Detalhe da pesquisa
1.
Lower prevalence of congenital cytomegalovirus infection in Portugal: possible impact of COVID-19 lockdown?
Eur J Pediatr
; 181(3): 1259-1262, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34595613
2.
Saliva pools for screening of human cytomegalovirus using real-time PCR.
Eur J Pediatr
; 180(4): 1067-1072, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33052471
3.
Genetic Variation of MT-ND Genes in Frontotemporal Lobar Degeneration: Biochemical Phenotype-Genotype Correlation.
Neurodegener Dis
; 15(2): 70-80, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25871488
4.
Validation of control of allergic rhinitis and asthma test for children (CARATKids)--a prospective multicenter study.
Pediatr Allergy Immunol
; 25(2): 173-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24628568
5.
Antenatal manifestations of mitochondrial disorders.
J Inherit Metab Dis
; 36(5): 805-11, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23361304
6.
Pooling Saliva Sample as an Effective Strategy for the Systematic CMV Screening of Newborns-A Multicentric Prospective Study.
Pediatr Infect Dis J
; 42(12): 1117-1120, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37725820
7.
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Neuromuscul Disord
; 28(4): 350-360, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398297
8.
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.
Eur J Med Genet
; 60(3): 172-177, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027978
9.
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
Mitochondrion
; 31: 84-88, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27756633
10.
Metabolic effects of hypoxia in colorectal cancer by 13C NMR isotopomer analysis.
Biomed Res Int
; 2014: 759791, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25093181
11.
Response to "In silico prediction is insufficient to assess pathogenicity of mtDNA variants".
Eur J Med Genet
; 61(1): 46-47, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28807868
12.
Frontotemporal dementia and mitochondrial DNA transitions.
Neurobiol Dis
; 15(2): 306-11, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15006700