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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Hermida-Ameijeiras Á, Sánchez-Pintos P, de Castro MJ, León SR, Gil-Fournier B, Domínguez-González C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML. Barbosa-Gouveia S, et al. Among authors: laranjeira f. J Clin Med. 2022 May 12;11(10):2750. doi: 10.3390/jcm11102750. J Clin Med. 2022. PMID: 35628876 Free PMC article.
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S, da Silva Santos T, Fonseca L, Assunção G, Lopes AM, Duarte DB, Soares AR, Laranjeira F, Ribeiro I, Pinto E, Rocha S, Barbosa Gouveia S, Vazquez-Mosquera ME, Oliveira MJ, Borges T, Cardoso MH. Santos Monteiro S, et al. Among authors: laranjeira f. Acta Diabetol. 2023 Jan;60(1):83-91. doi: 10.1007/s00592-022-01980-2. Epub 2022 Oct 8. Acta Diabetol. 2023. PMID: 36208343
MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance.
da Silva Santos T, Fonseca L, Santos Monteiro S, Borges Duarte D, Martins Lopes A, Couto de Carvalho A, Oliveira MJ, Borges T, Laranjeira F, Couce ML, Cardoso MH. da Silva Santos T, et al. Among authors: laranjeira f. Endocrinol Diabetes Metab. 2022 Sep;5(5):e00332. doi: 10.1002/edm2.332. Epub 2022 Jul 12. Endocrinol Diabetes Metab. 2022. PMID: 35822264 Free PMC article.
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Among authors: laranjeira f. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Quelhas D, et al. Among authors: laranjeira f. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
35 results