Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young
Sousa, Madalena, Rego, Teresa, Armas, Jácome Bruges
Published in International journal of molecular sciences (01.11.2022)
Published in International journal of molecular sciences (01.11.2022)
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Novel candidate blood-based transcriptional biomarkers of machado-joseph disease
Raposo, Mafalda, Bettencourt, Conceição, Maciel, Patrícia, Gao, Fuying, Ramos, Amanda, Kazachkova, Nadiya, Vasconcelos, João, Kay, Teresa, Rodrigues, Ana João, Bettencourt, Bruno, Bruges-Armas, Jácome, Geschwind, Daniel, Coppola, Giovanni, Lima, Manuela
Published in Movement disorders (01.06.2015)
Published in Movement disorders (01.06.2015)
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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
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
Published in Influenza and other respiratory viruses (01.05.2024)
Published in Influenza and other respiratory viruses (01.05.2024)
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Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies
Couto, Ana Rita, Parreira, Bruna, Thomson, Russell, Soares, Marta, Power, Deborah M, Stankovich, Jim, Armas, Jácome Bruges, Brown, Matthew A
Published in Human genome variation (01.01.2017)
Published in Human genome variation (01.01.2017)
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HLA Class‐I Diversity in Cameroon: Evidence for a North‐South Structure of Genetic Variation and Relationships with African Populations
Spínola, Hélder, Couto, Ana Rita, Peixoto, Maria José, Anagnostou, Paolo, Destro‐Bisol, Giovanni, Spedini, Gabriella, Lopéz‐Larrea, Carlos, Bruges‐Armas, Jácome
Published in Annals of human genetics (01.11.2011)
Published in Annals of human genetics (01.11.2011)
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Evaluation of two methods for computational HLA haplotypes inference using a real dataset
Bettencourt, Bruno F, Santos, Margarida R, Fialho, Raquel N, Couto, Ana R, Peixoto, Maria J, Pinheiro, João P, Spínola, Hélder, Mora, Marian G, Santos, Cristina, Brehm, António, Bruges-Armas, Jácome
Published in BMC bioinformatics (29.01.2008)
Published in BMC bioinformatics (29.01.2008)
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Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing
Raposo, Mafalda, Bettencourt, Conceição, Melo, Ana Rosa Vieira, Ferreira, Ana F., Alonso, Isabel, Silva, Paulo, Vasconcelos, João, Kay, Teresa, Saraiva-Pereira, Maria Luiza, Costa, Marta D., Vilasboas-Campos, Daniela, Bettencourt, Bruno Filipe, Bruges-Armas, Jácome, Houlden, Henry, Heutink, Peter, Jardim, Laura Bannach, Sequeiros, Jorge, Maciel, Patrícia, Lima, Manuela
Published in Neurobiology of disease (01.01.2022)
Published in Neurobiology of disease (01.01.2022)
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Journal Article
Diffuse idiopathic skeletal hyperostosis (DISH): where we are now and where to go next
Mader, Reuven, Verlaan, Jorrit-Jan, Eshed, Iris, Jacome, Bruges-Armas, Puttini, Piercarlo Sarzi, Atzeni, Fabiola, Buskila, Dan, Reinshtein, Eyal, Novofastovski, Irina, Fawaz, Abdallah, Kurt, de Vlam, Baraliakos, Xenofon
Published in Rheumatic & musculoskeletal diseases open (01.01.2017)
Published in Rheumatic & musculoskeletal diseases open (01.01.2017)
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Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review
Couto, Ana Rita, Parreira, Bruna, Power, Deborah M, Pinheiro, Luís, Madruga Dias, João, Novofastovski, Irina, Eshed, Iris, Sarzi-Puttini, Piercarlo, Pappone, Nicola, Atzeni, Fabiola, Verlaan, Jorrit-Jan, Kuperus, Jonneke, Bieber, Amir, Ambrosino, Pasquale, Kiefer, David, Khan, Muhammad Asim, Mader, Reuven, Baraliakos, Xenofon, Bruges-Armas, Jácome
Published in Frontiers in genetics (2024)
Published in Frontiers in genetics (2024)
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Journal Article
Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review
Couto, Ana Rita, Parreira, Bruna, Power, Deborah M, Pinheiro, Luís, Madruga Dias, João, Novofastovski, Irina, Eshed, Iris, Sarzi-Puttini, Piercarlo, Pappone, Nicola, Atzeni, Fabiola, Verlaan, Jorrit-Jan, Kuperus, Jonneke, Bieber, Amir, Ambrosino, Pasquale, Kiefer, David, Khan, Muhammad Asim, Mader, Reuven, Baraliakos, Xenofon, Bruges-Armas, Jácome
Published in Frontiers in genetics (07.10.2022)
Published in Frontiers in genetics (07.10.2022)
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Journal Article
Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates
Parreira, Bruna, Cardoso, João C R, Costa, Rita, Couto, Ana Rita, Bruges-Armas, Jácome, Power, Deborah M
Published in Scientific reports (16.04.2018)
Published in Scientific reports (16.04.2018)
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HLA-A, -B, -C, -DQA1, -DQB1, -DRB1, -E, -F and -G genotyping of 130 individuals from Terceira Island, Azores, Portugal
Bettencourt, Bruno Filipe, Santos, Margarida Rodrigues, Pereira, Joaquim, Amaro, Bruna, Fialho, Raquel, Meneses, Raquel, Couto, Ana Rita, Bruges Armas, Jácome
Published in Human immunology (01.06.2016)
Published in Human immunology (01.06.2016)
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The Role of Biobanks in the Fight against COVID-19 Pandemic: The Portuguese Response
Abdulghani, Saba, Afonso, Ângela, Castillo, Mireia, Martín-Fernández, Javier, Franco, Inês, Parreira, Bruna, Couto, Ana, Bruges-Armas, Jácome, Rodrigues, Ana Maria, Gonçalves, Ana, Dias, Alexandre, Toader, Ionela, Lopes, Andreia, Faria, Cláudia, Marques, Fernanda, Sousa, João Carlos, Silvestre, Ricardo, Pereira, Paulo, Correia, Manuel, Maia, Luís, Canhão, Helena, Dias, Sérgio
Published in Acta medica portuguesa (01.06.2022)
Published in Acta medica portuguesa (01.06.2022)
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Contribution of KIR3DL1/3DS1 to ankylosing spondylitis in human leukocyte antigen-B27 Caucasian populations
Lopez-Larrea, Carlos, Blanco-Gelaz, Miguel Angel, Torre-Alonso, Juan Carlos, Bruges Armas, Jacome, Suarez-Alvarez, Beatriz, Pruneda, Laura, Couto, Ana Rita, Gonzalez, Segundo, Lopez-Vázquez, Antonio, Martinez-Borra, Jesus
Published in Arthritis research & therapy (01.01.2006)
Published in Arthritis research & therapy (01.01.2006)
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Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia
Gruber, Barry L, Couto, Ana Rita, Armas, Jácome Bruges, Brown, Matthew A, Finzel, Kathleen, Terkeltaub, Robert A
Published in Journal of clinical rheumatology (01.06.2012)
Published in Journal of clinical rheumatology (01.06.2012)
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Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)
Bettencourt, Conceição, Fialho, Raquel Nunes, Santos, Cristina, Montiel, Rafael, Bruges-Armas, Jácome, Maciel, Patrícia, Lima, Manuela
Published in Journal of human genetics (01.04.2008)
Published in Journal of human genetics (01.04.2008)
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Journal Article
Genetic Predictors of Poor Prognosis in Portuguese Patients with Juvenile Idiopathic Arthritis: Data from Reuma.pt
Lopes, Ana, Bettencourt, Bruno F., Bruges Armas, J., Furtado, Carolina, Figueira, Ricardo, Brito, Iva, Branco, Jaime Cunha, Fonseca, Joao Eurico, Canhão, Helena, Martins, Fernando, Melo Gomes, José António, Estanqueiro, Paula, Salgado, Manuel, Oliveira-Ramos, Filipa, Mendonça, Sílvia, Santos, Maria José, Mourão, Ana Filipa, Costa, José António
Published in Journal of Immunology Research (01.01.2015)
Published in Journal of Immunology Research (01.01.2015)
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Journal Article
Novel Fast Reverse Transcriptase PCR Assay for Molecular Detection of Human Influenza A (H1N1) Virus
Dutra, Isa F, Bettencourt, Bruno F, Fialho, Raquel N, Couto, Ana R, Soares, Marta S, Santos, Margarida R, Pinheiro, João P, Bruges-Armas, Jácome
Published in Journal of clinical microbiology (01.05.2010)
Published in Journal of clinical microbiology (01.05.2010)
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