Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes

por Esteves, Lisa M, Bulhões, Sara M, Brilhante, Maria J, Mota-Vieira, Luisa
Publicado 2013

Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age

por Melo, Bruna C. S., Portocarrero, Ana, Alves, Cláudia, Sampaio, André, Mota-Vieira, Luisa
Publicado 2015

Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores)

por Branco, Claudia C, Pereirinha, Tânia, Cabral, Rita, Pacheco, Paula R, Mota-Vieira, Luisa
Publicado 2009

HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium

por Pacheco, Paula R, Branco, Claudia C, Gomes, Cidália T, Cabral, Rita, Mota-Vieira, Luisa
Publicado 2010

Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese

por Branco, Claudia C., Pacheco, Paula R., Cabrol, Ester, Cabral, Rita, Vicente, Astrid M., Mota-Vieira, Luisa
Publicado 2009

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

por Argyropoulou, Zoe, Liu, Lu, Ozoemena, Linda, Branco, Claudia C., Senra, Raquel, Reis-Rego, Ângela, Mota-Vieira, Luisa
Publicado 2018

Evaluation of reference-based two-color methods for measurement of gene expression ratios using spotted cDNA microarrays

por Peixoto, Bernardo R, Vêncio, Ricardo ZN, Egidio, Camila M, Mota-Vieira, Luisa, Verjovski-Almeida, Sergio, Reis, Eduardo M
Publicado 2006

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases

por Vaz, Sara O., Pires, Renato, Pires, Luís M., Carreira, Isabel M., Anjos, Rui, Maciel, Paula, Mota-Vieira, Luisa
Publicado 2015

A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

por Dias Pereira, Bernardo, Nunes da Silva, Tiago, Bernardo, Ana Teresa, César, Rui, Vara Luiz, Henrique, Pacak, Karel, Mota-Vieira, Luísa
Publicado 2018

Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease

por Esteves, Lisa M., Bulhões, Sara M., Branco, Claudia C., Carreira, Teresa, Vieira, Maria L., Gomes-Solecki, Maria, Mota-Vieira, Luisa
Publicado 2018

A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)

por Rosa, Joana, Gaspar-Silva, Patrícia, Pacheco, Paula, Silva, Conceição, Branco, Cláudia C., Vieira, Barbara S., Carreiro, Alexandra, Gonçalves, Juan, Mota-Vieira, Luisa
Publicado 2020

Human Leptospirosis: Seroreactivity and Genetic Susceptibility in the Population of São Miguel Island (Azores, Portugal)

por Esteves, Lisa M., Bulhões, Sara M., Branco, Claudia C., Mota, Francisco M., Paiva, Clara, Cabral, Rita, Vieira, Maria Luisa, Mota-Vieira, Luisa
Publicado 2014

Enzyme immunoassays (EIA) for serodiagnosis of human leptospirosis: specific IgG3/IgG1 isotyping may further inform diagnosis of acute disease

por Fortes-Gabriel, Elsa, Guedes, Mariana Soares, Shetty, Advait, Gomes, Charles Klazer, Carreira, Teresa, Vieira, Maria Luísa, Esteves, Lisa, Mota-Vieira, Luísa, Gomes-Solecki, Maria
Publicado 2022

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication

por Pires, Renato, Pires, Luís M, Vaz, Sara O, Maciel, Paula, Anjos, Rui, Moniz, Raquel, Branco, Claudia C, Cabral, Rita, Carreira, Isabel M, Mota-Vieira, Luisa
Publicado 2014

DNA Methylation Is Correlated with Oxidative Stress in Myelodysplastic Syndrome—Relevance as Complementary Prognostic Biomarkers

por 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
Publicado 2021

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)

por 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
Publicado 2015

Low frequency of CD4(+)CD25(+ )Treg in SLE patients: a heritable trait associated with CTLA4 and TGFβ gene variants

por Barreto, Marta, Ferreira, Ricardo C, Lourenço, Lara, Moraes-Fontes, Maria F, Santos, Eugénia, Alves, Miguel, Carvalho, Cláudia, Martins, Berta, Andreia, Rita, Viana, João F, Vasconcelos, Carlos, Mota-Vieira, Luísa, Ferreira, Carlos, Demengeot, Jocelyne, Vicente, Astrid M
Publicado 2009

Epidemiology and genetic variability of respiratory syncytial virus in Portugal, 2014–2018

por Sáez-López, Emma, Cristóvão, Paula, Costa, Inês, Pechirra, Pedro, Conde, Patrícia, Guiomar, Raquel, Peres, Maria João, Viseu, Regina, Lopes, Paulo, Soares, Vânia, Vale, Fátima, Fonseca, Patricia, Freitas, Ludivina, Alves, Jose, Pessanha, Maria Ana, Toscano, Cristina, Mota-Vieira, Luísa, Veloso, Rita Cabral, Côrte-Real, Rita, Branquinho, Paula, Pereira‑Vaz, João, Rodrigues, Fernando, Cunha, Mário, Martins, Luís, Mota, Paula, Couto, Ana Rita, Bruges-Armas, Jácome, Almeida, Sofia, Rodrigues, Débora
Publicado 2019