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List of works by Cristina Santos

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

scientific article published on 9 August 2008

Cross-sectional study of risk factors for atherosclerosis in the Azorean population.

scientific article published on 15 February 2011

Differential mtDNA damage patterns in a transgenic mouse model of Machado-Joseph disease (MJD/SCA3).

scientific article published on 8 July 2014

Evaluation of two methods for computational HLA haplotypes inference using a real dataset

scientific article

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

scientific article

Frequency and pattern of heteroplasmy in the control region of human mitochondrial DNA.

scientific article

GBA Mutations Are Associated With Earlier Onset and Male Sex in Dementia With Lewy Bodies.

scientific article published on 29 March 2016

Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs.

scientific article

Genetic structure and origin of peopling in the Azores islands (Portugal): the view from mtDNA.

scientific article published on September 2003

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

scientific article

Involvement of mitochondrial haplogroups in myocardial infarction and stroke: A case-control study in Castile and Leon (Spain) population

scientific article published on 16 December 2017

Linguistic isolates in Portugal: insights from the mitochondrial DNA pattern

scientific article

Mitochondrial DNA and Y-chromosome structure at the mediterranean and atlantic façades of the iberian peninsula

scientific article (publication date: 26 December 2013)

Mitochondrial DNA mutations in cancer: a review.

scientific article published on January 2008

Mitochondrial DNA patterns in the Iberian Northern plateau: population dynamics and substructure of the Zamora province

scientific article

Molecular polymorphism of the ABO blood group: a study in Poland, Spain, and Andorra.

scientific article published on 27 March 2014

Mutation patterns of mtDNA: empirical inferences for the coding region

scientific article

Nuclear insertions of mitochondrial origin: Database updating and usefulness in cancer studies

scientific article (publication date: November 2011)

Peopling, demographic history and genetic structure of the Azores Islands: Integrating data from mtDNA and Y-chromosome

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal

scientific article

Primer effect in the detection of mitochondrial DNA point heteroplasmy by automated sequencing

scientific article published on 25 January 2013

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

scientific article published on 20 February 2008

Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3)

article

Sex selection in late Iberian infant burials: Integrating evidence from morphological and genetic data

scientific article published on 16 December 2018

Testing hierarchical levels of population sub-structuring: the Azores islands (Portugal) as a case study

scientific article published on 24 October 2007

The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.

scientific article published on 25 November 2009

The African contribution to the present-day population of the Azores Islands (Portugal): analysis of the Y chromosome haplogroup E.

scientific article published in November 2007

The decrease of β-synuclein in cortical brain areas defines a molecular subgroup of dementia with Lewy bodies

scientific article published on 19 October 2010

The presence of nuclear families in prehistoric collective burials revisited: the bronze age burial of Montanissell Cave (Spain) in the light of aDNA.

scientific article

The role of control region mitochondrial DNA mutations in cardiovascular disease: stroke and myocardial infarction

scientific article published on 17 February 2020

Tracing the origin of the east-west population admixture in the Altai region (Central Asia)

scientific article published in 2012

Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal).

scientific article published on 6 April 2005

Validated primer set that prevents nuclear DNA sequences of mitochondrial origin co-amplification: a revision based on the New Human Genome Reference Sequence (GRCh37).

scientific article published on 11 January 2011

Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias

scientific article published on 10 October 2015

Y-chromosome analysis in a Northwest Iberian population: unraveling the impact of Northern African lineages.

scientific article published on 14 August 2014

Y-chromosome variation in South Iberia: insights into the North African contribution

scientific article (publication date: 2009)

[Relationship between COMT gene genotypes and severity of fibromyalgia].

scientific article

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