关注
Luísa Azevedo
Luísa Azevedo
PhD, Senior researcher at ICBAS and UMIB/ICBAS, University of Porto
在 icbas.up.pt 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
8932020
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
1232011
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
1022011
Frequency and pattern of heteroplasmy in the complete human mitochondrial genome
A Ramos, C Santos, L Mateiu, MM Gonzalez, L Alvarez, L Azevedo, ...
PloS one 8 (10), e74636, 2013
952013
Essential genetic findings in neurodevelopmental disorders
AR Cardoso, M Lopes-Marques, RM Silva, C Serrano, A Amorim, ...
Human genomics 13, 1-7, 2019
832019
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 (1), 1-7, 2014
602014
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
C Nogueira, J Barros, MJ Sá, L Azevedo, R Taipa, A Torraco, ...
Neurogenetics 14 (2), 153-160, 2013
552013
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
542006
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
512015
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
512009
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, PD Carvalho, ...
Cells 7 (2), 14, 2018
432018
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
412005
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
402011
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
402009
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
312009
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 25 (1), 2-7, 2017
302017
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
272016
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
262013
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
262011
Molecular Markers: An Overview of Data Published for Fungi over the Last Ten Years
M Oliveira, L Azevedo
Journal of Fungi 8 (8), 803, 2022
252022
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