Zobrazeno 1 - 10
of 311
pro vyhledávání: '"Human and Medical Genetics"'
Autor:
Augusto Rojas-Martínez, Alejandro Giraldo-Ríos, Gerardo Jiménez-Arce, Aída Falcón de Vargas, Roberto Giugliani
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 305-309 (2014)
Latin America and the Caribbean region make up one of the largest areas of the world, and this region is characterized by a complex mixture of ethnic groups sharing Iberian languages. The area is comprised of nations and regions with different levels
Externí odkaz:
https://doaj.org/article/688f82697e204074b2fa3e6d85775dff
Autor:
Eliandra da Silveira Lima, Luíse Sgarabotto Pezzin, Ana Carolina Fensterseifer, Leonardo Araújo Pinto
Publikováno v:
Genetics and Molecular Biology, Vol 45, Iss 1 (2021)
Genetics and Molecular Biology, Volume: 45, Issue: 1, Article number: e20200275, Published: 06 DEC 2021
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 45, Issue: 1, Article number: e20200275, Published: 06 DEC 2021
Genetics and Molecular Biology
This is a descriptive cross-sectional study that aims to determine the distribution of the CFTR causing variant in a group of patients at a cystic fibrosis (CF) center in southern Brazil, as well as to describe causing variants that are treatable wit
Publikováno v:
Genetics and Molecular Biology, Volume: 45, Issue: 1, Article number: e20210138, Published: 15 DEC 2021
Genetics and Molecular Biology
Genetics and Molecular Biology v.45 n.1 2022
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 45, Iss 1 (2021)
Genetics and Molecular Biology
Genetics and Molecular Biology v.45 n.1 2022
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 45, Iss 1 (2021)
Our present study aims to investigate the value of LRRN4 in the progression and prognosis of COAD patients. All COAD and adjacent sample data was downloaded from TCGA database. Survival analysis was performed according to Kaplan-Meier method. The rea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::965a97f8679a92fc28c156853d711bb1
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000100102&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000100102&lng=en&tlng=en
Autor:
Janaína Kehl de Castilhos, Paula Dal Bó Campagnolo, Silvana de Almeida, Márcia Regina Vitolo, Vanessa Suñé Mattevi
Publikováno v:
Genetics and Molecular Biology, Vol 44, Iss 4 (2021)
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: e20200330, Published: 03 DEC 2021
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: e20200330, Published: 03 DEC 2021
Epigenetic modifications established during prenatal and early life, including DNA methylation, have been suggested as potential mediators of the interaction between environmental exposures during the perinatal period and adult metabolic health adver
Autor:
Monique Cabral Hahn, Isabel Cristina Ribas Werlang, Ciliana Rechenmacher, Rahuany Velleda de Morais, Florencia María Barbé-Tuana, Lucas Kich Grun, Fátima Theresinha Costa Rodrigues Guma, Clécio Homrich da Silva, Juliana Rombaldi Bernardi, Mariana Bohns Michalowski, Marcelo Zubaran Goldani
Publikováno v:
Genetics and Molecular Biology, Vol 44, Iss 4 (2021)
Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: e20200411, Published: 03 DEC 2021
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: e20200411, Published: 03 DEC 2021
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology
Different intrauterine exposures are associated with different metabolic profiles leading to growth and development characteristics in children and also relate to health and disease patterns in adult life. The objective of this work was to evaluate t
Autor:
Fernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, Franciele Fátima Lopes, Inamara Moraes, Francyne Kubaski, Roberto Giugliani, Maira Burin
Publikováno v:
Genetics and Molecular Biology, Vol 45, Iss 1 (2021)
Genetics and Molecular Biology v.45 n.1 2022
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology v.45 n.1 2022
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes that code f
Publikováno v:
Genetics and Molecular Biology, Vol 44, Iss 4 (2021)
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: e20210058, Published: 22 NOV 2021
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: e20210058, Published: 22 NOV 2021
Oral Squamous Cell Carcinoma (OSCC) is the most common malignant cancer affecting oral cavity. Recent studies have demonstrated that Ubiquitin-specific protease 7 (USP7) was upregulated in several types of cancers. USP7 expression was associated with
Autor:
Ana Lívia Silva Galbiatti-Dias, Carlos Henrique Viesi do Nascimento-Filho, Márcia Maria Urbanin Castanhole-Nunes, Eny Maria Goloni-Bertollo, Glaucia Maria de Mendonça Fernandes, Ana Paula D’Alarme Gimenez-Martins, Érika Cristina Pavarino, José Luis Esteves Francisco, Stéphanie Piacenti dos Santos, Caroline Izak Cuzziol
Publikováno v:
Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: e20200485, Published: 22 OCT 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)
We investigated the association between methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthetase (MTR A2756G), and methionine synthase reductase (MTRR A66G) polymorphisms involved in folate pathway and breast cancer risk, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb920200a5a39763a3630c2f9c2de38c
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600103&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600103&lng=en&tlng=en
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
Autor:
Fernanda Gubert, Isadora M. Vaz, Fernanda Mesquita, Tais Hanae Kasai-Brunswick, Tamara Borgonovo, Paulo Roberto Slud Brofman, Juliana Ferreira Vasques, Alexandra Cristina Senegaglia, Danúbia Silva dos Santos, Carmen Lúcia Kuniyoshi Rebelatto
Publikováno v:
Genetics and Molecular Biology, Volume: 44, Issue: 3, Article number: e20200147, Published: 03 SEP 2021
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 44, Iss 3 (2021)
Genetics and Molecular Biology v.44 n.3 2021
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 44, Iss 3 (2021)
Genetics and Molecular Biology v.44 n.3 2021
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Induced pluripotent stem cells (iPSCs) are generated from adult cells that have been reprogrammed to pluripotency. However, in vitro cultivation and genetic reprogramming increase genetic instability, which could result in chromosomal abnormalities.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0480472a92ad69bbc9602a22dd07158d
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000400103&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000400103&lng=en&tlng=en