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

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A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR von Perez-Cabornero, Lucia, Velasco, Eladio, Infante, Mar, Sanz, David, Lastra, Enrique, Hernández, Lara, Miner, Cristina, Duran, Mercedes

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Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2 von Pérez-Cabornero, Lucia, Infante Sanz, Mar, Velasco Sampedro, Eladio, Lastra Aras, Enrique, Acedo Becares, Alberto, Miner Pino, Cristina, Durán Domínguez, Mercedes

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High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain) von Infante, Mar, Durán, Mercedes, Esteban-Cardeñosa, Eva, Miner, Cristina, Velasco, Eladio

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Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype von Pérez-Cabornero, Lucia, Borrás Flores, Ester, Infante Sanz, Mar, Velasco Sampedro, Eladio, Acedo Becares, Alberto, Lastra Aras, Enrique, Cuevas González, Jorge, Pineda Riu, Marta, Ramón y Cajal Asensio, Teresa, Capellá Munar, Gabriel, Miner Pino, Cristina, Durán Domínguez, Mercedes

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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

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The int-2 proto-oncogene is responsible for induction of the inner ear von Represa, Juan, León, Yolanda, Miner, Cristina, Giraldez, Fernando

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Genotype–phenotype correlation in MMR mutation-positive families with Lynch syndrome von Pérez-Cabornero, Lucía, Infante, Mar, Velasco, Eladio, Lastra, Enrique, Miner, Cristina, Durán, Mercedes

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The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins von Infante, Mar, Durán, Mercedes, Acedo, Alberto, Sánchez-Tapia, Eva María, Díez-Gómez, Beatriz, Barroso, Alicia, García-González, María, Feliubadaló, Lídia, Lasa, Adriana, de la Hoya, Miguel, Esteban-Cardeñosa, Eva, Díez, Orland, Martínez-Bouzas, Cristina, Godino, Javier, Teulé, Alexandre, Osorio, Ana, Lastra, Enrique, González-Sarmiento, Rogelio, Miner, Cristina, Velasco, Eladio A

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Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays von Pérez-Cabornero, Lucia, Infante, Mar, Velasco, Eladio, Lastra, Enrique, Miner, Cristina, Durán, Mercedes

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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects von Díez, Orland, Osorio, Ana, Durán, Mercedes, Martinez-Ferrandis, José Ignacio, Hoya, Miguel de la, Salazar, Raquel, Vega, Ana, Campos, Berta, Rodríguez-López, Raquel, Velasco, Eladio, Chaves, Javier, Díaz-Rubio, Eduardo, Jesús Cruz, Juan, Torres, María, Esteban, Eva, Cervantes, Andrés, Alonso, Carmen, San Román, Juan Manuel, González-Sarmiento, Rogelio, Miner, Cristina, Carracedo, Angel, Eugenia Armengod, María, Caldés, Trinidad, Benítez, Javier, Baiget, Montserrat

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Genomic Rearrangements at the BRCA1 Locus in Spanish Families with Breast/Ovarian Cancer von de la Hoya, Miguel, Gutierrez-Enriquez, Sara, Velasco, Eladio, Osorio, Ana, de Abajo, Ana Sanchez, Vega, Ana, Salazar, Raquel, Esteban, Eva, Llort, Gemma, Gonzalez-Sarmiento, Rogelio, Carracedo, Angel, Benitez, Javier, Miner, Cristina, Diez, Orland, Diaz-Rubio, Eduardo, Caldes, Trinidad

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Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes von Velasco, Eladio, Infante, Mar, Durán, Mercedes, Pérez-Cabornero, Lucía, Sanz, David J, Esteban-Cardeñosa, Eva, Miner, Cristina

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Physiological [Ca 2+ ] i level and pump-leak turnover in intact red cells measured using an incorporated Ca chelator von Lew, Virgilio L, Tsien, Roger Y, Miner, Cristina, Bookchin, Robert M

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Two founder BRCA2 mutations predispose to breast cancer in young women von Infante, Mar, Durán, Mercedes, Lasa, Adriana, Acedo, Alberto, de la Hoya, Miguel, Esteban-Cardeñosa, Eva, Sanz, David J, Pérez-Cabornero, Lucia, Lastra, Enrique, Miner, Cristina, Velasco, Eladio A

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Two founder mutations predispose to breast cancer in young women von Infante, Mar, Durán, Mercedes, Lasa, Adriana, Acedo, Alberto, Hoya, Miguel, Esteban-Cardeñosa, Eva, Sanz, David J., Pérez-Cabornero, Lucia, Lastra, Enrique, Miner, Cristina, Velasco, Eladio A.

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High-Throughput Mutation Detection Method to Scan BRCA1 and BRCA2 Based on Heteroduplex Analysis by Capillary Array Electrophoresis von Esteban-Cardenosa, Eva, Duran, Mercedes, Infante, Mar, Velasco, Eladio, Miner, Cristina

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Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis von Velasco, Eladio, Infante, Mar, Durán, Mercedes, Esteban-Cardeñosa, Eva, Lastra, Enrique, García-Girón, Carlos, Miner, Cristina

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Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: Identification of four novel truncating mutations von Duran, Mercedes, Esteban-Cardeñosa, Eva, Velasco, Eladio, Infante, Mar, Miner, Cristina

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The variant E233G of the RAD51D gene could be a low‐penetrance allele in high‐risk breast cancer families without BRCA1/2 mutations von Rodríguez‐López, Raquel, Osorio, Ana, Ribas, Gloria, Pollán, Marina, Sánchez‐Pulido, Luis, de la Hoya, Miguel, Ruibal, Álvaro, Zamora, Pilar, Arias, Jose Ignacio, Salazar, Raquel, Vega, Ana, Martínez, Jose Ignacio, Esteban‐Cardeñosa, Eva, Alonso, Carmen, Letón, Rocío, Urioste Azcorra, Miguel, Miner, Cristina, Armengod, M. Eugenia, Carracedo, Angel, González‐Sarmiento, Rogelio, Caldés, Trinidad, Díez, Orland, Benítez, Javier

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