DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1‐associated sarcoma

por Apellaniz‐Ruiz, Maria, Cullinan, Noelle, Grant, Ronald, Marrano, Paula, Priest, John R, Thorner, Paul S, Goudie, Catherine, Foulkes, William D
Publicado 2020

Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation

por Espinosa, Marta, Roldán-Romero, Juan Maria, Duran, Ignacio, de Álava, Enrique, Apellaniz-Ruiz, María, Cascón, Alberto, Garrigos, Carmen, Robledo, Mercedes, Rodriguez-Antona, Cristina
Publicado 2018

Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer

por Pascual, Tomas, Apellániz-Ruiz, María, Pernaut, Cristina, Cueto-Felgueroso, Cecilia, Villalba, Pablo, Álvarez, Carlos, Manso, Luis, Inglada-Pérez, Lucia, Robledo, Mercedes, Rodríguez-Antona, Cristina, Ciruelos, Eva
Publicado 2017

Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis

por Apellaniz-Ruiz, Maria, Sabbaghian, Nelly, Chong, Anne-Laure, de Kock, Leanne, Cetinkaya, Semra, Bayramoğlu, Elvan, Dinjens, Winand N. M., McCluggage, W. Glenn, Wagner, Anja, Yilmaz, Aslihan Arasli, Foulkes, William D.
Publicado 2023

Genetic polymorphisms of SCN9A are associated with oxaliplatin-induced neuropathy

por Sereno, María, Gutiérrez-Gutiérrez, Gerardo, Rubio, Juan Moreno, Apellániz-Ruiz, María, Sánchez-Barroso, Lara, Casado, Enrique, Falagan, Sandra, López-Gómez, Miriam, Merino, María, Gómez-Raposo, César, Rodriguez-Salas, Nuria, Tébar, Francisco Zambrana, Rodríguez-Antona, Cristina
Publicado 2017

RARE-22. GERMLINE PATHOGENIC VARIANT c.1552G>A;p.E518K IN DGCR8 CONFERS SUSCEPTIBILITY FOR SCHWANNOMATOSIS AND THYROID TUMORS

por Chong, Anne-Sophie, Nadaf, Javad, Grau, Elia, Apellaniz-Ruiz, Maria, Fahiminiya, Somayyeh, Saskin, Avi, Han, HyeRim, Turcotte, Robert, Muchantef, Karl, Thomas, Christian, Wagener, Rabea, Bassenden, Angelia, Mete, Ozgur, Pusztaszeri, Marc, Paulus, Werner, Berghuis, Albert, Siebert, Reiner, Albrecht, Steffen, Hasselblatt, Martin, Lazaro, Conxi, Teule, Alexander, Fabian, Marc, Brunet, Joan, Foulkes, William, Rivera, Barbara
Publicado 2020