Eduard Serra
Eduard Serra
Researcher, The Institute for Health Science Research Germans Trias i Pujol (IGTP)
Correu electrònic verificat a igtp.cat - Pàgina d'inici
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Regulated cell-to-cell variation in a cell-fate decision system
A Colman-Lerner, A Gordon, E Serra, T Chin, O Resnekov, D Endy, ...
Nature 437 (7059), 699-706, 2005
4892005
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
E Ars, E Serra, J García, H Kruyer, A Gaona, C Lázaro, X Estivill
Human molecular genetics 9 (2), 237-247, 2000
4272000
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations
E Serra, T Rosenbaum, U Winner, R Aledo, E Ars, X Estivill, HG Lenard, ...
Human molecular genetics 9 (20), 3055-3064, 2000
2662000
Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas
E Serra, S Puig, D Otero, A Gaona, H Kruyer, E Ars, X Estivill, C Lázaro
The American Journal of Human Genetics 61 (3), 512-519, 1997
2411997
Negative feedback that improves information transmission in yeast signalling
CY Richard, CG Pesce, A Colman-Lerner, L Lok, D Pincus, E Serra, ...
Nature 456 (7223), 755-761, 2008
2322008
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
E Ars, H Kruyer, M Morell, E Pros, E Serra, A Ravella, X Estivill, C Lazaro
Journal of medical genetics 40 (6), e82-e82, 2003
1752003
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
1592016
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, 2013
1382013
karyoploteR: an R/Bioconductor package to plot customizable genomes displaying arbitrary data
B Gel, E Serra
Bioinformatics 33 (19), 3088-3090, 2017
1212017
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
1132011
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
1052013
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
1042009
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations
E Pros, C Gómez, T Martín, P Fábregas, E Serra, C Lázaro
Human mutation 29 (9), E173-E193, 2008
892008
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene
E Ars, H Kruyer, A Gaona, P Casquero, J Rosell, V Volpini, E Serra, ...
The American Journal of Human Genetics 62 (4), 834-841, 1998
861998
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations
E Serra, E Ars, A Ravella, A Sanchez, S Puig, T Rosenbaum, X Estivill, ...
Human genetics 108 (5), 416-429, 2001
852001
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas
E Serra, T Rosenbaum, M Nadal, U Winner, E Ars, X Estivill, C Lázaro
Nature genetics 28 (3), 294-296, 2001
722001
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas
E Serra, T Rosenbaum, M Nadal, U Winner, E Ars, X Estivill, C Lázaro
Nature genetics 28 (3), 294-296, 2001
722001
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination
K Steinmann, DN Cooper, L Kluwe, NA Chuzhanova, C Senger, E Serra, ...
The American Journal of Human Genetics 81 (6), 1201-1220, 2007
712007
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
672012
Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA
E Ars, E Serra, S de la Luna, X Estivill, C Lázaro
Nucleic Acids Research 28 (6), 1307-1312, 2000
612000
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
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