Search results for "Panel"
showing 10 items of 420 documents
Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants i…
2020
Simple Summary Many bilateral breast cancer patients with increased hereditary susceptibility to breast cancer result negative for BRCA1 or BRCA2 pathogenic variants and, thus, need a further genetic testing through a broader gene panel. Some patients with negative test result for BRCA1/2 pathogenic variants may harbor pathogenic variants in other breast cancer susceptibility genes, including ATM, CHEK2, PALB2, PTEN, TP53. Of course, the use of a multi-gene panel provides clinicians more information through a single test. Therefore, we focused on potential clinical impact of a NGS-based multi-gene panel testing in bilateral breast cancer patients, in order to evaluate the utility of perform…
Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas
2021
Background: Bone and soft-tissue sarcomas represent 13% of all paediatric malignancies. International contributions to introduce next-generation sequencing (NGS) approaches into clinical application are currently developing. We present the results from the Precision Medicine program for children with sarcomas at a reference centre. Results: Samples of 70 paediatric sarcomas were processed for histopathological analysis, reverse transcriptase polymerase chain reaction (RT-PCR) and next-generation sequencing (NGS) with a consensus gene panel. Pathogenic alterations were reported and, if existing, targeted recommendations were translated to the clinic. Seventy paediatric patients with sarcomas…
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
2017
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients seizures onset occurred before age 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30-gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2…
The MAM-CAP table: A new tool for monitoring panel performances
2014
Abstract Assessor performances in sensory analysis are usually represented by three indicators: repeatability, discrimination and agreement. However, assessors can also differ on the range of their scores, the so-called “scaling effect”. Brockhoff, Schlich, and Skovgaard (2013) proposed the mixed assessor model (MAM) which, as the original assessor model ( Brockhoff & Skovgaard, 1994 ), takes this effect into account, but also allows for the product effect to be tested against a new interaction free of the scaling effect. The present paper proposes a unified system for monitoring assessor and panel performances based on the MAM. In addition to the product effect (tested at panel and individ…
What are the sensory differences among coffees? Multi-panel analysis of variance and FLASH analysis
1998
International audience
Financial Structure of the Family Business: Evidence From a Group of Small Spanish Firms
2007
This article presents empirical evidence on the determinants of the financial behavior of small family businesses and their differences from nonfamily small businesses. Taking into account two consolidated financial approaches, (1) the trade-off theory and (2) the pecking order theory, several hypotheses on the financial behavior of both groups of firms have been tested. By estimating these models through panel data methodology, using a sample of Spanish family businesses together with another control group of nonfamily businesses, we have obtained results confirming that a business's family nature does lead it to employ financial policy different from the rest of businesses. Furthermore, …
L'apport du sentiment de l'investisseur dans l'explication des crises boursières : Une analyse en données de panel
2011
Un debat tres anime portant sur le lien entre les aspects comportementaux des investisseurs et les marches financiers s’est largement developpe au cours de la derniere decennie. La presente etude teste l’impact du sentiment de l’investisseur sur un panel de marches boursiers internationaux. Nous etudions l’influence du sentiment de l’investisseur sur la probabilite de survenance des crises boursieres. Nos resultats montrent que les crises boursieres sont precedees de periodes de montee de l’euphorie des investisseurs.
A Multilayered Plate Theory with Transverse Shear and Normal Warping Functions
2016
A multilayered plate theory which takes into account transverse shear and normal stretching is presented. The theory is based on a seven-unknowns kinematic field with five warping functions. Four warping functions are related to the transverse shear behaviour, the fifth is related to the normal stretching. The warping functions are issued from exact three-dimensional solutions. They are related to the variations of transverse shear and normal stresses computed at specific points for a simply supported bending problem. Reddy, Cho-Parmerter and (a modified version of) Beakou-Touratier theories have been retained for comparisons. Extended versions of these theories, able to manage the normal s…
Factores determinantes de la salida a bolsa de una compañía. El caso español
2016
El objetivo de la Tesis Doctoral es estudiar los factores determinantes de la salida a bolsa en el mercado continuo español. Para ello considera una muestra de 44 empresas no financieras que salieron a bolsa en España en el periodo comprendido entre 1997 y 2010 y utiliza una muestra de control de empresas que eran susceptibles de salir a bolsa en el mismo periodo, pero que optaron por no hacerlo. Para el logro del objetivo señalado, la Tesis se estructura en una Introducción general, cuatro capítulos, una sección en la que se recogen la discusión y las conclusiones de la Tesis, las referencias bibliográficas y siete anexos. El capítulo primero aborda tres cuestiones relacionadas con la sali…
Hacia la ley europea del clima: las evaluaciones científicas y el futuro papel de las respuestas jurídicas de los estados miembros
2021
Los problemas climáticos son temas persistentes y omnipresentes dentro de las políticas y legislaciones contemporáneas, que exigen un enfoque interdisciplinario para promover soluciones jurídicas adecuadas para la complejidad del tema. Paradójicamente, las propagandas negacionistas, lejos de bloquear las acciones climáticas, las han propiciado, lo que ha llevado al establecimiento de un organismo científico super partes que reconociese las cuestiones climáticas a través de informes científicos avanzados: el Grupo Intergubernamental de Expertos sobre el Cambio Climático de la ONU (IPCC). Desde entonces, muchos países han usado los hallazgos del IPCC como base científica para desarrollar polí…