A rare case of a primary retroperitoneal mucinous cystic tumour with borderline malignancy and literature review

door Chaves, Mariana M, Castro, Rita, Mota-Vieira, Luisa, Carneiro, Vítor
Gepubliceerd in BMJ Case Rep (2019)

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

door Esteves, Lisa M, Bulhões, Sara M, Brilhante, Maria J, Mota-Vieira, Luisa
Gepubliceerd in 2013

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

door Melo, Bruna C. S., Portocarrero, Ana, Alves, Cláudia, Sampaio, André, Mota-Vieira, Luisa
Gepubliceerd in Clin Med Insights Case Rep (2015)

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

door Branco, Claudia C, Pereirinha, Tânia, Cabral, Rita, Pacheco, Paula R, Mota-Vieira, Luisa
Gepubliceerd in 2009

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

door Pacheco, Paula R, Branco, Claudia C, Gomes, Cidália T, Cabral, Rita, Mota-Vieira, Luisa
Gepubliceerd in 2010

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

door Branco, Claudia C., Pacheco, Paula R., Cabrol, Ester, Cabral, Rita, Vicente, Astrid M., Mota-Vieira, Luisa
Gepubliceerd in 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

door Argyropoulou, Zoe, Liu, Lu, Ozoemena, Linda, Branco, Claudia C., Senra, Raquel, Reis-Rego, Ângela, Mota-Vieira, Luisa
Gepubliceerd in BMC Dermatol (2018)

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

door Verjovski-Almeida Sergio, Mota-Vieira Luisa, Egidio Camila M, Vêncio Ricardo ZN, Peixoto Bernardo R, Reis Eduardo M
Gepubliceerd in 2006-02-01

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

door Peixoto, Bernardo R, Vêncio, Ricardo ZN, Egidio, Camila M, Mota-Vieira, Luisa, Verjovski-Almeida, Sergio, Reis, Eduardo M
Gepubliceerd in 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

door Vaz, Sara O., Pires, Renato, Pires, Luís M., Carreira, Isabel M., Anjos, Rui, Maciel, Paula, Mota-Vieira, Luisa
Gepubliceerd in BMC Pediatr (2015)

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

door Dias Pereira, Bernardo, Nunes da Silva, Tiago, Bernardo, Ana Teresa, César, Rui, Vara Luiz, Henrique, Pacak, Karel, Mota-Vieira, Luísa
Gepubliceerd in Int J Endocrinol (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

door Esteves, Lisa M., Bulhões, Sara M., Branco, Claudia C., Carreira, Teresa, Vieira, Maria L., Gomes-Solecki, Maria, Mota-Vieira, Luisa
Gepubliceerd in Sci Rep (2018)

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

door Rosa, Joana, Gaspar-Silva, Patrícia, Pacheco, Paula, Silva, Conceição, Branco, Cláudia C., Vieira, Barbara S., Carreiro, Alexandra, Gonçalves, Juan, Mota-Vieira, Luisa
Gepubliceerd in BMC Pediatr (2020)

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

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

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

door 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
Gepubliceerd in BMC Genet (2014)

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

door 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
Gepubliceerd in Cancers (Basel) (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)

door 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
Gepubliceerd in PLoS One (2015)

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

door 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
Gepubliceerd in 2009

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

door 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
Gepubliceerd in J Clin Virol (2019)

Clinical and Genetic Spectrum of Bartter Syndrome Type 3

door Seys, Elsa, Andrini, Olga, Keck, Mathilde, Mansour-Hendili, Lamisse, Courand, Pierre-Yves, Simian, Christophe, Deschenes, Georges, Kwon, Theresa, Bertholet-Thomas, Aurélia, Bobrie, Guillaume, Borde, Jean Sébastien, Bourdat-Michel, Guylhène, Decramer, Stéphane, Cailliez, Mathilde, Krug, Pauline, Cozette, Paul, Delbet, Jean Daniel, Dubourg, Laurence, Chaveau, Dominique, Fila, Marc, Jourde-Chiche, Noémie, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Lemoine, Sandrine, Djeddi, Djamal, Llanas, Brigitte, Louillet, Ferielle, Merieau, Elodie, Mileva, Maria, Mota-Vieira, Luisa, Mousson, Christiane, Nobili, François, Novo, Robert, Roussey-Kesler, Gwenaëlle, Vrillon, Isabelle, Walsh, Stephen B., Teulon, Jacques, Blanchard, Anne, Vargas-Poussou, Rosa
Gepubliceerd in J Am Soc Nephrol (2017)