Výsledky vyhledávání - "Otavio Jose Eulalio"

Akademický článek

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

Publikováno v: Genetics and Molecular Biology, Vol 44, Iss 4 (2021)

Abstract Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting the best diagnostic approach. Ou

Externí odkaz: https://doaj.org/article/97c8f41074ef4568b2175fd4c558f870

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Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187:364-372

Several Mendelian disorders follow an autosomal recessive inheritance pattern. Epidemiological information on many inherited disorders may be useful to guide health policies for rare diseases, but it is often inadequate, particularly in developing co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fd32bc40c0e902546254bf724a82a06
https://doi.org/10.1002/ajmg.c.31932

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

Publikováno v: Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: 20210061, Published: 29 SEP 2021
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 44, Iss 4 (2021)

Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting the best diagnostic approach. Our goal is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2435b78582d7184027172630d0266240
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600102&lng=en&tlng=en

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Akademický článek

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Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

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

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Akademický článek

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Performance and validation of a tumor mutation profiling, based on artificial intelligence annotation, to assist oncology decision making

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

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Akademický článek

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

Autor: Quaio CRDC; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas (HCFMUSP), Instituto da Criança, São Paulo, SP, Brazil.; Fleury Medicina e Saúde, São Paulo, SP, Brazil.; Hospital Israelita Albert Einstein, Laboratório Clínico, São Paulo, SP, Brazil., Obando MJR; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas (HCFMUSP), Instituto da Criança, São Paulo, SP, Brazil., Perazzio SF; Fleury Medicina e Saúde, São Paulo, SP, Brazil.; Universidade Federal de São Paulo, Divisão de Reumatologia, São Paulo, SP, Brazil., Dutra AP; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Chung CH; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Moreira CM; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Novo Filho GM; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Sacramento-Bobotis PR; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Penna MG; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Souza RRF; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Cintra VP; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Carnavalli JEP; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Silva RAD; Fleury Medicina e Saúde, São Paulo, SP, Brazil.; Universidade Federal de São Paulo, Escola Paulista de Medicina, Laboratório de Hepatologia Molecular Aplicada (LHeMA), São Paulo, SP, Brazil., Santos MNP; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Paixão D; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Baratela WADR; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Olivati C; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Spolador GM; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas (HCFMUSP), Instituto da Criança, São Paulo, SP, Brazil.; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Pintao MC; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Fornari ARDS; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Burger M; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Ramalho RF; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Pereira OJE; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Ferreira ENE; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Mitne-Neto M; Fleury Medicina e Saúde, São Paulo, SP, Brazil., Kim CA; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas (HCFMUSP), Instituto da Criança, São Paulo, SP, Brazil.

Publikováno v: Genetics and molecular biology [Genet Mol Biol] 2021 Sep 29; Vol. 44 (4), pp. 20210061. Date of Electronic Publication: 2021 Sep 29 (Print Publication: 2021).

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