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List of works by Luisa Azevedo

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

scientific article published on 3 September 2016

An X-linked haplotype of Neandertal origin is present among all non-African populations

scientific article

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

scientific article

Characterization of human NLZ1/ZNF703 identifies conserved domains essential for proper subcellular localization and transcriptional repression ⬇️

scientific article published on January 1, 2013

Characterization of the Human Ornithine Transcarbamylase 3′ Untranslated Regulatory Region ⬇️

scientific article published on November 4, 2011

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity

scientific article published on 03 June 2021

Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates

scientific article

Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations inPMM2

scientific article published on 12 December 2006

Discussion on common data analysis strategies used in MS-based proteomics.

scientific article

Epistatic interactions modulate the evolution of mammalian mitochondrial respiratory complex components

scientific article

Epistatic interactions: how strong in disease and evolution?

scientific article published on 5 September 2006

Essential genetic findings in neurodevelopmental disorders

scientific article published on 09 July 2019

Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene

scientific article

Evolutionary history and functional diversification of phosphomannomutase genes

scientific article published on 27 July 2010

Frequency and pattern of heteroplasmy in the complete human mitochondrial genome.

scientific article

Gains, losses and changes of function after gene duplication: study of the metallothionein family

scientific article

Haplotype study of microsatellites flanking the t(15;17) breakpoint in acute promyelocytic leukemia patients from North Portugal.

scientific article published in July 2002

Human carbamoyl phosphate synthetase I (CPSI): insights on the structural role of the unknown function domains

scientific article published on 10 April 2012

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.

scientific article published on 25 September 2013

Identification of novel L2HGDH gene mutations and update of the pathological spectrum

scientific article

Improving the in silico assessment of pathogenicity for compensated variants.

scientific article published on 5 October 2016

In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.

scientific article

Internal validation of two new retrotransposons-based kits (InnoQuant® HY and InnoTyper® 21) at a forensic lab.

scientific article published on 29 November 2017

Major influence of repetitive elements on disease-associated copy number variants (CNVs)

scientific article

Molecular Markers: An Overview of Data Published for Fungi over the Last Ten Years

scientific article published in 2022

Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene

article

Mutational Spectrum and Linkage Disequilibrium Patterns at the Ornithine Transcarbamylase Gene (OTC)

article

NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples.

scientific article

New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis

scientific article

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

scientific article published on 28 March 2013

Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis

scientific article published on 01 May 2002

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

scientific article

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations

scientific article published on 07 May 2011

Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals

scientific article published on 30 July 2011

The evolutionary portrait of metazoan NAD salvage

scientific article

The mitochondrial genome of the pinewood nematode (Bursaphelenchus xylophilus) lineage introduced in Europe.

scientific article

The role of recombination in the origin and evolution of Alu subfamilies

scientific article

Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response

scientific article

Transcriptional regulation of the human mitochondrial peptide deformylase (PDF).

scientific article

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.

scientific article

Using plants in forensics: State-of-the-art and prospects

scientific article published in 2023

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