Rezultati - Lázaro, Conxi

Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment od Grabenstetter, Anne, Lazaro, Conxi, Turashvili, Gulisa

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Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA od Ars, Elisabet, Serra, Eduard, de la Luna, Susana, Estivill, Xavier, Lázaro, Conxi

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Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors od Garcia-Linares, Carles, Mercadé, Jaume, Gel, Bernat, Biayna, Josep, Terribas, Ernest, Lázaro, Conxi, Serra, Eduard

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Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment od Pros, Eva, Fernández-Rodríguez, Juana, Benito, Llúcia, Ravella, Anna, Capellá, Gabriel, Blanco, Ignacio, Serra, Eduard, Lázaro, Conxi

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GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes od Caleca, Laura, Colombo, Mara, van Overeem Hansen, Thomas, Lázaro, Conxi, Manoukian, Siranoush, Parsons, Michael T., Spurdle, Amanda B., Radice, Paolo

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Longer Telomeres Are Associated with Cancer Risk in MMR-Proficient Hereditary Non-Polyposis Colorectal Cancer od Seguí, Nuria, Guinó, Elisabet, Pineda, Marta, Navarro, Matilde, Bellido, Fernando, Lázaro, Conxi, Blanco, Ignacio, Moreno, Victor, Capellá, Gabriel, Valle, Laura

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In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2 od Castellanos, Elisabeth, Rosas, Imma, Solanes, Ares, Bielsa, Isabel, Lázaro, Conxi, Carrato, Cristina, Hostalot, Cristina, Prades, Pepe, Roca-Ribas, Francesc, Blanco, Ignacio

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Telomere Length and Genetic Anticipation in Lynch Syndrome od Seguí, Nuria, Pineda, Marta, Guinó, Elisabet, Borràs, Ester, Navarro, Matilde, Bellido, Fernando, Moreno, Victor, Lázaro, Conxi, Blanco, Ignacio, Capellá, Gabriel, Valle, Laura

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ALLELE-SPECIFIC EXPRESSION OF APC IN ADENOMATOUS POLYPOSIS FAMILIES od Castellsagué, Ester, González, Sara, Guinó, Elisabet, Stevens, Kristen N., Borràs, Ester, Raymond, Victoria M., Lázaro, Conxi, Blanco, Ignacio, Gruber, Stephen B., Capellá, Gabriel

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In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2 od Castellanos, Elisabeth, Rosas, Imma, Solanes, Ares, Bielsa, Isabel, Lázaro, Conxi, Carrato, Cristina, Hostalot, Cristina, Prades, Pepe, Roca-Ribas, Francesc, Blanco, Ignacio, Serra, Eduard

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Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements od Turashvili, Gulisa, Lazaro, Conxi, Ying, Shengjie, Charames, George, Wong, Andrew, Hamilton, Krista, Yee, Denise, Agro, Evangeline, Chang, Martin, Pollett, Aaron, Lerner-Ellis, Jordan

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Evaluation of CNV detection tools for NGS panel data in genetic diagnostics od Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat

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RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant od Rofes, Paula, Pineda, Marta, Feliubadaló, Lídia, Menéndez, Mireia, de Cid, Rafael, Gómez, Carolina, Montes, Eva, Capellá, Gabriel, Brunet, Joan, del Valle, Jesús, Lázaro, Conxi

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Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb od Castellanos, Elisabeth, Bielsa, Isabel, Carrato, Cristina, Rosas, Imma, Solanes, Ares, Hostalot, Cristina, Amilibia, Emilio, Prades, José, Roca-Ribas, Francesc, Lázaro, Conxi, Blanco, Ignacio, Serra, Eduard

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Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation od Biayna, Josep, Mazuelas, Helena, Gel, Bernat, Terribas, Ernest, Dumbovic, Gabrijela, Rosas, Inma, Fernández-Rodriguez, Juana, Blanco, Ignacio, Castellanos, Elisabeth, Carrió, Meritxell, Lazaro, Conxi, Serra, Eduard

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Mosaicism in PTEN—new case and comment on the literature od Rofes, Paula, Teulé, Álex, Feliubadaló, Lídia, Salinas, Mònica, Cuesta, Raquel, Iglesias, Sílvia, Campos, Olga, González, Sara, Capellá, Gabriel, Brunet, Joan, del Valle, Jesús, Lázaro, Conxi

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Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination od Steinmann, Katharina , Cooper, David N. , Kluwe, Lan , Chuzhanova, Nadia A. , Senger, Cornelia , Serra, Eduard , Lazaro, Conxi , Gilaberte, Montserrat , Wimmer, Katharina , Mautner, Viktor-Felix , Kehrer-Sawatzki, Hildegard 

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Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants od Quiles, Francisco, Fernández-Rodríguez, Juana, Mosca, Roberto, Feliubadaló, Lídia, Tornero, Eva, Brunet, Joan, Blanco, Ignacio, Capellá, Gabriel, Pujana, Miquel Àngel, Aloy, Patrick, Monteiro, Alvaro, Lázaro, Conxi

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Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome od Bellido, Fernando, Guinó, Elisabet, Jagmohan-Changur, Shantie, Seguí, Nuria, Pineda, Marta, Navarro, Matilde, Lázaro, Conxi, Blanco, Ignacio, Vasen, Hans FA, Moreno, Victor, Capellá, Gabriel, Wijnen, Juul T, Valle, Laura

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Dissecting Loss of Heterozygosity (LOH) in Neurofibromatosis Type 1-Associated Neurofibromas: Importance of Copy Neutral LOH od Garcia-Linares, Carles, Fernández-Rodríguez, Juana, Terribas, Ernest, Mercadé, Jaume, Pros, Eva, Benito, Llúcia, Benavente, Yolanda, Capellà, Gabriel, Ravella, Anna, Blanco, Ignacio, Kehrer-Sawatzki, Hildegard, Lázaro, Conxi, Serra, Eduard

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