Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Isabel Cristina Bandeira"'
Autor:
Isabel Cristina Bandeira, Lucas Giombelli, Isabel Cristina Werlang, Ana Lucia Abujamra, Thais Leite Secchi, Rosane Brondani, José Augusto Bragatti, Jorge Wladimir Junqueira Bizzi, Sandra Leistner-Segal, Marino Muxfeldt Bianchin
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 15 (2021)
The relationship between epilepsy and psychiatric comorbidities has been recognized for centuries, but its pathophysiological mechanisms are still misunderstood. It is biologically plausible that genetic or epigenetic variations in genes that codify
Externí odkaz:
https://doaj.org/article/0047d4ff22034b38b10c5318e4faff44
Autor:
Márcia Cristine Pires Travassos, Isabel Cristina Bandeira da Silva, João Paulo Bessa de Lima, Celso Martins Fonseca, Jacqueline de Almeida Gonçalves Sachett, Sibila Lilian Osis
Publikováno v:
Rev Rene, Vol 17, Iss 4, Pp 520-528 (2016)
Objective: to evaluate the prognostic factors of volume replacement in patients with trauma due to penetrating injuries. Methods: retrospective cohort study whose data were obtained by analyzing medical records of 544 patients who were admitted to th
Externí odkaz:
https://doaj.org/article/26e9f77843554a4f839af7517d3dc6b2
Autor:
Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Rudinei Luis Correia, Fernanda Veiga de Goes, Raquel Tavares Boy da Silva, Larissa Souza Mario Bueno, Mireille Caroline Silva de Miranda Gomes, Henrique de Campos Reis Galvão, João I C F Neri, Maria Isabel Achatz, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla
Publikováno v:
PLoS ONE, Vol 12, Iss 10, p e0185713 (2017)
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and TSC2, foll
Externí odkaz:
https://doaj.org/article/1664d8144a7346c39bd9e139dfa76002
Autor:
Bruna Oliveira, Letícia da Cunha Veber, Têmis Maria Félix, Mariluce Riegel, Isabel Cristina Bandeira da Silva, Carla Streit, Sandra Leistner-Segal
Publikováno v:
Clinical and Biomedical Research, Vol 36, Iss 2 (2016)
Introdução: Prader-Willi (SPW) e Angelman (SA) são síndromes clinicamente distintas, causadas pela perda de expressão de genes na região cromossômica 15q11.2-q13, de origem paterna ou materna, respectivamente. Ambas compartilham os mesmos mét
Externí odkaz:
https://doaj.org/article/01d3bd1e853b4783a228187ede887561
Autor:
Crisle Vignol Dillenburg, Isabel Cristina Bandeira, Taiana Valente Tubino, Luciana Grazziotin Rossato, Eleonora Souza Dias, Ana Cristina Bittelbrunn, Sandra Leistner-Segal
Publikováno v:
Genetics and Molecular Biology, Vol 35, Iss 3, Pp 599-602 (2012)
Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a "bottleneck', which occurred in the past an
Externí odkaz:
https://doaj.org/article/6308bf79889742dabc4fd26b71353b28
Autor:
Alexandre Andre Balieiro Anastacio da Costa, Gabriel de Souza Macedo, Cintia Regina Niederauer Ramos, Tiago Finger Andreis, Henrique de Campos Reis Galvão, Edenir Inêz Palmero, Isabel Cristina Bandeira, Maria Isabel Achatz, Patricia Ashton-Prolla, Larissa Brussa Reis, Fernanda Sales Luiz Vianna, Igor Araújo Vieira, Patricia Santos-Silva, Karina Miranda Santiago
Publikováno v:
Cancer Genetics. 240:54-58
Li-Fraumeni and Li-Fraumeni-like (LFS/LFL) Syndrome are cancer predisposition syndromes caused by germline pathogenic variants in TP53 and are associated with an increased risk of multiple early-onset cancers. In Southern and Southeastern Brazil, a g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab4d47f908b9d01c4e1e7b22908076ad
https://doi.org/10.1016/j.cancergen.2019.11.005
https://doi.org/10.1016/j.cancergen.2019.11.005
Autor:
Maievi Fonini, Patricia Ashton-Prolla, Filippo Vairo, Cristina Brinckmann Oliveira Netto, Clévia Rosset, Isabel Cristina Bandeira
Publikováno v:
Expert review of molecular diagnostics. 18(6)
Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor predisposition syndromes mostly caused by loss-of-function mutations in the tumor suppressor genes NF1 and NF2, respectively. Genotyping is important for correct diagnosis of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8728b8d0ce12334c76e38973a6081cec
https://pubmed.ncbi.nlm.nih.gov/29685074
https://pubmed.ncbi.nlm.nih.gov/29685074
Autor:
Mariluce Riegel, Carla Streit, Isabel Cristina Bandeira da Silva, Bruna Serrão de Oliveira, Letícia da Cunha Veber, Sandra Leistner-Segal, Têmis Maria Félix
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Clinical and Biomedical Research, Vol 36, Iss 2 (2016)
Clinical & Biomedical Research; Vol. 36 No. 2 (2016)
Clinical and Biomedical Research; v. 36 n. 2 (2016)
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Clinical and Biomedical Research, Vol 36, Iss 2 (2016)
Clinical & Biomedical Research; Vol. 36 No. 2 (2016)
Clinical and Biomedical Research; v. 36 n. 2 (2016)
Clinical and Biomedical Research
Introdução: Prader-Willi (SPW) e Angelman (SA) são síndromes clinicamente distintas, causadas pela perda de expressão de genes na região cromossômica 15q11.2-q13, de origem paterna ou materna, respectivamente. Ambas compartilham os mesmos mét
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2cec009f5e597c2c9fb89d508584bfb
Publikováno v:
Biblioteca Digital de Teses e Dissertações da UFRGSUniversidade Federal do Rio Grande do SulUFRGS.
Introdução: A epilepsia é uma doença caracterizada principalmente pela recorrência espontânea de crises não provocadas que podem ser desencadeadas por vários fatores. A relação entre epilepsia e comorbidades psiquiátricas é reconhecida h
Externí odkaz:
http://hdl.handle.net/10183/131216
Autor:
João I.C.F. Neri, Isabel Cristina Bandeira, Maria Isabel Achatz, Patricia Ashton-Prolla, Raquel Silva, Filippo Vairo, Cristina Brinckmann Oliveira Netto, Fernanda Veiga De Goes, Mireille Caroline Silva De Miranda Gomes, Clévia Rosset, Rudinei Luis Correia, Henrique de Campos Reis Galvão, Larissa Souza Mario Bueno
Publikováno v:
PLoS ONE, Vol 12, Iss 10, p e0185713 (2017)
PLoS ONE
PLoS ONE
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and TSC2, foll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d169df87717241b614a692d5fd268b41
https://doi.org/10.1371/journal.pone.0185713
https://doi.org/10.1371/journal.pone.0185713