Luisa Azevedo
Luisa Azevedo
Researcher, IPATIMUP
Verified email at ipatimup.pt
Title
Cited by
Cited by
Year
An X-linked haplotype of Neandertal origin is present among all non-African populations
V Yotova, JF Lefebvre, C Moreau, E Gbeha, K Hovhannesyan, ...
Molecular Biology and Evolution 28 (7), 1957-1962, 2011
1162011
Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome
A Ramos, C Santos, L Mateiu, M del Mar Gonzalez, L Alvarez, L Azevedo, ...
PloS one 8 (10), e74636, 2013
782013
Gains, Losses and Changes of Function after Gene Duplication: Study of the Metallothionein Family
A Moleirinho, J Carneiro, R Matthiesen, RM Silva, A Amorim, L Azevedo
PloS one 6 (4), e18487, 2011
662011
Epistatic interactions: how strong in disease and evolution?
L Azevedo, G Suriano, B van Asch, RM Harding, A Amorim
Trends in Genetics 22 (11), 581-585, 2006
482006
Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)
T Almeida, I Alonso, S Martins, EM Ramos, L Azevedo, K Ohno, A Amorim, ...
PloS one 4 (2), e4553, 2009
432009
NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples
S Duarte-Pereira, SS Silva, L Azevedo, L Castro, A Amorim, RM Silva
Scientific reports 4, 2014
392014
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
C Nogueira, J Barros, MJ S, L Azevedo, R Taipa, A Torraco, ...
Neurogenetics 14 (2), 153-160, 2013
382013
Discussion on common data analysis strategies used in MS‐based proteomics
R Matthiesen, L Azevedo, A Amorim, AS Carvalho
Proteomics 11 (4), 604-619, 2011
372011
Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response
L Azevedo, C Serrano, A Amorim, DN Cooper
Human genomics 9 (1), 1-6, 2015
352015
Epistatic interactions modulate the evolution of mammalian mitochondrial respiratory complex components
L Azevedo, J Carneiro, B Van Asch, A Moleirinho, F Pereira, A Amorim
BMC genomics 10 (1), 266, 2009
352009
Novel L2HGDH mutations in 21 patients with L‐2‐hydroxyglutaric aciduria of Portuguese origin
L Vilarinho, ML Cardoso, P Gaspar, C Barbot, L Azevedo, L Diogo, ...
Human Mutation 26 (4), 395-396, 2005
322005
Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene
R Quental, L Azevedo, V Rubio, L Diogo, A Amorim
Clinical genetics 75 (5), 457-464, 2009
302009
The Human Gene Mutation Database (HGMD): optimizing its use in a clinical diagnostic or research setting
PD Stenson, M Mort, EV Ball, M Chapman, K Evans, L Azevedo, ...
Human Genetics, 1-11, 2020
282020
Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations
M Ferreira, T Evangelista, LS Almeida, J Martins, MC Macario, E Martins, ...
Neuromuscular Disorders 21 (7), 483-488, 2011
232011
Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients
F Ferreira, S Esteves, LS Almeida, A Gaspar, CD da Costa, P Janeiro, ...
Gene 527 (1), 366-370, 2013
202013
Improving the in silico assessment of pathogenicity for compensated variants
L Azevedo, M Mort, AC Costa, RM Silva, D Quelhas, A Amorim, ...
European Journal of Human Genetics, 2016
192016
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2
D Quelhas, R Quental, L Vilarinho, A Amorim, L Azevedo
Annals of Human Genetics 71 (3), 348-353, 2007
192007
Major influence of repetitive elements on disease-associated copy number variants (CNVs)
AR Cardoso, M Oliveira, A Amorim, L Azevedo
Human Genomics 10 (1), 30, 2016
182016
Essential genetic findings in neurodevelopmental disorders
AR Cardoso, M Lopes-Marques, RM Silva, C Serrano, A Amorim, ...
Human genomics 13 (1), 31, 2019
162019
The Yeast Saccharomyces cerevisiae as a Model for Understanding RAS Proteins and Their Role in Human Tumorigenesis
G Cazzanelli, F Pereira, S Alves, R Francisco, L Azevedo, ...
Cells 7 (2), 14, 2018
162018
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Articles 1–20