Not logged in Share Save
Share Save
Share Save
Share Save
Share Save
Share Save
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays Fortuno, Cristina; Llinares-Burguet, Ines; Canson, Daffodil M.; de la Hoya, Miguel; Bueno-Martinez, Elena; Sanoguera-Miralles, Lara; Caldes, Sonsoles; James, Paul A.; Velasco-Sampedro, Eladio A.; Spurdle, Amanda B. Share Save
Share Save
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants Sanoguera-Miralles, Lara; Llinares-Burguet, Ines; Bueno-Martinez, Elena; Ramadane-Morchadi, Lobna; Stuani, Cristiana; Valenzuela-Palomo, Alberto; Garcia-Alvarez, Alicia; Perez-Segura, Pedro; Buratti, Emanuele; de la Hoya, Miguel; Velasco-Sampedro, Eladio A. Share Save
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants Sanoguera-Miralles, Lara; Valenzuela-Palomo, Alberto; Bueno-Martinez, Elena; Esteban-Sanchez, Ada; Lorca, Victor; Llinares-Burguet, Ines; Garcia-alvarez, Alicia; Perez-Segura, Pedro; Infante, Mar; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; de la Hoya, Miguel; Velasco-Sampedro, Eladio A. Share Save
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants Bueno-Martinez, Elena; Sanoguera-Miralles, Lara; Valenzuela-Palomo, Alberto; Esteban-Sanchez, Ada; Lorca, Victor; Llinares-Burguet, Ines; Allen, Jamie; Garcia-Alvarez, Alicia; Perez-Segura, Pedro; Duran, Mercedes; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; de la Hoya, Miguel; Velasco-Sampedro, Eladio A. Share Save
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants Valenzuela-Palomo, Alberto; Bueno-Martinez, Elena; Sanoguera-Miralles, Lara; Lorca, Victor; Fraile-Bethencourt, Eugenia; Esteban-Sanchez, Ada; Gomez-Barrero, Susana; Carvalho, Sara; Allen, Jamie; Garcia-Alvarez, Alicia; Perez-Segura, Pedro; Dorling, Leila; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; de la Hoya, Miguel; Velasco, Eladio A. Share Save
Share Save
Share Save
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G>T as a case study Montalban, Gemma; Fraile-Bethencourt, Eugenia; Lopez-Perolio, Irene; Perez-Segura, Pedro; Infante, Mar; Duran, Mercedes; Concepcion Alonso-Cerezo, Maria; Lopez-Fernandez, Adria; Diez, Orland; de la Hoya, Miguel; Velasco, Eladio A.; Gutierrez-Enriquez, Sara Share Save
Share Save
Share Save
Share Save
Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants Ruiz de Garibay, Gorka; Acedo, Alberto; Garcia-Casado, Zaida; Gutierrez-Enriquez, Sara; Tosar, Alicia; Romero, Atocha; Garre, Pilar; Llort, Gemma; Thomassen, Mads; Diez, Orland; Perez-Segura, Pedro; Diaz-Rubio, Eduardo; Velasco, Eladio A.; Caldes, Trinidad; de la Hoya, Miguel Share Save
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins Infante, Mar; Duran, Mercedes; Acedo, Alberto; Maria Sanchez-Tapia, Eva; Diez-Gomez, Beatriz; Barroso, Alicia; Garcia-Gonzalez, Maria; Feliubadalo, Lidia; Lasa, Adriana; de la Hoya, Miguel; Esteban-Cardenosa, Eva; Diez, Orland; Martinez-Bouzas, Cristina; Godino, Javier; Teule, Alexandre; Osorio, Ana; Lastra, Enrique; Gonzalez-Sarmiento, Rogelio; Miner, Cristina; Velasco, Eladio A. Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
