Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Andre Yuji Oku"'
Autor:
Ana Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, Andre Yuji Oku, Alexandre Ricardo dos Santos Fornari, David Santos Marco Antonio, Caio Robledo D Angioli Costa Quaio, Wagner Rosa Baratela, Miguel Mitne-Neto
Publikováno v:
Human Genomics, Vol 11, Iss 1, Pp 1-9 (2017)
Abstract Background Breast cancer is the most common among women worldwide, and ovarian cancer is the most difficult gynecological tumor to diagnose and with the lowest chance of cure. Mutations in BRCA1 and BRCA2 genes increase the risk of ovarian c
Externí odkaz:
https://doaj.org/article/d5dfb10425c949e9979cec408894b6bf
Autor:
Rodrigo Fernandes Ramalho, Michele Groenner Penna, Wagner A.R. Baratela, Shirley Dezan Matalhana, Cintia Reys Furuzawa, Ana Lígia Buzolin, Gil M. Novo-Filho, Maria de Lourdes Lopes Ferrari Chauffaille, Aurelio Pimenta Dutra, Gustavo Marquezani Spolador, Vinícius Ceola Pereira, Aline Dos Santos Borgo Perazzio, Chong Ae Kim, Otavio Jose Eulalio Pereira, Ana Lúcia Catelani, Alexandre Ricardo dos Santos Fornari, Monize Nakamoto Provisor Santos, Javier Miguelez, Vanessa Galdeno Freitas, Vanessa Dionisio Cantagalli, Ana Carolina Gomes Trindade, Patricia Rossi Sacramento-Bobotis, Daniele Paixão, Caroline Olivati, Gustavo Arantes Rosa Maciel, Caio Robledo D'Angioli Costa Quaio, Mário Henrique Burlacchini de Carvalho, Elisa Napolitano Ferreira, Fernanda Verzini, Rafael Alves da Silva, Vanessa Yurie Nozaki de Arruda, David Santos Marco Antonio, Alexandre Wagner Silva de Souza, Naiade Romano, Viviane Z. Rocha, Caroline Monaco Moreira, Rafaela Rogerio Floriano de Sousa, Miguel Mitne-Neto, Matheus Carvalho Bürger, Sandro Félix Perazzio, Luis Eduardo Coelho Andrade, Maria Carolina Pintao, Andre Yuji Oku
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)
Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 prim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1f1b47f0c825ea9c12a5db9076f3b2
https://pubmed.ncbi.nlm.nih.gov/33258288
https://pubmed.ncbi.nlm.nih.gov/33258288
Autor:
Caio Robledo D'Angioli Costa Quaio, Caroline Monaco Moreira, David Santos Marco Antonio, Miguel Mitne-Neto, Ana Lígia Buzolin, Patricia Rossi Sacramento, Alexandre Ricardo dos Santos Fornari, Andre Yuji Oku, Wagner A.R. Baratela
Publikováno v:
Human Genomics, Vol 11, Iss 1, Pp 1-9 (2017)
Human Genomics
Human Genomics
Background Breast cancer is the most common among women worldwide, and ovarian cancer is the most difficult gynecological tumor to diagnose and with the lowest chance of cure. Mutations in BRCA1 and BRCA2 genes increase the risk of ovarian cancer by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4668f2cebeef6dcada9d8191cabc8d5
http://link.springer.com/article/10.1186/s40246-017-0110-x
http://link.springer.com/article/10.1186/s40246-017-0110-x
Autor:
Matheus Carvalho Bürger, Maria Carolina Pintão, Gabriela Rampazzo Valim, Andre Yuji Oku, Ilka Lopes Santoro, Miguel Mitne Neto, Luciana Guilhermino Pereira, Monica Maria Agata Stiepcich, Otavio Jose Eulalio, Luciana Peniche Moreira, Raquel Stabellini, Elisa Napolitano Ferreira, Aloisio Souza Felipe-Silva, Rodrigo Fernandes Ramalho, Gisele W. B. Colleoni, Alexandre Ricardo dos Santos Fornari, David Santos Marco Antonio, Ana Maria Fraga
Publikováno v:
Journal of Clinical Oncology. 37:e13148-e13148
e13148 Background: Tumor mutation profiling has become a key component for orienteering the treatment of oncologic patients. A crucial step for this is the correct identification and classification of pathogenic and actionable variants. In the presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c7903ca7adfa4e09985119a94ebae83
https://doi.org/10.1200/jco.2019.37.15_suppl.e13148
https://doi.org/10.1200/jco.2019.37.15_suppl.e13148
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred
Autor:
Eugenia Verônica Hernandez Orchard, Marina M. L. Kizys, Silvia R. Correa-Silva, Rafael Filipelli, Magnus R. Dias-da-Silva, David Santos Marco Antonio, Jessica da Silva Fausto, Flávia A. Costa-Barbosa, Miguel Mitne-Neto, Andre Yuji Oku, Gilberto K. Furuzawa
Publikováno v:
Journal of Neuroendocrinology. 30:e12658
Congenital hypogonadotrophic hypogonadism (CHH) is a challenging inherited endocrine disorder characterised by absent or incomplete pubertal development and infertility as a result of the low action/secretion of the hypothalamic gonadotrophin-releasi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec7d47c1dc1a47e3b9f42bb7a329f7f
https://doi.org/10.1111/jne.12658
https://doi.org/10.1111/jne.12658