Artiklar med krav på offentlig åtkomst - Eduard SerraLäs mer
Inte tillgängliga någonstans: 6
Probe-Based Quantitative PCR Assay for Detecting Constitutional and Somatic Deletions in the NF1 Gene: Application to Genetic Testing and Tumor Analysis
E Terribas, C Garcia-Linares, C Lazaro, E Serra
Clinical Chemistry 59 (6), 928-937, 2013
Krav: Government of Spain
Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation
M Magallón-Lorenz, J Fernández-Rodríguez, E Terribas, ...
Human Genetics 140 (8), 1241-1252, 2021
Krav: US National Institutes of Health, Government of Spain
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer
JM Moreno-Cabrera, J Del Valle, L Feliubadaló, M Pineda, S González, ...
Journal of Medical Genetics 59 (1), 75-78, 2022
Krav: US National Institutes of Health, Government of Spain
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component
N Catasús, B Garcia, I Galván-Femenía, A Plana, A Negro, I Rosas, A Ros, ...
Journal of Medical Genetics 59 (7), 678-686, 2022
Krav: Government of Spain
Genomics of peripheral nerve sheath tumors associated with neurofibromatosis type 1
E Serra, B Gel, J Fernández-Rodríguez, C Lázaro
Multidisciplinary Approach to Neurofibromatosis Type 1, 117-147, 2020
Krav: Government of Spain
Deep Intronic NF1 Mutations and Possible Therapeutic Interventions
C Lázaro, J Fernández-Rodríguez, E Serra
Neurofibromatosis Type 1: Molecular and Cellular Biology, 173-186, 2012
Krav: Government of Spain
Tillgängliga någonstans: 53
karyoploteR: an R/Bioconductor package to plot customizable genomes displaying arbitrary data
B Gel, E Serra
Bioinformatics 33 (19), 3088-3090, 2017
Krav: Government of Spain
regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests
B Gel, A Díez-Villanueva, E Serra, M Buschbeck, MA Peinado, ...
Bioinformatics 32 (2), 289-291, 2016
Krav: Government of Spain
Negative feedback that improves information transmission in yeast signalling
RC Yu, CG Pesce, A Colman-Lerner, L Lok, D Pincus, E Serra, M Holl, ...
Nature 456 (7223), 755-761, 2008
Krav: US National Institutes of Health
Forward genetic screen for malignant peripheral nerve sheath tumor formation identifies new genes and pathways driving tumorigenesis
EP Rahrmann, AL Watson, VW Keng, K Choi, BS Moriarity, DA Beckmann, ...
Nature genetics 45 (7), 756-766, 2013
Krav: US National Institutes of Health
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
SR Plotkin, L Messiaen, E Legius, P Pancza, RA Avery, JO Blakeley, ...
Genetics in Medicine 24 (9), 1967-1977, 2022
Krav: US National Institutes of Health, National Institute for Health Research, UK …
Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene
SJ Miller, WJ Jessen, T Mehta, A Hardiman, E Sites, S Kaiser, AG Jegga, ...
EMBO molecular medicine 1 (4), 236-248, 2009
Krav: US National Institutes of Health
Mosaic type‐1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type‐1 (NF1)
L Messiaen, J Vogt, K Bengesser, C Fu, F Mikhail, E Serra, ...
Human mutation 32 (2), 213-219, 2011
Krav: German Research Foundation
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
L Feliubadaló, A Lopez-Doriga, E Castellsagué, J Del Valle, M Menéndez, ...
European Journal of Human Genetics 21 (8), 864-870, 2013
Krav: Government of Spain
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics
JM Moreno-Cabrera, J Del Valle, E Castellanos, L Feliubadaló, M Pineda, ...
European Journal of Human Genetics 28 (12), 1645-1655, 2020
Krav: Government of Spain
Dissecting Loss of Heterozygosity (LOH) in neurofibromatosis type 1‐associated neurofibromas: Importance of copy neutral LOH
C Garcia‐Linares, J Fernández‐Rodríguez, E Terribas, J Mercadé, E Pros, ...
Human mutation 32 (1), 78-90, 2011
Krav: Research Foundation (Flanders)
Ras-driven transcriptome analysis identifies aurora kinase A as a potential malignant peripheral nerve sheath tumor therapeutic target
AV Patel, D Eaves, WJ Jessen, TA Rizvi, JA Ecsedy, MG Qian, BJ Aronow, ...
Clinical cancer research 18 (18), 5020-5030, 2012
Krav: US National Institutes of Health
Epigenetic induction of the Ink4a/Arf locus prevents Schwann cell overproliferation during nerve regeneration and after tumorigenic challenge
JA Gomez-Sanchez, C Gomis-Coloma, C Morenilla-Palao, G Peiro, ...
Brain 136 (7), 2262-2278, 2013
Krav: Government of Spain
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
E Castellanos, B Gel, I Rosas, E Tornero, S Santín, R Pluvinet, J Velasco, ...
Scientific reports 7 (1), 39348, 2017
Krav: Government of Spain
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer
L Feliubadaló, R Tonda, M Gausachs, JR Trotta, E Castellanos, ...
Scientific reports 7 (1), 37984, 2017
Krav: Government of Spain
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