Zobrazeno 1 - 5
of 5
pro vyhledávání: '"João Freixo"'
Autor:
Gonçalo Luzes Padeira, Catarina Araújo, Ana Isabel Cordeiro, João Freixo, Catarina Gregório Martins, João Farela Neves
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
In immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosi
Externí odkaz:
https://doaj.org/article/d050916f23fa48a6bd3a29d3d34bc06c
Autor:
Catarina Martins, Filipa Marujo, Ana Cordeiro, Simon J. Pelham, João Farela Neves, Wei-Te Lei, João Freixo, Anne Puel, Jean-Laurent Casanova
Publikováno v:
J Clin Immunol
Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622d82b9cb887a7c5bfd6f9790445e39
https://europepmc.org/articles/PMC8316359/
https://europepmc.org/articles/PMC8316359/
Autor:
S. Fragoso, Fátima Vaz, S. Bento, T. Duarte, Mariana Fernandes, Filipe Bacelar, I. Miguel, João Freixo, Sara Câmara, A. Luís, Ana Clara, J. Parreira, S. Santos, Paula Rodrigues, F. Rodrigues
Publikováno v:
Ecancermedicalscience. 15
Access to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we characterise the H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e816f5e361041d73770de08f73463fed
https://pubmed.ncbi.nlm.nih.gov/34567246
https://pubmed.ncbi.nlm.nih.gov/34567246
Autor:
Joana Fino, Inês Carvalho, Dezső David, Manuela Cardoso, Raul E. Piña-Aguilar, Mariana Marques, Cynthia C. Morton, João Freixo
Publikováno v:
David, D, Freixo, J P, Fino, J, Carvalho, I, Marques, M, Cardoso, M, Piña-aguilar, R E & Morton, C C 2020, ' Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape ', Human Genetics . https://doi.org/10.1007/s00439-020-02121-x
Acknowledgements We dedicate this article to Maria Guida Boavida who founded the Human Genetics Laboratory as the precursor of the current Department of Human Genetics at the National Health Institute Doutor Ricardo Jorge, Lisbon, Portugal. She and h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bccff69d82ff6ce5da64043a8215c03e
https://pubmed.ncbi.nlm.nih.gov/32030560
https://pubmed.ncbi.nlm.nih.gov/32030560
Autor:
Daniela Franco, Daniela Alves, Ana Cristina Almeida, Carlos Costa Almeida, Cecília Moreno, Joâo Freixo
Publikováno v:
Acta Médica Portuguesa, Vol 28, Iss 4 (2015)
O dedo azul não-isquémico espontâneo é uma entidade rara e benigna, caracterizada pela alteração da coloração isolada de um dedo, com aparecimento e resolução espontânea. Este artigo relata o caso de uma mulher de 88 anos, que após alguma
Externí odkaz:
https://doaj.org/article/7caa15b0f0994f79b52bb55c880f697f