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L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases.
Published in:
Pharmaceuticals (14248247), 2019, v. 12, n. 1, p. 17, doi. 10.3390/ph12010017
By:
- Cadenas, Beatriz;
- Fita-Torró, Josep;
- Bermúdez-Cortés, Mar;
- Hernandez-Rodriguez, Inés;
- Fuster, José Luis;
- Llinares, María Esther;
- Galera, Ana María;
- Romero, Julia Lee;
- Pérez-Montero, Santiago;
- Tornador, Cristian;
- Sanchez, Mayka
Publication type:
Article
New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4406, doi. 10.3390/ijms23084406
By:
- Romero-Cortadellas, Lídia;
- Hernández, Gonzalo;
- Ferrer-Cortès, Xènia;
- Zalba-Jadraque, Laura;
- Fuster, José Luis;
- Bermúdez-Cortés, Mar;
- Galera-Miñarro, Ana María;
- Pérez-Montero, Santiago;
- Tornador, Cristian;
- Sánchez, Mayka
Publication type:
Article
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5451, doi. 10.3390/ijms22115451
By:
- Celma Nos, Ferran;
- Hernández, Gonzalo;
- Ferrer-Cortès, Xènia;
- Hernandez-Rodriguez, Ines;
- Navarro-Almenzar, Begoña;
- Fuster, José Luis;
- Bermúdez Cortés, Mar;
- Pérez-Montero, Santiago;
- Tornador, Cristian;
- Sanchez, Mayka
Publication type:
Article
Dynamic functional connectivity reveals altered variability in functional connectivity among patients with major depressive disorder.
Published in:
Human Brain Mapping, 2016, v. 37, n. 8, p. 2918, doi. 10.1002/hbm.23215
By:
- Demirtaş, Murat;
- Tornador, Cristian;
- Falcón, Carles;
- López ‐ Solà, Marina;
- Hernández ‐ Ribas, Rosa;
- Pujol, Jesús;
- Menchón, José M.;
- Ritter, Petra;
- Cardoner, Narcis;
- Soriano ‐ Mas, Carles;
- Deco, Gustavo
Publication type:
Article
Altered amygdalar resting-state connectivity in depression is explained by both genes and environment.
Published in:
Human Brain Mapping, 2015, v. 36, n. 10, p. 3761, doi. 10.1002/hbm.22876
By:
- Córdova ‐ Palomera, Aldo;
- Tornador, Cristian;
- Falcón, Carles;
- Bargalló, Nuria;
- Nenadic, Igor;
- Deco, Gustavo;
- Fañanás, Lourdes
Publication type:
Article
Environmental factors linked to depression vulnerability are associated with altered cerebellar resting-state synchronization.
Published in:
Scientific Reports, 2016, p. 37384, doi. 10.1038/srep37384
By:
- Córdova-Palomera, Aldo;
- Tornador, Cristian;
- Falcón, Carles;
- Bargalló, Nuria;
- Brambilla, Paolo;
- Crespo-Facorro, Benedicto;
- Deco, Gustavo;
- Fañanás, Lourdes
Publication type:
Article
PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data
Published in:
PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063377
By:
- Escaramís, Geòrgia;
- Tornador, Cristian;
- Bassaganyas, Laia;
- Rabionet, Raquel;
- Tubio, Jose M. C.;
- Martínez-Fundichely, Alexander;
- Cáceres, Mario;
- Gut, Marta;
- Ossowski, Stephan;
- Estivill, Xavier
Publication type:
Article
Evolutionary Dynamics of the Ty3/Gypsy LTR Retrotransposons in the Genome of Anopheles gambiae.
Published in:
PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016328
By:
- Tubio, Jose Manuel C.;
- Tojo, Marta;
- Bassaganyas, Laia;
- Escaramis, Georgia;
- Sharakhov, Igor V.;
- Sharakhova, Maria V.;
- Tornador, Cristian;
- Unger, Maria F.;
- Naveira, Horacio;
- Costas, Javier;
- Besansky, Nora J.
Publication type:
Article
BID expression determines the apoptotic fate of cancer cells after abrogation of the spindle assembly checkpoint by AURKB or TTK inhibitors.
Published in:
Molecular Cancer, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12943-023-01815-w
By:
- Bertran-Alamillo, Jordi;
- Giménez-Capitán, Ana;
- Román, Ruth;
- Talbot, Sara;
- Whiteley, Rebecca;
- Floc'h, Nicolas;
- Martínez-Pérez, Elizabeth;
- Martin, Matthew J.;
- Smith, Paul D.;
- Sullivan, Ivana;
- Terp, Mikkel G.;
- Saeh, Jamal;
- Marino-Buslje, Cristina;
- Fabbri, Giulia;
- Guo, Grace;
- Xu, Man;
- Tornador, Cristian;
- Aguilar-Hernández, Andrés;
- Reguart, Noemí;
- Ditzel, Henrik J.
Publication type:
Article
Kin-Driver: a database of driver mutations in protein kinases.
Published in:
Database: The Journal of Biological Databases & Curation, 2014, v. 2014, p. 1, doi. 10.1093/database/bau104
By:
- Simonetti, Franco L.;
- Tornador, Cristian;
- Nabau-Moretó, Nuria;
- Molina-Vila, Miguel A.;
- Marino-Buslje, Cristina
Publication type:
Article
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 528, doi. 10.1038/ejhg.2013.175
By:
- Trujillano, Daniel;
- Perez, Belén;
- González, Justo;
- Tornador, Cristian;
- Navarrete, Rosa;
- Escaramis, Georgia;
- Ossowski, Stephan;
- Armengol, Lluís;
- Cornejo, Verónica;
- Desviat, Lourdes R;
- Ugarte, Magdalena;
- Estivill, Xavier
Publication type:
Article
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.
Published in:
Nature, 2011, v. 475, n. 7354, p. 101, doi. 10.1038/nature10113
By:
- Puente, Xose S.;
- Pinyol, Magda;
- Quesada, Víctor;
- Conde, Laura;
- Ordóñez, Gonzalo R.;
- Villamor, Neus;
- Escaramis, Georgia;
- Jares, Pedro;
- Beà, Sílvia;
- González-Díaz, Marcos;
- Bassaganyas, Laia;
- Baumann, Tycho;
- Juan, Manel;
- López-Guerra, Mónica;
- Colomer, Dolors;
- Tubío, José M. C.;
- López, Cristina;
- Navarro, Alba;
- Tornador, Cristian;
- Aymerich, Marta
Publication type:
Article
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia.
Published in:
Frontiers in Physiology, 2019, p. 1, doi. 10.3389/fphys.2019.01063
By:
- Tornador, Cristian;
- Sánchez-Prados, Edgar;
- Cadenas, Beatriz;
- Russo, Roberta;
- Venturi, Veronica;
- Andolfo, Immacolata;
- Hernández-Rodriguez, Ines;
- Iolascon, Achille;
- Sánchez, Mayka
Publication type:
Article
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia.
Published in:
Frontiers in Physiology, 2019, p. 1, doi. 10.3389/fphys.2019.01063
By:
- Tornador, Cristian;
- Sánchez-Prados, Edgar;
- Cadenas, Beatriz;
- Russo, Roberta;
- Venturi, Veronica;
- Andolfo, Immacolata;
- Hernández-Rodriguez, Ines;
- Iolascon, Achille;
- Sánchez, Mayka
Publication type:
Article
Activating Mutations Cluster in the 'Molecular Brake' Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues.
Published in:
Human Mutation, 2014, v. 35, n. 3, p. 318, doi. 10.1002/humu.22493
By:
- Molina‐Vila, Miguel A.;
- Nabau‐Moretó, Nuria;
- Tornador, Cristian;
- Sabnis, Amit J.;
- Rosell, Rafael;
- Estivill, Xavier;
- Bivona, Trever G.;
- Marino‐Buslje, Cristina
Publication type:
Article
New Mutations in HFE2 and TFR2 Genes Causing Non HFE -Related Hereditary Hemochromatosis.
Published in:
2021
By:
- Hernández, Gonzalo;
- Ferrer-Cortès, Xenia;
- Venturi, Veronica;
- Musri, Melina;
- Pilquil, Martin Floor;
- Torres, Pau Marc Muñoz;
- Rodríguez, Ines Hernandez;
- Mínguez, Maria Àngels Ruiz;
- Kelleher, Nicholas J.;
- Pelucchi, Sara;
- Piperno, Alberto;
- Alberca, Esther Plensa;
- Ricós, Georgina Gener;
- Giró, Eloi Cañamero;
- Pérez-Montero, Santiago;
- Tornador, Cristian;
- Villà-Freixa, Jordi;
- Sánchez, Mayka
Publication type:
Case Study
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 9935, doi. 10.3390/ijms24129935
By:
- Musri, Melina Mara;
- Venturi, Veronica;
- Ferrer-Cortès, Xènia;
- Romero-Cortadellas, Lídia;
- Hernández, Gonzalo;
- Leoz, Pilar;
- Ricard Andrés, María Pilar;
- Morado, Marta;
- Fernández Valle, María del Carmen;
- Beneitez Pastor, David;
- Ortuño Cabrero, Ana;
- Moreno Gamiz, Maite;
- Senent Peris, Leonor;
- Perez-Valencia, Amanda Isabel;
- Pérez-Montero, Santiago;
- Tornador, Cristian;
- Sánchez, Mayka
Publication type:
Article

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