Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18 von Fraile-Bethencourt, Eugenia, Díez-Gómez, Beatriz, Velásquez-Zapata, Valeria, Acedo, Alberto, Sanz, David J, Velasco, Eladio A

Volltext

Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer‐rich regions and 38 spliceogenic variants von Sanoguera‐Miralles, Lara, Llinares‐Burguet, Inés, Bueno‐Martínez, Elena, Ramadane‐Morchadi, Lobna, Stuani, Cristiana, Valenzuela‐Palomo, Alberto, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Buratti, Emanuele, Hoya, Miguel, Velasco‐Sampedro, Eladio A

Volltext

Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays von Fraile‐Bethencourt, Eugenia, Valenzuela‐Palomo, Alberto, Díez‐Gómez, Beatriz, Goina, Elisa, Acedo, Alberto, Buratti, Emanuele, Velasco, Eladio A

Volltext

Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants von Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Valenzuela‐Palomo, Alberto, Esteban‐Sánchez, Ada, Lorca, Víctor, Llinares‐Burguet, Inés, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Durán, Mercedes, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, Hoya, Miguel, Velasco‐Sampedro, Eladio A

Volltext

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants : An ENIGMA report von Lopez-Perolio, Irene, Leman, Raphaël, Behar, Raquel, Lattimore, Vanessa, Pearson, John F., Castéra, Laurent, Martins, Alexandra, Vaur, Dominique, Goardon, Nicolas, Davy, Grégoire, Garre, Pilar, García-Barberán, Vanesa, Llovet, Patricia, Pérez-Segura, Pedro, Díaz-Rubio, Eduardo, Caldés, Trinidad, Hruska, Kathleen S., Hsuan, Vickie, Wu, Sitao, Pesaran, Tina, Karam, Rachid, Vallon-Christersson, Johan, Borg, Ake, Investigators, Kconfab, Valenzuela-Palomo, Alberto, Velasco, Eladio Andrés, Southey, Melissa, Vreeswijk, Maaike P.G., Devilee, Peter, Kvist, Anders, Spurdle, Amanda B., Walker, Logan C., Krieger, Sophie, De La Hoya, Miguel

Volltext

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes von Acedo, Alberto, Sanz, David J, Durán, Mercedes, Infante, Mar, Pérez-Cabornero, Lucía, Miner, Cristina, Velasco, Eladio A

Volltext

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases von Blanco, Ana, de la Hoya, Miguel, Osorio, Ana, Diez, Orland, Miramar, María Dolores, Infante, Mar, Martinez-Bouzas, Cristina, Torres, Asunción, Lasa, Adriana, Llort, Gemma, Brunet, Joan, Graña, Begoña, Perez Segura, Pedro, Garcia, María José, Gutiérrez-Enríquez, Sara, Carracedo, Ángel, Tejada, María-Isabel, Velasco, Eladio A, Calvo, María-Teresa, Balmaña, Judith, Benitez, Javier, Caldés, Trinidad, Vega, Ana

Volltext

Editorial: RNA Splicing and Backsplicing: Disease and Therapy von Asselta, Rosanna, Duga, Stefano, Velasco, Eladio Andres, Buratti, Emanuele

Volltext

UGT1A1 Variants c.864+5G T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays von Gailite, Linda, Valenzuela-Palomo, Alberto, Sanoguera-Miralles, Lara, Rots, Dmitrijs, Kreile, Madara, Velasco, Eladio A.

Volltext

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15 von Fraile-Bethencourt, Eugenia, Valenzuela-Palomo, Alberto, Díez-Gómez, Beatriz, Caloca, María José, Gómez-Barrero, Susana, Velasco, Eladio A

Volltext

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays von Fraile-Bethencourt, Eugenia, Valenzuela-Palomo, Alberto, Díez-Gómez, Beatriz, Acedo, Alberto, Velasco, Eladio A

Volltext

Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1 von Casado-Medrano, Victoria, Barrio-Real, Laura, Gutiérrez-Miranda, Laura, González-Sarmiento, Rogelio, Velasco, Eladio A., Kazanietz, Marcelo G., Caloca, María J.

Volltext

Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons von Acedo, Alberto, Hernández-Moro, Cristina, Curiel-García, Álvaro, Díez-Gómez, Beatriz, Velasco, Eladio A.

Volltext

Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants von Valenzuela‐Palomo, Alberto, Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Lorca, Víctor, Fraile‐Bethencourt, Eugenia, Esteban‐Sánchez, Ada, Gómez‐Barrero, Susana, Carvalho, Sara, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Dorling, Leila, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, Hoya, Miguel, Velasco, Eladio A

Volltext

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid von Lara, Beatriz, Martínez, Maria Teresa, Blanco, Ignacio, Hernández-Moro, Cristina, Velasco, Eladio A, Ferrarotti, Ilaria, Rodriguez-Frias, Francisco, Perez, Laura, Vazquez, Irene, Alonso, Javier, Posada, Manuel, Martínez-Delgado, Beatriz

Volltext

Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1 von Casado-Medrano, Victoria, Barrio-Real, Laura, Gutiérrez-Miranda, Laura, González-Sarmiento, Rogelio, Velasco, Eladio A., Kazanietz, Marcelo G., Caloca, María J.

Volltext

A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients von SANZ, David J, ACEDO, Alberto, INFANTE, Mar, DURAN, Mercedes, PEREZ-CABORNERO, Lucia, ESTEBAN-CARDENOSA, Eva, LASTRA, Enrique, PAGANI, Franco, MINER, Cristina, VELASCO, Eladio A

Volltext

Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants von Fraile-Bethencourt, Eugenia, Valenzuela-Palomo, Alberto, Díez-Gómez, Beatriz, Infante, Mar, Durán, Mercedes, Marcos, Germán, Lastra, Enrique, Gómez-Barrero, Susana, Velasco, Eladio A.

Volltext

Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer von Zhu, Lizhen, Miao, Beiping, Dymerska, Dagmara, Kuswik, Magdalena, Bueno-Martínez, Elena, Sanoguera-Miralles, Lara, Velasco, Eladio A, Paramasivam, Nagarajan, Schlesner, Matthias, Kumar, Abhishek, Yuan, Ying, Lubinski, Jan, Bandapalli, Obul Reddy, Hemminki, Kari, Försti, Asta

Volltext

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syn... von Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A, Grozeva, Detelina, Raymond, F L, Botella, María P, Tejada, María-Isabel

Volltext