Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

Por Ars, Elisabet, Serra, Eduard, de la Luna, Susana, Estivill, Xavier, Lázaro, Conxi
Publicado em 2000

Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors

Por Garcia-Linares, Carles, Mercadé, Jaume, Gel, Bernat, Biayna, Josep, Terribas, Ernest, Lázaro, Conxi, Serra, Eduard
Publicado em 2012

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment

Por Pros, Eva, Fernández-Rodríguez, Juana, Benito, Llúcia, Ravella, Anna, Capellá, Gabriel, Blanco, Ignacio, Serra, Eduard, Lázaro, Conxi
Publicado em 2010

Longer Telomeres Are Associated with Cancer Risk in MMR-Proficient Hereditary Non-Polyposis Colorectal Cancer

Por Seguí, Nuria, Guinó, Elisabet, Pineda, Marta, Navarro, Matilde, Bellido, Fernando, Lázaro, Conxi, Blanco, Ignacio, Moreno, Victor, Capellá, Gabriel, Valle, Laura
Publicado em 2014

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2

Por Castellanos, Elisabeth, Rosas, Imma, Solanes, Ares, Bielsa, Isabel, Lázaro, Conxi, Carrato, Cristina, Hostalot, Cristina, Prades, Pepe, Roca-Ribas, Francesc, Blanco, Ignacio
Publicado em 2014

Telomere Length and Genetic Anticipation in Lynch Syndrome

Por Seguí, Nuria, Pineda, Marta, Guinó, Elisabet, Borràs, Ester, Navarro, Matilde, Bellido, Fernando, Moreno, Victor, Lázaro, Conxi, Blanco, Ignacio, Capellá, Gabriel, Valle, Laura
Publicado em 2013

ALLELE-SPECIFIC EXPRESSION OF APC IN ADENOMATOUS POLYPOSIS FAMILIES

Por Castellsagué, Ester, González, Sara, Guinó, Elisabet, Stevens, Kristen N., Borràs, Ester, Raymond, Victoria M., Lázaro, Conxi, Blanco, Ignacio, Gruber, Stephen B., Capellá, Gabriel
Publicado em 2010

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2

Por Castellanos, Elisabeth, Rosas, Imma, Solanes, Ares, Bielsa, Isabel, Lázaro, Conxi, Carrato, Cristina, Hostalot, Cristina, Prades, Pepe, Roca-Ribas, Francesc, Blanco, Ignacio, Serra, Eduard
Publicado em 2013

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb

Por 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
Publicado no BMC Med Genomics (2015)

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

Por 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 
Publicado em 2007

Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants

Por 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
Publicado em 2013

Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome

Por 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
Publicado em 2013

Dissecting Loss of Heterozygosity (LOH) in Neurofibromatosis Type 1-Associated Neurofibromas: Importance of Copy Neutral LOH

Por 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
Publicado em 2011

MLH1 methylation screening is effective in identifying epimutation carriers

Por 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
Publicado em 2012

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

Por Mur, Pilar, Elena, Sánchez-Cuartielles, Aussó, Susanna, Aiza, Gemma, Rafael, Valdés-Mas, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Urioste, Miguel, Lázaro, Conxi, Moreno, Victor, Capellá, Gabriel, Puente, Xose S., Valle, Laura
Publicado no Sci Rep (2016)

Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

Por Mur, Pilar, Sánchez-Cuartielles, Elena, Aussó, Susanna, Aiza, Gemma, Valdés-Mas, Rafael, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Urioste, Miguel, Lázaro, Conxi, Moreno, Victor, Capellá, Gabriel, Puente, Xose S., Valle, Laura
Publicado no Sci Rep (2016)

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families

Por Fernández-Rodríguez, Juana, Quiles, Francisco, Blanco, Ignacio, Teulé, Alex, Feliubadaló, Lídia, Valle, Jesús del, Salinas, Mónica, Izquierdo, Àngel, Darder, Esther, Schindler, Detlev, Capellá, Gabriel, Brunet, Joan, Lázaro, Conxi, Pujana, Miguel Angel
Publicado em 2012

MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study

Por Gausachs, Mireia, Mur, Pilar, Corral, Julieta, Pineda, Marta, González, Sara, Benito, Llúcia, Menéndez, Mireia, Espinàs, Josep Alfons, Brunet, Joan, Iniesta, María Dolores, Gruber, Stephen B, Lázaro, Conxi, Blanco, Ignacio, Capellá, Gabriel
Publicado em 2012

Exploring the Link between Germline and Somatic Genetic Alterations in Breast Carcinogenesis

Por Bonifaci, Núria, Górski, Bohdan, Masojć, Bartlomiej, Wokołorczyk, Dominika, Jakubowska, Anna, Dębniak, Tadeusz, Berenguer, Antoni, Serra Musach, Jordi, Brunet, Joan, Dopazo, Joaquín, Narod, Steven A., Lubiński, Jan, Lázaro, Conxi, Cybulski, Cezary, Pujana, Miguel Angel
Publicado em 2010

Gene Expression Analysis Identifies Potential Biomarkers of Neurofibromatosis Type 1 Including Adrenomedullin

Por Hummel, Trent R., Jessen, Walter J., Miller, Shyra J., Kluwe, Lan, Mautner, Victor F., Wallace, Margaret R., Lázaro, Conxi, Page, Grier P., Worley, Paul F., Aronow, Bruce J., Schorry, Elizabeth K., Ratner, Nancy
Publicado no Clin Cancer Res (2010)