Now showing items 1-20 of 81

    • Admixture in Latin America : geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals 

      Ruiz-Linares, Andres; Adhikari, Kaustubh; Acunã Alonzo, Víctor; Quinto Sanchez, Mirsha; Jaramillo, Claudia; Arias, William; Fuentes, Macarena; Pizarro, María; Everardo, Paola; Avila, Francisco de; Gómez Valdés, Jorge A.; León Mimila, Paola; Hunemeier, Tábita; Ramallo, Virgínia; Cerqueira, Caio Cesar Silva de; Burley, Mari-Wyn; Konca, Esra; Oliveira, Marcelo Zagonel de; Veronez, Maurício Roberto; Rubio Codina, Marta; Attanasio, Orazio; Gibbon, Sahra; Ray, Nicolas; Gallo, Carla; Poletti, Giovanni; Rosique, Javier; Faccini, Lavinia Schuler; Salzano, Francisco Mauro; Bortolini, Maria Cátira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; Balding, David; González-José, Rolando (2014) [Journal article]
    • Anomalias congênitas na perspectiva da vigilância em saúde : compilação de uma lista com base na CID-10 

      Bremm, Joao Matheus; Santos, Augusto César Cardoso dos; Magalhães, Vivyanne Santiago; Souza, Ana Cláudia Medeiros de; Alves, Ronaldo Fernandes Santos; Araújo, Valdelaine Etelvina Miranda de; Macário, Eduardo Marques; Oliveira, Wanderson Kleber de; Faccini, Lavinia Schuler; Sanseverino, Maria Teresa Vieira; França, Giovanny Vinícius Araújo de (2020) [Journal article]
      Objetivo: Propor uma lista de anomalias congênitas com códigos correspondentes na Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde – 10ª Revisão (CID-10), visando a aplicação no âmbito ...
    • Aprosopia/holoprosencephaly in a stillborn puppy: when the face predicts the brain 

      Pereira, Clairton Marcolongo; Silva, Tayná; Roque, Laiz Zaché; Barros, Bárbara de; Moscon, Luiz Alexandre; Schild, Ana Lucia; Barros, Cláudio Severo Lombardo; Faccini, Leonardo Schuler; Faccini, Lavinia Schuler (2021) [Journal article]
      In a litter of three puppies, one was stillborn and had facial and brain defects. Fusion of the maxilla and mandible and absence of the face were observed. The forebrain (telencephalon and the diencephalon) was reduced in ...
    • Assessment of fetal risk associated with exposure to cancer chemotherapy during pregnancy : a multicenter study 

      Peres, Rossana Mizunski; Sanseverino, Maria Teresa Vieira; Guimarães, José Luiz Miranda; Coser, Virgínia Maria; Giuliani, Liane de Rosso; Moreira, Roger Klein; Ornsten, Thor Gunnar Hugo; Faccini, Lavinia Schuler (2001) [Journal article]
      The objective of the present study was to evaluate and quantify fetal risks involved in the administration of cancer chemotherapy during gestation, as well as to assess the long-term effects on the exposed children. In ...
    • Association between Genetic Variants in NOS2 and TNF Genes with Congenital Zika Syndrome and Severe Microcephaly 

      Gomes, Julia do Amaral; Boquett, Juliano André; Silva, Juliana Herrero da; Galera, Marcial Francis; Andrade, Maria Denise Fernandes Carvalho de; Carvalho, Isabella Fernandes; Vianna, Fernanda Sales Luiz; Sgarioni, Eduarda; Trettel, Ana Cláudia Pereira Terças; Ribeiro, Bethânia de Freitas Rodrigues; Oliveira, Thalita Mara de; Faccini, Lavinia Schuler (2021) [Journal article]
      Zika virus (ZIKV) causes Congenital Zika Syndrome (CZS) in individuals exposed prenatally. Here, we investigated polymorphisms in VEGFA, PTGS2, NOS3, TNF, and NOS2 genes as risk factors to CZS. Forty children with CZS and ...
    • Avaliação de teratógenos potenciais na população brasileira : a experiência do Sistema Nacional de Informação sobre Agentes Teratogênicos (SIAT) 

      Faccini, Lavinia Schuler; Sanseverino, Maria Teresa Vieira; Peres, Rossana Mizunski (2001) [Journal article]
      O Sistema Nacional de Informações sobre Agentes Teratogênicos (SIAT) foi implantado em Porto Alegre, Rio Grande do Sul, em 1990, com a proposta de fornecer a médicos e à população em geral informações rápidas e atualizadas ...
    • Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer 

      Palmero, Edenir Inêz; Campacci, Natalia; Faccini, Lavinia Schuler; Giugliani, Roberto; Rocha, José Cláudio Casali da; Vargas, Fernando Regla; Prolla, Patrícia Ashton (2020) [Journal article]
      In Brazil, the population in general has little knowledge about genetic risks, as well as regarding the role and importance of the Cancer Genetic Counseling (CGC). The goal of this study was to evaluate cancer-related worry ...
    • Classification algorithm for congenital Zika Syndrome: characterizations, diagnosis and validation 

      Veiga, Rafael Valente; Faccini, Lavinia Schuler; França, Giovanny Vinícius Araújo de; Andrade, Roberto Fernandes Silva; Teixeira, Maria Gloria; Costa, Larissa Catharina; Paixão, Enny Santos da; Costa, Maria da Conceição Nascimento; Barreto, Mauricio Lima; Oliveira, Juliane Fonseca de; Oliveira, Wanderson Kleber de; Cardim, Luciana Lobato; Rodrigues, Moreno Magalhães de Souza (2021) [Journal article]
      Zika virus was responsible for the microcephaly epidemic in Brazil which began in October 2015 and brought great challenges to the scientific community and health professionals in terms of diagnosis and classification. Due ...
    • Clinical and molecular characterization of a brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations 

      Mattos, Eduardo Preusser de; Sanseverino, Maria Teresa Vieira; Magalhães, Jose Antonio de Azevedo; Leite, Júlio César Loguercio; Felix, Temis Maria; Todeschini, Luis Alberto; Cavalcanti, Denise P.; Faccini, Lavinia Schuler (2015) [Journal article]
      Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate ...
    • Clinical genetics and public policies : how should rare diseases be managed? 

      Schwartz, Ida Vanessa Doederlein; Souza, Monica Vinhas de; Leivas, Paulo Gilberto Cogo; Faccini, Lavinia Schuler (2014) [Journal article]
      The implementation of a specific policy for rare diseases in the Brazilian Unified Health System presents challenges in terms of its rationale. Recognizing the importance of rarity in the context of public health means ...
    • Comparative genomics identifies putative interspecies mechanisms underlying crbn-sall4-linked thalidomide embryopathy 

      Kowalski, Thayne Woycinck; Garcia, Gabriela Barreto Caldas; Gomes, Julia do Amaral; Fraga, Lucas Rosa; Faccini, Lavinia Schuler; Recamonde-Mendoza, Mariana; Paixão Côrtes, Vanessa Rodrigues; Vianna, Fernanda Sales Luiz (2021) [Journal article]
      The identification of thalidomide–Cereblon-induced SALL4 degradation has brought new understanding for thalidomide embryopathy (TE) differences across species. Some questions, however, regarding species variability, still ...
    • COVID-19 during pregnancy and adverse outcomes : concerns and recommendations from The Brazilian Teratology Information Service 

      Vianna, Fernanda Sales Luiz; Fraga, Lucas Rosa; Abeche, Alberto Mantovani; Silva, André Anjos da; Sanseverino, Maria Teresa Vieira; Faccini, Lavinia Schuler (2021) [Journal article]
      SARS-CoV-2 virus was first identified in the beginning of 2020 and has spread all over the world, causing the Coronavirus Disease 2019 (COVID-19) pandemic. The virus is a member of the Coronavirus family, which includes ...
    • CRL4-Cereblon complex in Thalidomide Embryopathy : a translational investigation 

      Kowalski, Thayne Woycinck; Gomes, Julia do Amaral; Garcia, Gabriela Barreto Caldas; Fraga, Lucas Rosa; Paixão Côrtes, Vanessa Rodrigues; Recamonde-Mendoza, Mariana; Sanseverino, Maria Teresa Vieira; Faccini, Lavinia Schuler; Vianna, Fernanda Sales Luiz (2020) [Journal article]
      The Cereblon-CRL4 complex has been studied predominantly with regards to thalidomide treatment of multiple myeloma. Nevertheless, the role of Cereblon-CRL4 in Thalidomide Embryopathy (TE) is still not understood. Not all ...
    • Decifrando o “mistério dos gêmeos” : Vinte anos de pesquisa em Cândido Godói, Rio Grande do Sul 

      Matte, Ursula da Silveira; Santos, Augusto César Cardoso dos; Rodrigues, Graziella; Oliveira, Marcelo Zagonel de; Ribeiro, Alice Tagliani; Heck, Selia Maria; Dresch, Vanusa; Schossler, Merci; Faccini, Lavinia Schuler (2019) [Journal article]
      Cândido Godói (CG) é um pequeno município brasileiro localizado no noroeste do Rio Grande do Sul e é conhecido como “Cidade dos Gêmeos” devido à alta taxa de nascimentos gemelares na região. Diante de um fato tão notável, ...
    • Defeitos congênitos em uma região de mineração de carvão 

      Leite, Júlio César Loguercio; Faccini, Lavinia Schuler (2001) [Journal article]
      Objetivo Avaliar a relação entre o impacto ambiental decorrente da extração de carvão e sua repercussão na saúde reprodutiva de uma população, residente em pequenas cidades do Sul do Brasil, pela observação da freqüência ...
    • Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care 

      Prolla, Patrícia Ashton; Giacomazzi, Juliana; Schmidt, Aishameriane Venes; Roth, Fernanda Lenara; Palmero, Edenir Inêz; Kalakun, Luciane; Aguiar, Ernestina Silva de; Moreira, Susana Mayer; Batassini, Érica; Belo-Reyes, Vanessa; Faccini, Lavinia Schuler; Giugliani, Roberto; Caleffi, Maira; Camey, Suzi Alves (2009) [Journal article]
      Background: Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed ...
    • A DNA repair variant in POLQ (c.-1060A > G) is associated to hereditary breast cancer patients : a case-control study 

      Brandalize, Ana Paula Carneiro; Faccini, Lavinia Schuler; Hoffmann, Jean Sébastien; Caleffi, Maira; Cazaux, Christophe; Prolla, Patrícia Ashton (2014) [Journal article]
      Background: One of the hallmarks of cancer is the occurrence of high levels of chromosomal rearrangements as a result of inaccurate repair of double-strand breaks (DSB). Germline mutations in BRCA and RAD51 genes, involved ...
    • Epidemiological profile of 39 cases of microcephaly caused by congenital infections diagnosed in the state of Rio Grande do Sul between 2015-2017 

      Herber, Silvani; Terra, Anna Pires; Silva, André Anjos da; Sanseverino, Maria Teresa Vieira; Fraga, Lucas Rosa; Vianna, Fernanda Sales Luiz; Schwartz, Ida Vanessa Doederlein; Faccini, Lavinia Schuler; Friedrich, Luciana (2019) [Journal article]
      Introduction: Microcephaly is a clinical finding that can arise from congenital anomalies or emerge after childbirth. Maternal infections acquired during pregnancy can result in characteristic brain damage in the newborn ...
    • Epidemiological surveillance of birth defects compatible with thalidomide embryopathy in Brazil 

      Vianna, Fernanda Sales Luiz; Lopez-Camelo, Jorge S.; Leite, Júlio César Loguercio; Sanseverino, Maria Teresa Vieira; Dutra, Maria da Graca; Castilla, Eduardo Enrique; Faccini, Lavinia Schuler (2011) [Journal article]
      The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD), among other malformations. In Brazil, there are still babies born with thalidomide embryopathy ...
    • Epidemiological surveillance of birth defects compatible with thalidomide embryopathy in Brazil 

      Vianna, Fernanda Sales Luiz; Lopez-Camelo, Jorge S.; Leite, Júlio César Loguercio; Sanseverino, Maria Teresa Vieira; Dutra, Maria da Graca; Castilla, Eduardo Enrique; Faccini, Lavinia Schuler (2011) [Journal article]
      The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD), among other malformations. In Brazil, there are still babies born with thalidomide embryopathy ...