SUN-138 Functional Characterization of Tumor-Associated Germline TMEM127 Variants Reveals Novel Insights into Membrane Topology and Protein Trafficking

por Flores, Shahida, Zhang, Xingyu, Cheng, Ming, Dahia, Patricia L
Publicado 2020

A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With anSDHC Germline Mutation

por Ong, Raquel Kristin S, Flores, Shahida K, Reddick, Robert L, Dahia, Patricia L M, Shawa, Hassan
Publicado 2018

OR29-5 New Insights into the Genotype/Phenotype Profile of TMEM127 Germline Mutations

por Armaiz-Pena, Gustavo, Flores, Shahida, Cheng, Zi-Ming, Deng, Yilun, Koops, Maureen, Bruder, Jan, Dahia, Patricia
Publicado 2019

Insights into Mechanisms of Pheochromocytomas and Paragangliomas Driven by Known or New Genetic Drivers

por Flores, Shahida K., Estrada-Zuniga, Cynthia M., Thallapureddy, Keerthi, Armaiz-Peña, Gustavo, Dahia, Patricia L. M.
Publicado 2021

Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma

por Buffet, Alexandre, Calsina, Bruna, Flores, Shahida, Giraud, Sophie, Lenglet, Marion, Romanet, Pauline, Deflorenne, Elisa, Aller, Javier, Bourdeau, Isabelle, Bressac-de Paillerets, Brigitte, Calatayud, María, Dehais, Caroline, De Mones Del Pujol, Erwan, Elenkova, Atanaska, Herman, Philippe, Kamenický, Peter, Lejeune, Sophie, Sadoul, Jean Louis, Barlier, Anne, Richard, Stephane, Favier, Judith, Burnichon, Nelly, Gardie, Betty, Dahia, Patricia L, Robledo, Mercedes, Gimenez-Roqueplo, Anne-Paule
Publicado 2020