Allan-Herndon-Dudley syndrome in a female patient and related mechanisms

por Olivati, Caroline, Favilla, Bianca Pereira, Freitas, Erika Lopes, Santos, Bibiana, Melaragno, Maria Isabel, Meloni, Vera Ayres, Piazzon, Flavia
Publicado 2022

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience

por Lima, José V, Scalissi, Nilza M, de Oliveira, Kelly C, Lindsey, Susan C, Olivati, Caroline, Ferreira, Elisa Napolitano, Kater, Claudio E
Publicado 2023

THU522 Symptomatic Hypoglycemia As The First Manifestation Of Multiple Endocrine Neoplasia Type 1 (MEN-1): Case Report

por Oliveira, Vitória Dupas, Tormin, Stephanie Corradini, Dias, Bruna Vieira, Scalissi, Nilza, Cunha Scalco, Renata Da, Olivati, Caroline, de Moricz, Andre, Szutan, Luiz Arnaldo, Lima, Jose Viana
Publicado 2023

Simultaneous Occurrence of Germline Pathogenic Allele Variants of TMEM127 and TP53 in a Brazilian Family With Li-Fraumeni Syndrome

por Lima, Jose Viana, Scalissi, Nilza Maria, Ricardo, Gustavo Piech, Piech, Mr Gustavo, Biscolla, Rosa Paula Mello, Chiamolera, Maria Izabel, Olivati, Caroline, Baratela, Wagner, Ferreira, Elisa Napolitano, Kater, Claudio E
Publicado 2021

THU523 A Rare Case Of Functional Cervical Paraganglioma: Case Report

por Oliveira, Vitória Dupas, Vaccarezza, Guilherme Cavazzani, Rodrigues Vieira, Alysson Emannuel Neves, Scalissi, Nilza Maria, dos Santos, Américo Rubens Leite, Lazarini, Paulo Roberto, Suehara, Alexandre Baba, Olivati, Caroline, Lima, Jose Viana
Publicado 2023

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases

por Quaio, Caio Robledo D’Angioli Costa, Obando, María José Rivadeneira, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Chung, Christine Hsiaoyun, Moreira, Caroline Monaco, Novo, Gil Monteiro, Sacramento-Bobotis, Patricia Rossi, Penna, Michele Groenner, de Souza, Rafaela Rogerio Floriano, Cintra, Vivian Pedigone, Carnavalli, Juliana Emilia Prior, da Silva, Rafael Alves, Santos, Monize Nakamoto Provisor, Paixão, Daniele, Baratela, Wagner Antonio da Rosa, Olivati, Caroline, Spolador, Gustavo Marquezani, Pintao, Maria Carolina, Fornari, Alexandre Ricardo dos Santos, Burger, Matheus, Ramalho, Rodrigo Fernandes, Pereira, Otavio Jose Eulalio, Ferreira, Elisa Napolitano e, Mitne-Neto, Miguel, Kim, Chong Ae
Publicado 2021