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Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma
Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma
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Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma

Garcia-Reyero, Julia ; Martinez Magunacelaya, Nerea ; Gonzalez de Villambrosia, Sonia ; Loghavi, Sanam ; Gomez Mediavilla, Angela ; Tonda, Raul ; Beltran, Sergi ; Gut, Marta ; Pereña Gonzalez, Ainara ; d'Ámore, Emanuele ; Visco, Carlo ; Khoury, Joseph D ; Montes-Moreno, Santiago

Haematologica (Roma), 2021-04, Vol.106 (4), p.1120-1128 [Periódico revisado por pares]

Italy: Fondazione Ferrata Storti

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2
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing
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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

de Castro-Miró, Marta ; Tonda, Raul ; Escudero-Ferruz, Paula ; Andrés, Rosa ; Mayor-Lorenzo, Andrés ; Castro, Joaquín ; Ciccioli, Marcela ; Hidalgo, Daniel A ; Rodríguez-Ezcurra, Juan José ; Farrando, Jorge ; Pérez-Santonja, Juan J ; Cormand, Bru ; Marfany, Gemma ; Gonzàlez-Duarte, Roser Kaya, Namik

PloS one, 2016-12, Vol.11 (12), p.e0168966-e0168966 [Periódico revisado por pares]

United States: Public Library of Science

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3
Deep analysis of acquired resistance to FGFR1 inhibitor identifies MET and AKT activation and an expansion of AKT1 mutant cells
Deep analysis of acquired resistance to FGFR1 inhibitor identifies MET and AKT activation and an expansion of AKT1 mutant cells
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Deep analysis of acquired resistance to FGFR1 inhibitor identifies MET and AKT activation and an expansion of AKT1 mutant cells

Gimenez-Xavier, Pol ; Pros, Eva ; Aza, Ana ; Moran, Sebastian ; Tonda, Raul ; Esteve-Codina, Anna ; Dabad, Marc ; Sanchez-Cespedes, Montse

Oncotarget, 2018-07, Vol.9 (59), p.31549-31558

United States: Impact Journals

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4
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
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A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

Fernández-Marmiesse, Ana ; Sánchez-Iglesias, Sofía ; Darling, Alejandra ; O'Callaghan, María M. ; Tonda, Raúl ; Jou, Cristina ; Araújo-Vilar, David

Seizure (London, England), 2019-10, Vol.71, p.161-165 [Periódico revisado por pares]

England: Elsevier Ltd

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5
Variability in porcine microRNA genes and its association with mRNA expression and lipid phenotypes
Variability in porcine microRNA genes and its association with mRNA expression and lipid phenotypes
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Variability in porcine microRNA genes and its association with mRNA expression and lipid phenotypes

Mármol-Sánchez, Emilio ; Luigi-Sierra, María Gracia ; Castelló, Anna ; Guan, Dailu ; Quintanilla, Raquel ; Tonda, Raul ; Amills, Marcel

Genetics selection evolution (Paris), 2021-05, Vol.53 (1), p.43-43, Article 43 [Periódico revisado por pares]

France: BioMed Central Ltd

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6
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies
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Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies

de Castro-Miró, Marta ; Pomares, Esther ; Lorés-Motta, Laura ; Tonda, Raul ; Dopazo, Joaquín ; Marfany, Gemma ; Gonzàlez-Duarte, Roser Escriva, Hector

PloS one, 2014-02, Vol.9 (2), p.e88410-e88410 [Periódico revisado por pares]

United States: Public Library of Science

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7
An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element
An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element
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An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element

Clop, Alex ; Bertoni, Anna ; Spain, Sarah L ; Simpson, Michael A ; Pullabhatla, Venu ; Tonda, Raul ; Hundhausen, Christian ; Di Meglio, Paola ; De Jong, Pieter ; Hayday, Adrian C ; Nestle, Frank O ; Barker, Jonathan N ; Bell, Robert J A ; Capon, Francesca ; Trembath, Richard C Novelli, Giuseppe

PloS one, 2013-08, Vol.8 (8), p.e71690-e71690 [Periódico revisado por pares]

United States: Public Library of Science

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8
Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses
Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses
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Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses

Metzger, Julia ; Karwath, Matthias ; Tonda, Raul ; Beltran, Sergi ; Águeda, Lídia ; Gut, Marta ; Gut, Ivo Glynne ; Distl, Ottmar

BMC genomics, 2015-10, Vol.16 (1), p.764-764, Article 764 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Wnt genes in colonic polyposis predisposition
Wnt genes in colonic polyposis predisposition
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Wnt genes in colonic polyposis predisposition

Quintana, Isabel ; Terradas, Mariona ; Mur, Pilar ; te Paske, Iris B.A.W. ; Peters, Sophia ; Spier, Isabel ; Steinke-Lange, Verena ; Maestro, Claudia ; Torrents, David ; Puiggròs, Montserrat ; Royo, Romina ; Tonda, Raul ; Parra, Genís ; Piscia, Davide ; Beltrán, Sergi ; Navarro, Matilde ; Piñol, Virginia ; Brunet, Joan ; Gonzalez-Abuin, Noemi ; Aiza, Gemma ; Sommer, Anna ; van Herwaarden, Yasmijn ; Astuti, Galuh ; Holinski-Feder, Elke ; Hoogerbrugge, Nicoline ; de Voer, Richarda M. ; Aretz, Stefan ; Capellá, Gabriel ; Valle, Laura

Genes & diseases, 2023-05, Vol.10 (3), p.753-757 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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10
ATRX driver mutation in a composite malignant pheochromocytoma
ATRX driver mutation in a composite malignant pheochromocytoma
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ATRX driver mutation in a composite malignant pheochromocytoma

Comino-Méndez, Iñaki ; Tejera, Águeda M ; Currás-Freixes, María ; Remacha, Laura ; Gonzalvo, Pablo ; Tonda, Raúl ; Letón, Rocío ; Blasco, María A ; Robledo, Mercedes ; Cascón, Alberto

Cancer genetics, 2016-06, Vol.209 (6), p.272-277 [Periódico revisado por pares]

United States: Elsevier Inc

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