumor pairs t...

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