3 documents found, page 1 of 1
CLINICAL AND MUTATIONAL ANALYSIS OF A COHORT OF PORTUGUESE PATIENTS WITH PARAGA...
Rodrigues, Roger; R. Almeida, Maria; Carreiro, João; Assunção, António; Braga, Sandrina; Sousa, Joel; Camacho, Nelson; Garrido, Pedro; Maia, MiguelIntroduction: Representing 0.03% of all tumors, paragangliomas (PGLs) are extremely rare. During the past 15 years, there has been a significant progress in the knowledge of the genetics of PGLs. Germline mutations in succinate dehy- drogenase (SDH) genes are the commonest genetic cause of PGL. Objective: Given the high clinical relevance of the SDH status, we aimed to evaluate the diagnostic and prognostic val...
NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEO
Rodrigues, Roger; Almeida, Maria; Carreiro, João; Mendes, Carolina; Varino, Juliana; Marinho, André; Pereira, Bárbara; Moreira, Mário; Botelho, MafaldaParagangliomas (PGLs) are neuroendocrine neoplasms that can occur throughout the body wherever there is paraganglia. Representing 0.03% of all tumours, PGLs are extremely rare. Although predominantly benign and amenable to cure by surgical ressection, up to 6% can be malignant. To date, three genes have been identified that are associated with Familial PGLs. All three encode subunits (D, B and C) of the enzyme ...
Cooperação entre a comunidade e o ensino superior
Abreu, Madalena; Bigotte De Almeida, Maria Emília; Brites, Claudia; Araújo, Inês; Capitão, Silvino; Chang, Nelson; Carvalho, Vera; Carreiro, João