Browsing by Subject Mutation (Biology)
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| Issue Date | Title | Author(s) |
|---|---|---|
| 18-Sep-2014 | A broad spectrum of genomic changes in Latinamerican patients with EXT1/EXT2-CDG | Delgado, M. A.; Martinez-Domenech, G.; Sarrión Pérez-Caballero, Patricia; Urreizti, Roser; Zecchini, L.; Robledo, H. H.; Segura, F.; Dodelson de Kremer, Raquel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Asteggiano, Carla |
| 9-Dec-2015 | A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. | Alioto, Tyler S.; Buchhalter, Ivo; Derdak, Sophia; Hutter, Barbara; Eldridge, Matthew D.; Hovig, Eivind; Heisler, Lawrence E.; Beck, Timothy A.; Simpson, Jared T.; Tonon, Laurie; Sertier, Anne-Sophie; Patch, Ann-Marie; Jäger, Natalie; Ginsbach, Philip; Drews, Ruben; Paramasivam, Nagarajan; Kabbe, Rolf; Chotewutmontri, Sasithorn; Diessl, Nicolle; Previti, Christopher; Schmidt, Sabine; Brors, Benedikt; Feuerbach, Lars; Heinold, Michael; Gröbner, Susanne; Korshunov, Andrey; Tarpey, Patrick; Butler, Adam P.; Hinton, Jonathan; Jones, David T.W.; Menzies, Andrew; Raine, Keiran; Shepherd, Rebecca; Stebbings, Lucy; Teague, John W.; Ribeca, Paolo; Castro Giner, Francesc; Beltran i Agulló, Sergi; Raineri, Emanuele; Dabad, Marc; Heath, Simon C.; Gut, Marta; Denroche, Robert E.; Harding, Nicholas J.; Yamaguchi, Takafumi N.; Nakagawa, Hidewaki; Quesada, Victor; Valdés Mas, Rafael; Nakken, Sigve; Vodák, Daniel; Bower, Lawrence; Lynch, Andrew G.; Anderson, Charlotte L.; Waddell, Nicola; Pearson, John V.; Grimmond, Sean M.; Peto, Myron; Spellman, Paul; He, Minghui; Kandoth, Cyriac; Lee, Semin; Zhang, John; Létourneau, Louis; Ma, Singer; Seth, Sahil; Torrents Arenales, David; Xi, Liu; Wheeler, David A.; López-Otin, Carlos; Campo Güerri, Elias; Campbell, Peter J.; Boutros, Paul C.; Puente, Xose S.; Gerhard, Daniela S.; Pfister, Stefan M.; McPherson, John D.; Hudson, Thomas J.; Schlesner, Matthias; Lichter, Peter; Eils, Roland; Jones, David T.W.; Gut, Ivo G. |
| 12-Jan-2018 | A de novo FOXP1 truncating mutation in a patient originally diagnosed as C Syndrome | Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla Vallmanya, Laura; Tonda, Raul; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 1-Jan-2020 | A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases | Verdura, Edgard; Schlüter, Agatha; Fernández Eulate, Gorka; Ramos-Martín, Raquel; Zulaica, Miren; Planas Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; López de Munain, Adolfo; Pujol Onofre, Aurora |
| 5-Feb-2020 | A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns | Jiao, Wei; Atwal, Gurnit; Polak, Paz; Karlic, Rosa; Cuppen, Edwin; PCAWG Tumor Subtypes and Clinical Translation Working Group; Danyi, Alexandra; de Ridder, Jeroen; van Herpen, Carla; Lolkema, Martijn P.; Steeghs, Neeltje; Getz, Gad; Morris, Quaid D.; Stein, Lincoln D.; PCAWG Consortium; Deu-Pons, Jordi; Frigola, Joan; González-Pérez, Abel; Muiños, Ferran; Mularoni, Loris; Pich, Oriol; Reyes-Salazar, Iker; Rubio-Perez, Carlota; Sabarinathan, Radhakrishnan; Tamborero, David; Aymerich Gregorio, Marta; Campo Güerri, Elias; López Guillermo, Armando; Gelpi Buchaca, Josep Lluís; Rabionet Janssen, Raquel |
| 5-Dec-2022 | A hotspot for posttranslational modifications on the androgen receptor dimer interface drives pathology and anti-androgen resistance | Alegre-Martí, Andrea; Jiménez Panizo, Alba; Martínez-Tébar, Adrián; Poulard, Coralie; Peralta Moreno, María Nuria; Abella, Montserrat; Antón, Rosa; Chiñas, Marcos; Eckhard, Ulrich; Piulats, Josep M.; Rojas, Ana M.; Fernández Recio, Juan; Rubio Martínez, Jaime; Le Romancer, Muriel; Aytés Meneses, Álvaro; Fuentes-Prior, Pablo; Estébanez Perpiñá, Eva |
| 4-Oct-2023 | A hotspot for posttranslational modifications on the androgen receptor dimer interface drives pathology and anti-androgen resistance | Alegre Martí, Andrea |
| 27-Jul-2023 | A journey towards the identification of novel therapeutical strategies for advanced cholangiocarcinoma with IDH1 mutations | Serra Camprubí, Queralt |
| 25-Sep-2015 | A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families | Calvete, Oriol; Martinez, Paula; Garcia Pavia, Pablo; Benitez Buelga, Carlos; Paumard Hernández, Beatriz; Fernandez, Victoria; Dominguez, Fernando; Salas, Clara; Romero Laorden, Nuria; Garcia Donas, Jesus; Carrillo, Jaime; Perona, Rosario; Triviño, Juan Carlos; Andrés, Raquel; Cano, Juana María; Rivera, Barbara; Alonso Pulpon, Luis; Setién, Fernando; Esteller, Manel; Rodriguez Perales, Sandra; Bougeard, Gaelle; Frebourg, Tierry; Urioste, Miguel; Blasco, María A.; Benitez, Javier |
| 1-Jan-2024 | A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis | Porras, Luz Marina; Padilla, Natàlia; Moles Fernández, Alejandro; Feliubadaló, Lidia; Santamariña Pena, Marta; Sánchez, Alysson T.; López Novo, Anael; Blanco, Ana; De La Hoya, Miguel; Molina, Ignacio J.; Osorio, Ana; Pineda, Marta; Rueda, Daniel; Ruiz Ponte, Clara; Vega, Ana; Lázaro García, Conxi; Díez, Orland; Gutiérrez Enríquez, Sara; De La Cruz, Xavier |
| 24-Oct-2018 | A Pan-cancer analysis reveals high-frequency genetic alterations in mediators of signaling by the tgf-β superfamily | Korkut, Anil; Zaidi, Sobia; Kanchi, Rupa S.; Rao, Shuyun; Gough, Nancy R.; Schultz, Andre; Li, Xubin; Lorenzi, Philip L.; Berger, Ashton C.; Robertson, Gordon; Kwong, Lawrence N.; Datto, Mike; Roszik, Jason; Ling, Shiyun; Ravikumar, Visweswaran; Manyam, Ganiraju; Rao, Arvind; Shelley, Simon; Liu, Yuexin; Ju, Zhenlin; Hansel, Donna; Velasco, Guillermo de; Pennathur, Arjun; Andersen, Jesper B.; O'Rourke, Colm J.; Ohshiro, Kazufumi; Jogunoori, Wilma; Nguyen, Bao-Ngoc; Li, Shulin; Osmanbeyoglu, Hatice U.; Ajani, Jaffer A.; Mani, Sendurai A.; Houseman, Andres; Wiznerowicz, Maciej; Chen, Jian; Gu, Shoujun; Ma, Wencai; Zhang, Jiexin; Tong, Pan; Cancer Genome Atlas Research Network |
| 5-Jul-2019 | A practical guide for mutational signature analysis in hematological malignancies | Maura, Francesco; Degasperi, Andrea; Nadeu, Ferran; Leongamornlert, Daniel; Davies, Helen; Moore, Luiza; Royo, Romina; Ziccheddu, Bachisio; Puente, Xose S.; Avet-Loiseau, Hervé; Campbell, Peter J.; Nik-Zainal, Serena; Campo Güerri, Elias; Munshi, Nikhil; Bolli, Niccolò |
| 28-Nov-2022 | A Single Point Mutation Blocks the Entrance of Ligands to the Cannabinoid CB2 Receptor via the Lipid Bilayer | Casajuana-Martin, Nil; Navarro Brugal, Gemma; González Ureña, A.; Llinàs Del Torrent Masachs, Clàudia; Gómez-Autet, Marc; Quintana García, Aleix; Franco Fernández, Rafael; Pardo, Leonardo |
| 6-Nov-2015 | Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting | Sánchez Delgado, Marta; Martín Trujillo, Alex; Tayama, Chiharu; Vidal, Enrique; Esteller, Manel; Iglesias Platas, Isabel; Deo, Nandita; Barney, Olivia; Maclean, Ken; Hata, Kenichiro; Nakabayashi, Kazuhiko; Fisher, Rosemary; Monk, David |
| 24-Jan-2017 | Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas. | Abate, Francesco; Silva-Almeida, Ana C. da; Zairis, Sakellarios; Robles Valero, Javier; Couronne, Lucile; Khiabanian, Hossein; Quinn, S. Aidan; Kim, Mi-Yeon; Laginestra, M.Antonella; Kim, Christine; Fiore, Danilo; Bhagat, Govind; Piris, Miguel A.; Campo Güerri, Elias; Lossos, Izidore S.; Bernard, Olivier A.; Inghirami, Giorgio; Pileri, Stefano Aldo; Bustelo, Xosé R.; Rabadán, Raul; Ferrando, Adolfo A.; Palomero, Teresa |
| 2-Dec-2022 | Active DNA demethylation of developmental cis-regulatory regions predates vertebrate origins | Skvortsova, Ksenia; Bertrand, Stephanie; Voronov, Danila; Duckett, Paul E.; Ross, Samuel E.; Magri, Marta Silvia; Maeso, Ignacio; Weatheritt, Robert J.; Gómez Skarmeta, Jose Luis; Arnone, Maria Ina; Escriva, Hector; Bogdanovic, Ozren |
| 9-Apr-2015 | Additional mechanisms conferring genetic susceptibility to Alzheimer's disease | Calero, Miguel; Gómez Ramos, Alberto; Calero, Olga; Soriano García, Eduardo; Avila, Jesús; Medina, Miguel |
| 27-Feb-2007 | Alteracions de la VIA RAS-RAF en càncer gastrointestinal amb defectes de reparació genòmica | Domingo Villanueva, Enric |
| 22-Jan-2013 | Analysis of protein-coding mutations in hiPSCs and their possible role during somatic cell reprogramming | Ruiz, Sergio; Gore, Athurva; Li, Zhe; Panopoulos, Athanasia D.; Montserrat, Núria; Fung, Ho-Lim; Giorgetti, Alessandra; Bilic, Josipa; Batchelder, Erika M.; Zaehres, Holm; Schöler, Hans R.; Zhang, Kun; Izpisúa Belmonte, Juan Carlos |
| 29-Jul-2005 | Anàlisi bioinformàtica de les mutacions puntuals patològiques | Ferrer Costa, Carles |