Search results for "Multiplex"
showing 10 items of 337 documents
BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases
2008
Male breast cancer (MBC) is a rare and poorly known disease. Germ-line mutations of BRCA2 and, to lesser extent, BRCA1 genes are the highest risk factors associated with MBC. Interestingly, BRCA2 germ-line rearrangements have been described in high-risk breast/ovarian cancer families which included at least one MBC case. Germ-line mutations of CHEK2 gene have been also implicated in inherited MBC predisposition. The CHEK2 1100delC mutation has been shown to increase the risk of breast cancer in men lacking BRCA1/BRCA2 mutations. Intriguingly, two other CHEK2 mutations (IVS2+1G>A and I157T) and a CHEK2 large genomic deletion (del9-10) have been associated with an elevated risk for prostate c…
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy
2009
The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplifi…
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.
2007
Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Proban…
Diagnostic accuracy of a fully automated multiplex celiac disease antibody panel for serum and plasma.
2019
Abstract Background An automated multiplex platform using capillary blood can promote greater throughput and more comprehensive studies in celiac disease (CD). Diagnostic accuracy should be improved using likelihood ratios for the post-test probability of ruling-in disease. Methods The Ig_plex™ Celiac Disease Panel on the sqidlite™ automated platform measured IgA and IgG antibodies to tTG and DGP in n = 224 CD serum or plasma samples. Diagnostic accuracy metrics were applied to the combined multiplex test results for several CD populations and compared to conventional single antibody ELISA tests. Results With multiple positive antibody results, the post-test probability for ruling-in untrea…
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
2010
International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …
Multiplexed plasmon sensor for rapid label-free analyte detection.
2013
Efficient and cost-effective multiplexed detection schemes for proteins in small liquid samples would bring drastic advances to fields like disease detection or water quality monitoring. We present a novel multiplexed sensor with randomly deposited aptamer functionalized gold nanorods. The spectral position of plasmon resonances of individual nanorods, monitored by dark-field spectroscopy, respond specifically to different proteins. We demonstrate nanomolar sensitivity, sensor recycling, and the potential to upscale to hundreds or thousands of targets.
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
2022
Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an …
Applicability of Interference Coordination in Highly Loaded HSUPA Network
2010
This paper evaluates the performance of highly loaded High Speed Uplink Packet Access (HSUPA) network with and without network wide static Interference Coordination (IC). IC alternates the priorities for user transmission periods throughout the network to achieve reduced interference levels and higher performance. A large variety of combinations including, e.g., different schedulers, cell center/edge user definitions (user splits) and interference targets are investigated in this paper. Performance is analyzed using a quasi-static system level simulator which is also used to support Third Generation Partnership Project (3GPP) standardization work. The simulator contains detailed and commonl…
An approach for influence estimatation in complex networks : application to the social network Twitter
2019
Influence in complex networks and in particular Twitter has become recently a hot research topic. Detecting most influential users leads to reach a large-scale information diffusion area at low cost, something very useful in marketing or political campaigns. In this thesis, we propose a new approach that considers the several relations between users in order to assess influence in complex networks such as Twitter. We model Twitter as a multiplex heterogeneous network where users, tweets and objects are represented by nodes, and links model the different relations between them (e.g., retweets, mentions, and replies).The multiplex PageRank is applied to data from two datasets in the political…
BIO-Bragg gratings: structured molecular networks for on-fiber bioanalysis
2021
The research on photonic biosensors is a scientific hot topic at the moment, with a significant potential impact on industry and medicine. Label-free, miniaturized, inexpensive and low-loss biosensors are developed based on optical fiber technology. Our approach is based on a Bio-Bragg-Grating (BBG) patterned on the surface of a microfiber. We present the design, fabrication and proof of concept of our device, as well as its multiplexing and tunability perspectives [1] .