3 documents found, page 1 of 1
Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reve...
Ribeiro, Andreia Fiúza; Fitas, Ana Laura; Pires, Marcela Oliveira; Matoso, Paula; Ligeiro, Dário; Sobral, Daniel; Penha-Gonçalves, CarlosPublisher Copyright: Copyright © 2024 Andreia Fiúza Ribeiro et al.; Aims: This study is aimed at comparing whole exome sequencing (WES) data with the clinical presentation in children with type 1 diabetes onset ≤ 5 years of age (EOT1D). Methods: WES was performed in 99 unrelated children with EOT1D with subsequent analysis to identify potentially deleterious rare variants in MODY genes. High-resolution HLA clas...
The rare DRB1*04:08-DQ8 haplotype is the main HLA class II genetic driver and d...
Caramalho, Iris; Matoso, Paula; Ligeiro, Dário; Paixão, Tiago; Sobral, Daniel; Fitas, Ana Laura; Limbert, Catarina; Demengeot, JocelyneFunding Information: The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by the European Foundation for the Study of Diabetes (EFSD/JDRF/Lilly Programme 2016), Maratona da Saúde and Fundação para a Ciência e a Tecnologia (CEECIND/00148/2017 to Iris Caramalho). Acknowledgments Publisher Copyright: Copyright © 2024 Caramalh...
Saliva molecular testing bypassing RNA extraction is suitable for monitoring an...
Alenquer, Marta; Silva, Tiago Milheiro; Akpogheneta, Onome; Ferreira, Filipe; Vale-Costa, Sílvia; Medina-Lopes, Mónica; Batista, FredericoFunding Information: This work was funded by the Fundação para a Ciência and Tecnologia (FCT, Portugal) under RESEARCH4COVID 19 call with reference 283_596885654 and co-funded by ANI under INOV4COVID (Funding to V.M.B.). M.J.A. is funded by the FCT (CEECIND/02373/2020). M.A. is funded by a Junior Researcher working contract from FCT and Instituto Gulbenkian de Ciência (IGC, Portugal). This work benefited from C...