Search Results - "Mota‐Vieira, Luisa"

DNA Methylation Is Correlated with Oxidative Stress in Myelodysplastic Syndrome—Relevance as Complementary Prognostic Biomarkers by Gonçalves, Ana Cristina, Alves, Raquel, Baldeiras, Inês, Marques, Bárbara, Oliveiros, Bárbara, Pereira, Amélia, Nascimento Costa, José Manuel, Cortesão, Emília, Mota Vieira, Luisa, Sarmento Ribeiro, Ana Bela

“…Oxidative stress and abnormal DNA methylation have been implicated in cancer, including myelodysplastic syndromes (MDSs). This fact leads us to investigate…”
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Prenatal sonographic diagnosis of isolated fetal ascites in cri‐du‐chat (5p‐) syndrome: A case report by Cardoso, Mariana C., Raposo, Maria Inês, Ormonde, Mariana, Monteiro, Rita, Sampaio, André, Cosme, Pedro, Mota‐Vieira, Luisa

“…Isolated fetal ascites and cri‐du‐chat syndrome (CdCS; OMIM #123450) are two very rare conditions that, to our best knowledge, have never been reported…”
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Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis by Gonçalves, Ana Cristina, Alves, Raquel, Baldeiras, Inês, Cortesão, Emília, Carda, José Pedro, Branco, Claudia C., Oliveiros, Bárbara, Loureiro, Luísa, Pereira, Amélia, Nascimento Costa, José Manuel, Sarmento‐Ribeiro, Ana Bela, Mota‐Vieira, Luisa

“…Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) share common features: elevated oxidative stress, DNA repair deficiency, and aberrant DNA…”
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Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease by Esteves, Lisa M., Bulhões, Sara M., Branco, Claudia C., Carreira, Teresa, Vieira, Maria L., Gomes-Solecki, Maria, Mota-Vieira, Luisa

“…Currently, direct detection of Leptospira can be done in clinical laboratories by conventional and by real-time PCR (qRT-PCR). We tested a biobank of paired…”
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Human leptospirosis: seroreactivity and genetic susceptibility in the population of São Miguel Island (Azores, Portugal) by Esteves, Lisa M, Bulhões, Sara M, Branco, Claudia C, Mota, Francisco M, Paiva, Clara, Cabral, Rita, Vieira, Maria Luisa, Mota-Vieira, Luisa

“…Leptospirosis is a worldwide zoonotic and recognized neglected infectious disease. It has been observed that only a proportion of individuals exposed to…”
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Seroprevalence of Protective Antibodies Against Influenza and the Reduction of the Influenza Incidence Rate: An Annual Repeated Cross‐Sectional Study From 2014 to 2019 by Guiomar, Raquel, Pereira da Silva, Susana, Costa, Inês, Conde, Patricia, Cristóvão, Paula, Rodrigues, Ana Paula, Fernandes, Aida, Dias, Ana Paula, Couto, Ana Rita, Ramos, Angélica, Moita, Carina, Rodrigues, Carina, Vale, Fátima, Caldeira, Filomena, Bruges Armas, Jácome, Pereira‐Vaz, João, Alves, José, Freitas, Ludivina, Martins, Luis, Milho, Luís, Mota‐Vieira, Luisa, Lopes, Lurdes, Freitas, Margarida, Pessanha, Maria Ana, Correia, Maria, Marques, Maria Helena, Cardoso, Maria João, Peres, Maria João, Cunha, Mário, Amantegui, Patricia, Mota, Paula, Lopes, Paulo, Pereira, Paulo, Viseu, Regina, Cabral, Rita, Côrte‐Real, Rita, Almeida, Sofia, Soares, Vânia, Mansinho, Kamal, Hungnes, Olav, Nunes, Baltazar

“…ABSTRACT Background Seroepidemiological studies provide estimates of population‐level immunity, prevalence/incidence of infections, and evaluation of…”
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Enzyme immunoassays (EIA) for serodiagnosis of human leptospirosis: specific IgG3/IgG1 isotyping may further inform diagnosis of acute disease by Fortes-Gabriel, Elsa, Guedes, Mariana Soares, Shetty, Advait, Gomes, Charles Klazer, Carreira, Teresa, Vieira, Maria Luísa, Esteves, Lisa, Mota-Vieira, Luísa, Gomes-Solecki, Maria

“…The laborious microscopic agglutination test (MAT) is the gold standard serologic test for laboratory diagnosis of leptospirosis. We developed EIA based…”
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A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal) by Rosa, Joana, Gaspar-Silva, Patrícia, Pacheco, Paula, Silva, Conceição, Branco, Cláudia C, Vieira, Barbara S, Carreiro, Alexandra, Gonçalves, Juan, Mota-Vieira, Luisa

“…Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a…”
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Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions by Oliveira, Guiomar, Ataíde, Assunção, Marques, Carla, Miguel, Teresa S, Coutinho, Ana Margarida, Mota‐Vieira, Luísa, Gonçalves, Esmeralda, Lopes, Nazaré Mendes, Rodrigues, Vitor, Carmona da Mota, Henrique, Vicente, Astrid Moura

“…The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical…”
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Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal) by Branco, Claudia C, Gomes, Cidália T, De Fez, Laura, Bulhões, Sara, Brilhante, Maria José, Pereirinha, Tânia, Cabral, Rita, Rego, Ana Catarina, Fraga, Cristina, Miguel, António G, Brasil, Gracinda, Macedo, Paula, Mota-Vieira, Luisa

“…Iron overload is associated with acquired and genetic conditions, the most common being hereditary hemochromatosis (HH) type-I, caused by HFE mutations. Here,…”
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A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About? by Mota-Vieira, Luísa, Vara Luiz, Henrique, César, Rui, Bernardo, Ana Teresa, Nunes da Silva, Tiago, Dias Pereira, Bernardo, Pacak, Karel

“…Pheochromocytoma is very rare at a pediatric age, and when it is present, the probability of a causative genetic mutation is high. Due to high costs of genetic…”
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MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients by Coutinho, Ana M., Oliveira, Guiomar, Katz, Cécile, Feng, Jinong, Yan, Jin, Yang, Chunmei, Marques, Carla, Ataíde, Assunção, Miguel, Teresa S., Borges, Luís, Almeida, Joana, Correia, Catarina, Currais, António, Bento, Celeste, Mota-Vieira, Luísa, Temudo, Teresa, Santos, Mónica, Maciel, Patrícia, Sommer, Steve S., Vicente, Astrid M.

“…Mutations in the coding sequence of the methyl‐CpG‐binding protein 2 gene (MECP2), which cause Rett syndrome (RTT), have been found in male and female autistic…”
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Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age by Melo, Bruna C. S., Portocarrero, Ana, Alves, Cláudia, Sampaio, André, Mota-Vieira, Luisa

“…The detection of supernumerary marker chromosomes (SMCs) in prenatal diagnosis is always a challenge. In this study, we report a paternally inherited case of a…”
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Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy by Chabrol, Elodie, Gourfinkel-An, Isabelle, Scheffer, Ingrid E, Picard, Fabienne, Couarch, Philippe, Berkovic, Samuel F, McMahon, Jacinta M, Bajaj, Nandita, Mota-Vieira, Luisa, Mota, Rui, Trouillard, Oriane, Depienne, Christel, Baulac, Michel, LeGuern, Eric, Baulac, Stéphanie

“…Summary Mutations in the LGI1 (leucine-rich, glioma inactivated 1) gene are found in less than a half of the families with autosomal dominant lateral temporal…”
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Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci by Branco, Claudia C., Pacheco, Paula R., Cabral, Rita, Vicente, Astrid M., Mota-Vieira, Luisa

“…To study the genetic diversity of São Miguel's population we compared 21 microsatellite loci in 204 individuals from São Miguel island and 103 individuals from…”
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Evaluation of linkage disequilibrium on the Xq13.3 region: Comparison between the Azores islands and mainland Portugal by Branco, Claudia C., Cabrol, Ester, Bento, Marta São, Gomes, Cidália T., Cabral, Rita, Vicente, Astrid M., Pacheco, Paula R., Mota-Vieira, Luisa

“…The design of genetic studies of complex diseases is dependent on the extent and distribution of linkage disequilibrium (LD) across the genome in different…”
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HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium by Pacheco, Paula R, Branco, Claudia C, Gomes, Cidália T, Cabral, Rita, Mota-Vieira, Luisa

“…Human leukocyte antigen (HLA) genes are characterized by high levels of polymorphism and linkage disequilibrium (LD), important characteristics to study the…”
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Evaluation of reference-based two-color methods for measurement of gene expression ratios using spotted cDNA microarrays by Peixoto, Bernardo R, Vêncio, Ricardo Z N, Egidio, Camila M, Mota-Vieira, Luisa, Verjovski-Almeida, Sergio, Reis, Eduardo M

“…Spotted cDNA microarrays generally employ co-hybridization of fluorescently-labeled RNA targets to produce gene expression ratios for subsequent analysis…”
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Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores) by Branco, Claudia C, Pereirinha, Tânia, Cabral, Rita, Pacheco, Paula R, Mota-Vieira, Luisa

“…The Azorean population presents the highest standardized mortality rate for cardiovascular diseases (CVD) when compared to mainland Portugal and other…”
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A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract by Carvalho, Ana, Hermanns, Pia, Rodrigues, Ana-Luísa, Sousa, Isabel, Anselmo, João, Bikker, Hennie, Cabral, Rita, Pereira-Duarte, Carlos, Mota-Vieira, Luísa, Pohlenz, Joachim

“…Although thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH), its molecular basis remains largely elusive. Indeed, in only a minority…”
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