Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment

od Grabenstetter, Anne, Lazaro, Conxi, Turashvili, Gulisa
Wydane w Front Oncol (2020)

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
Wydane 2000

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
Wydane 2012

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
Wydane 2010

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
Wydane w Cancers (Basel) (2019)

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
Wydane 2014

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
Wydane 2014

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
Wydane 2013

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
Wydane 2010

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
Wydane 2013

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
Wydane w Cancers (Basel) (2020)

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
Wydane w Eur J Hum Genet (2020)

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
Wydane w BMC Med Genomics (2015)

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
Wydane w Sci Rep (2021)

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 
Wydane 2007

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
Wydane 2013

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
Wydane 2013

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
Wydane 2011

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas

od Belhadj, Sami, Quintana, Isabel, Mur, Pilar, Munoz-Torres, Pau M., Alonso, M. Henar, Navarro, Matilde, Terradas, Mariona, Piñol, Virginia, Brunet, Joan, Moreno, Victor, Lázaro, Conxi, Capellá, Gabriel, Valle, Laura
Wydane w Sci Rep (2019)

MLH1 methylation screening is effective in identifying epimutation carriers

od Pineda, Marta, Mur, Pilar, Iniesta, María Dolores, Borràs, Ester, Campos, Olga, Vargas, Gardenia, Iglesias, Sílvia, Fernández, Anna, Gruber, Stephen B, Lázaro, Conxi, Brunet, Joan, Navarro, Matilde, Blanco, Ignacio, Capellá, Gabriel
Wydane 2012