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| Mariath,Luiza Monteavaro; Silva,Alexandre Mauat da; Kowalski,Thayne Woycinck; Gattino,Gustavo Schulz; Araujo,Gustavo Andrade de; Figueiredo,Felipe Grahl; Tagliani-Ribeiro,Alice; Roman,Tatiana; Vianna,Fernanda Sales Luiz; Schuler-Faccini,Lavínia; Schuch,Jaqueline Bohrer. |
| Abstract Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully understood. Our hypothesis in the current study is that genes associated with different behaviors could also influence the musical phenotype. Our aim was to investigate whether polymorphisms in six genes (AVPR1A, SLC6A4, ITGB3, COMT, DRD2 and DRD4) related to social and cognitive traits are associated with musicality in a sample of children.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Musicality; Music; Vasopressin; AVPR1A. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300421 |
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| Schuler-Faccini,Lavínia; Osorio,Claudio Maria; Romariz,Flavia; Paneque,Milena; Sequeiros,Jorge; Jardim,Laura Bannach. |
| Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre) and Portugal (Porto). We provide a case report that illustrates the significant ethical and psychological issues... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: SCA3; Machado-Joseph; Presymptomatic test; Ataxia; Genetic testing; Psychosocial; Psychological issues. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200012 |
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| Giugliani,Roberto; Bender,Fernanda; Couto,Rowena; Bochernitsan,Aline; Brusius-Facchin,Ana Carolina; Burin,Maira; Amorim,Tatiana; Acosta,Angelina Xavier; Purificação,Antônio; Leistner-Segal,Sandra; Saraiva-Pereira,Maria Luiza; Jardim,Laura Bannach; Matte,Ursula; Riegel,Mariluce; Cardoso-dos-Santos,Augusto César; Rodrigues,Graziella; Oliveira,Marcelo Zagonel de; Tagliani-Ribeiro,Alice; Heck,Selia; Dresch,Vanusa; Schuler-Faccini,Lavínia; Kubaski,Francyne. |
| Abstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as “population medical genetics”, which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Population Medical Genetics; Genetic clusters; Founder effect; Population isolates. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200312 |
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