Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Elisa Napolitano Ferreira"'
Autor:
Rafael Buck Giorgi, Priscila Teixeira Aroucha, Thalissa M. Favreto, Micaela F. Montero, Julia M. F. Velloni, Ilana Korkes, Elisa Napolitano Ferreira, Caroline Olivati, Jose Viana Lima, Claudio E. Kater, Flavia A. Costa-Barbosa
Publikováno v:
Case Reports in Obstetrics and Gynecology, Vol 2024 (2024)
Hypertension (HT) during pregnancy is not an infrequent obstetric problem, reaching a prevalence of 5-10%. This condition is highly associated with both maternal and fetal complications if not precisely diagnosed and managed. Even though primary HT,
Externí odkaz:
https://doaj.org/article/f5b46d6e98ff4679898a6e333fa27a4a
Autor:
José V Lima Jr, Nilza M Scalissi, Kelly C de Oliveira, Susan C Lindsey, Caroline Olivati, Elisa Napolitano Ferreira, Claudio E Kater
Publikováno v:
Endocrine Oncology, Vol 3, Iss 1, Pp 1-11 (2023)
Pheochromocytoma and paragangliomas (PPGLs) are rare neuroendocrine tumors carrying 25–40% pathogenic germline gene variants (PGVs). We evaluated clinical, laboratory, and germline molecular profile of 115 patients with pathologic (14 patients were
Externí odkaz:
https://doaj.org/article/68f533451d434d4693946c33b9d66f78
Autor:
Elisa Napolitano Ferreira, Rafael Canfield Brianese, Renan Valieris Bueno de Almeida, Rodrigo Duarte Drummond, Jorge Estefano de Souza, Israel Tojal da Silva, Sandro José de Souza, Dirce Maria Carraro
Publikováno v:
Translational Oncology, Vol 12, Iss 11, Pp 1453-1460 (2019)
The majority of the hereditary triple-negative breast cancers (TNBCs) are associated with BRCA1 germline mutations. Nevertheless, the understanding of the role of BRCA1 deficiency in the TNBC tumorigenesis is poor. In this sense, we performed whole-e
Externí odkaz:
https://doaj.org/article/5eeb39d38bac49e6a75a625d637d8fe2
Autor:
Dirce Maria Carraro, Elisa Napolitano Ferreira, Gustavo de Campos Molina, Renato David Puga, Eduardo Fernandes Abrantes, Adriana Priscila Trapé, Bedrich L Eckhardt, Diana Noronha Nunes, Maria Mitzi Brentani, Wadih Arap, Renata Pasqualini, Helena Brentani, Emmanuel Dias-Neto, Ricardo Renzo Brentani
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e21022 (2011)
We report the first quantitative and qualitative analysis of the poly (A)⁺ transcriptome of two human mammary cell lines, differentially expressing (human epidermal growth factor receptor) an oncogene over-expressed in approximately 25% of human br
Externí odkaz:
https://doaj.org/article/11de31141a2749b8b8c448d12b996b31
Autor:
Dirce Maria Carraro, Elisa Napolitano Ferreira, Gustavo de Campos Molina, Renato David Puga, Eduardo Fernandes Abrantes, Adriana Priscila Trapé, Bedrich L. Ekhardt, Diana Noronha Nunes, Maria Mitzi Brentani, Wadih Arap, Renata Pasqualini, Helena Brentani, Emmanuel Dias-Neto, Ricardo Renzo Brentani
Publikováno v:
PLoS ONE, Vol 6, Iss 7 (2011)
Externí odkaz:
https://doaj.org/article/2efc7c5b67974efd8f98edff5b9bd8e8
Autor:
Matheus Carvalho Bürger, Patricia Rossi Sacramento-Bobotis, Sandro Félix Perazzio, Monize Nakamoto Provisor Santos, Rafaela Rogerio Floriano de Souza, Vivian Pedigone Cintra, Chong Ae Kim, Gustavo Marquezani Spolador, Michele Groenner Penna, Miguel Mitne-Neto, Maria Carolina Pintao, Rodrigo Fernandes Ramalho, Gil Monteiro Novo Filho, Wagner A.R. Baratela, Christine Hsiaoyun Chung, Caroline Monaco Moreira, Otavio Jose Eulalio Pereira, Aurelio Pimenta Dutra, Alexandre Ricardo dos Santos Fornari, Rafael Alves da Silva, Daniele Paixão, Caroline Olivati, Caio Robledo D'Angioli Costa Quaio, Elisa Napolitano Ferreira, Juliana Emilia Prior Carnavalli
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
Autor:
Sandro J. de Souza, Rafael Canfield Brianese, Jorge Estefano Santana de Souza, Israel Tojal da Silva, Elisa Napolitano Ferreira, Renan Almeida, Rodrigo Duarte Drummond, Dirce Maria Carraro
Publikováno v:
Translational Oncology, Vol 12, Iss 11, Pp 1453-1460 (2019)
Translational Oncology
Repositório Institucional da UFRN
Universidade Federal do Rio Grande do Norte (UFRN)
instacron:UFRN
Translational Oncology
Repositório Institucional da UFRN
Universidade Federal do Rio Grande do Norte (UFRN)
instacron:UFRN
The majority of the hereditary triple-negative breast cancers (TNBCs) are associated with BRCA1 germline mutations. Nevertheless, the understanding of the role of BRCA1 deficiency in the TNBC tumorigenesis is poor. In this sense, we performed whole-e
Autor:
Gil Monteiro Novo Filho, Maria Carolina Pintao, Caroline Monaco Moreira, Otavio Jose Eulalio Pereira, Caroline Olivati, Caio Robledo D'Angioli Costa Quaio, Juliana Emilia Prior Carnavalli, María José Rivadeneira Obando, Patricia Rossi Sacramento-Bobotis, Chong Ae Kim, Aurelio Pimenta Dutra, Rodrigo Fernandes Ramalho, Elisa Napolitano Ferreira, Matheus Carvalho Bürger, Miguel Mitne-Neto, Vivian Pedigone Cintra, Sandro Félix Perazzio, Gustavo Marquezani Spolador, Christine Hsiaoyun Chung, Rafael Alves da Silva, Monize Nakamoto Provisor Santos, Rafaela Rogerio Floriano de Souza, Michele Groenner Penna, Wagner A.R. Baratela, Alexandre Ricardo dos Santos Fornari, Daniele Paixão
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)
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
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600102&lng=en&tlng=en
Publikováno v:
Human Genome Structure, Function and Clinical Considerations ISBN: 9783030731502
Copy number variations (CNVs) are a type of structural variant that leads to changes in DNA dosage through either duplication or deletion of a genomic region. CNVs play an important role in human genetic variation; they impact more bases than single
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72a3da2c2a3487caa269ac2d3a48e87c
https://doi.org/10.1007/978-3-030-73151-9_9
https://doi.org/10.1007/978-3-030-73151-9_9
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