Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

por Acedo, Alberto, Hernández-Moro, Cristina, Curiel-García, Álvaro, Díez-Gómez, Beatriz, Velasco, Eladio A
Publicado 2015

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays

por Fraile-Bethencourt, Eugenia, Valenzuela-Palomo, Alberto, Díez-Gómez, Beatriz, Acedo, Alberto, Velasco, Eladio A.
Publicado 2018

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

por Gailite, Linda, Valenzuela-Palomo, Alberto, Sanoguera-Miralles, Lara, Rots, Dmitrijs, Kreile, Madara, Velasco, Eladio A.
Publicado 2020

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

por Acedo, Alberto, Sanz, David J, Durán, Mercedes, Infante, Mar, Pérez-Cabornero, Lucía, Miner, Cristina, Velasco, Eladio A
Publicado 2012

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18

por Fraile-Bethencourt, Eugenia, Díez-Gómez, Beatriz, Velásquez-Zapata, Valeria, Acedo, Alberto, Sanz, David J., Velasco, Eladio A.
Publicado 2017

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

por Fraile-Bethencourt, Eugenia, Valenzuela-Palomo, Alberto, Díez-Gómez, Beatriz, Caloca, María José, Gómez-Barrero, Susana, Velasco, Eladio A.
Publicado 2019

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...

por Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A., Grozeva, Detelina, Raymond, F. L., Botella, María P., Tejada, María-Isabel
Publicado 2018

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QO(Madrid)

por 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
Publicado 2014

Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer

por 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
Publicado 2022

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

por Bueno-Martínez, Elena, Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Lorca, Víctor, Gómez-Sanz, Alicia, Carvalho, Sara, Allen, Jamie, Infante, Mar, Pérez-Segura, Pedro, Lázaro, Conxi, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.
Publicado 2021

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene

por Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Bueno-Martínez, Elena, Llovet, Patricia, Díez-Gómez, Beatriz, Caloca, María José, Pérez-Segura, Pedro, Fraile-Bethencourt, Eugenia, Colmena, Marta, Carvalho, Sara, Allen, Jamie, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.
Publicado 2020

Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants

por 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, de la Hoya, Miguel, Velasco, Eladio A
Publicado 2021

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

por 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
Publicado 2013

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

por 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 A, Southey, Melissa, Vreeswijk, Maaike P G, Devilee, Peter, Kvist, Anders, Spurdle, Amanda B, Walker, Logan C, Krieger, Sophie, de la Hoya, Miguel
Publicado 2019