RESEARCH ACTIVITIES AND INTERESTS
Molecular evolution, population genetics

EDUCATION
1994-1999: B.Sc. in biology, Faculty of Sciences, University of Porto
2000-2003: Ph.D. in Human Genetics, IPATIMUP and Faculty of Sciences, University of Porto
2004-2008: Post-doc researcher in IPATIMUP
2008-present: Researcher, IPATIMUP.

RECENT PUBLICATIONS
Moleirinho A, Carneiro J, Matthiesen R, Silva RM, Amorim A and Azevedo L.
Gains, losses and changes of function after gene duplication: study of the metallothionein family.
PloS ONE 2011, (Accepted).

Yotova V, Lefebvre J-F, Moreau C, Gbeha E, Hovhannesyan K, Bourgeois S, Bédarida S, Azevedo L, Amorim A, Sarkisian T, Avogbe P, Chabi N, Dicko MH, Kou ES, Amouzou S, Sanni A,  Roberts-Thomson J,  Boettcher  B, Scott RJ, Labuda D.
An X-linked haplotype of Neandertal origin is present among all non-african populations.
Mol Biol Evol 2011, Mol Biol Evol first published online January 25, 2011 doi:10.1093/molbev/msr024

Matthiesen R, Azevedo L, Amorim A, Carvalho A.
Discussion on common data analysis strategies used in MS-based proteomics.
Proteomics. Special Issue: Reviews 2011, 11 (4), pages 604–619.

Quental R, Azevedo L, Matthiesen R, Amorim A.
Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates.
BMC Evolutionary Biology 2010, 10:212.

Quental R, Moleirinho A, Azevedo L, Amorim A.
Evolutionary history and functional diversification of phosphomannomutase genes.
J Mol Evol. 2010, 71(2):119-27.

Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L.
Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
J Hum Genet. 2010, 55(1):55-8.

Azevedo L, Carneiro J, van Asch B, Moleirinho A, Pereira F, Amorim A.
Epistatic interactions modulate the evolution of mammalian mitochondrial respiratory complex components
BMC Genomics. 2009. 10:266.

Quental R, Azevedo L, Diogo L, Rubio V, Amorim A.
Molecular mechanisms underlying large genomic deletions in Ornithine Transcarbamylase (OTC) gene.
Clinical Genetics. 2009. 75: 457.

Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, Sequeiros J, Silveira I.
Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).
PLoS ONE. 2009. 4(2):e4553.

Suriano G, Azevedo L, Novais M, Boscolo B, Seruca R, Amorim A, Ghibaudi EM.
In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.
Hum Mol Genet. 2007. 16:2209-14.

Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L.
Congenital Disorder of Glycosylation type Ia: searching the origins of common mutations in PMM2.
Annals of Human Genetics. 2007. 71:348-53.

Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A.
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
Annals Hum Genet. 2007. 70:797-801.

Azevedo L, Suriano G, Van Asch B, Harding RM, Amorim A.
Epistatic interactions: how strong in disease and evolution?
Trends in Genetics. 2006. 22:581-5.

Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I et al.
Novel mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Human Mutation. 2005. 26: 395. 

Azevedo L, Climent C, Vilarinho L, Amorim A.
Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.
Human Mutation 2004, 24:273

Azevedo L, Stolnaja L, Tietzeova E, Hrebicek M, Hruba E, Vilarinho L, Amorim A, Dvorakova L.
New polymorphic sites within ornithine transcarbamylase (OTC) gene: population genetics studies and implications for diagnosis.
Mol Genet Metab 2003, 78:152

Azevedo L, Calafell F, Vilarinho L, Amorim, A.
Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms.
Ann. Hum. Genet. 2002, 66:379

Azevedo L, Vilarinho L, Teles EL, Amorim A.
Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.
Mol Genet Metab. 2002, 76:68

Martins S, Trigo F, Azevedo L, Silva MJ, Guimaraes JE, Amorim A.
Haplotype study of microsatellites flanking the t (15;17) breakpoint in acute promyelocytic leukemia patients from North Portugal.
Leukemia 2002, 16:1353


BOOK CHAPTERS
Azevedo L, Amorim A.
Ornithine Transcarbamylase Deficiency: Genetics.
2007. In Encyclopedia of Life Sciences, John Wiley & Sons

PRIZES AND AWARDS
2007: Portuguese Society of Human Genetics

RESEARCH PROJECTS
2009-2011: PIC/IC/82794/2007 "Molecular diagnosis of OTC deficiency: too many unsolved cases" (Principal Investigator)

2006-2009: PTDC/CVT/64154/2006 "A Trans-Specific Genomic Analysis To Comprehend The Physiological Impact Of Inactivated Genes"
(Principal Investigator)

2005-2007: POCI/CVT/58082/2004 Study of pathological phenotypic heterogeneity using the ornithine transcarbamylase (OTC) as model (research member)

2002-2004: POCTI/MGI/35809/2000 Ornithine transcarbamylase deficiency: mutational spectrum, haplotipic analysis and diagnosis (research member)