Search filters

List of works by António Amorim

17 STR data (AmpF/STR Identifiler and Powerplex 16 System) from Cabinda (Angola).

scientific article

2004–2005 GEP proficiency testing programs: Special emphasis on the interlaboratory analysis of mixed stains

4SpecID: Reference DNA Libraries Auditing and Annotation System for Forensic Applications

scientific article published on 02 January 2021

A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations

scientific article

A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations.

scientific article published on 22 September 2017

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3

scientific article published on 05 February 2019

A SNaPshot multiplex typing strategy for mtDNA identification of mouse inbred strains

A case of double alleles at three Y-STR loci: forensic implications

scientific article published on 03 February 2005

A cautionary note on the evaluation of genetic evidence from uniparentally transmitted markers

article

A comment on "The hare and the tortoise: one small step for four SNPs, one giant leap for SNP-kind".

scientific article published on 10 May 2010

A forensic perspective on the genetic identification of grapevine (Vitis vinifera L.) varieties using STR markers.

scientific article

A framework for the development of STR genotyping in domestic animal species: characterization and population study of 12 canine X-chromosome loci

scientific article published in January 2010

A general method to assess the utility of the X-chromosomal markers in kinship testing

scientific article published on 17 May 2011

A genetic historical sketch of European Gypsies: The perspective from autosomal markers

scientific article published in April 2010

A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR

article

A molecular analysis of the armadillo Dasypus novemcinctus (Mammalia: Dasypodidae), one of the most common victim of poaching in America

A multiplex PCR assay for identification of the red fox (Vulpes vulpes) using the mitochondrial ribosomal RNA genes

article

A multiplex PCR design for simultaneous genotyping of X chromosome short tandem repeat markers

A multiplex primer extension assay for the rapid identification of paternal lineages in domestic goat (Capra hircus): Laying the foundations for a detailed caprine Y chromosome phylogeny

scientific article published on 10 September 2008

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus

A new algorithm for mtDNA sequence clustering

A new autosomal STR multiplex for canine genotyping

A new autosomal STR nineplex for canine identification and parentage testing

scientific article published in January 2009

A new multiplex for human identification using insertion/deletion polymorphisms

scientific article published in November 2009

A new mutation at exon 2 of hprt1 locus causing Lesch-Nyhan Syndrome

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

scientific article published on 16 May 2014

A novel alpha-1-antitrypsin r281del variant found in a population sample from the Basque country

scientific article published in January 2000

A perspective on the history of the Iberian gypsies provided by phylogeographic analysis of Y-chromosome lineages

scientific article

A recent shift from polygyny to monogamy in humans is suggested by the analysis of worldwide Y-chromosome diversity

scientific article

A review of the collaborative exercises on DNA typing of the Spanish and Portuguese ISFH Working Group. International Society for Forensic Haemogenetics.

scientific article published on January 1997

A simulation-based approach to evaluate population stratification in Argentina

article

A technical note on esterase D subtyping

Adenosine deaminase polymorphisms at the protein and DNA levels

scientific article published on 01 December 1999

Admixture and genetic diversity distribution patterns of non-recombining lineages of Native American ancestry in Colombian populations

scientific article

African STR data based on a newly developed tetraplex fluorescent system (CD4, F13A01, FES and MBPB)

African female heritage in Iberia: a reassessment of mtDNA lineage distribution in present times

scientific article

Allele frequencies for 15 autosomal STR markers in the Libyan population

scientific article published on November 2011

Allelic Affinities between the F13A Common Gene Products Inferred by the Analysis of an (AAAG)n STR Polymorphism within the 5′ Untranslated Region

article

Alternative primers for DYS391 typing: advantages of their application to forensic genetics

article

Aminolevulinate dehydratase (E.C. 4.2.1.24): Linkage analysis

scientific article published on 01 January 1982

Amphibians on the hotspot: Molecular biology and conservation in the South American Atlantic Rainforest

scientific article published on 23 October 2019

An INDEL polymorphism at the X-STR GATA172D05 flanking region

scientific article

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

scientific article

An assessment of the clonality of the components of canine mixed mammary tumours by mitochondrial DNA analysis

scientific article

An evaluation of the proportion of identical Y-STR haplotypes due to recurrent mutation

Analysis of 10 X-STRs in three African populations

scientific article published on 6 March 2007

Analysis of 15 autosomal STR loci in the population of the State of Acre, Brazilian Amazonia

article

Analysis of STR loci in Cartagena, a Caribbean city of Colombia

scientific article published on 15 July 2005

Analysis of TPI gene promoter variation in three sub-Saharan Africa population samples

scientific article published on January 2009

Analysis of inter-specific mitochondrial DNA diversity for accurate species identification

Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers.

scientific article published on 17 October 2009

Analysis of the allelic diversity of a (CA)n repeat polymorphism among alpha 1-antitrypsin gene products from northern Portugal

scientific article

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

scientific article

Ancestry estimates in afrodescendant population from San Basilio de Palenque, Colombia

article

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

Asian online Y-STR Haplotype Reference Database

scientific article

Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel.

scientific article published in February 2010

Assessing interethnic admixture using an X-linked insertion-deletion multiplex

scientific article

Assessing paternities with inconclusive STR results: The suitability of bi-allelic markers.

scientific article published in June 2012

Assessing the potential application of X-chromosomal haploblocks in population genetics and forensic studies

article

Association between STRs from the X chromosome in a sample of Portuguese Gypsies

article

Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations

scientific article (publication date: 31 May 2014)

Autosomal indels distribution in Metropolitan Manila, Philippines

scholarly article by M.C.A. Magalhães et al published December 2015 in Forensic Science International: Genetics Supplement Series

Autosomic STR population data in two Caribbean samples from Colombia

scientific article

Bantu and European Y-lineages in Sub-Saharan Africa

scientific article published on November 2002

Basic Principles

Big data in forensic genetics

article

Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model

article

Capillary Electrophoresis Analysis of a 9-plex STR Assay for Canine Genotyping ⬇️

scientific article published on January 1, 2012

Characterization of four short tandem repeat loci (THO1, VWA31/A, CD4, and TP53) in northern Portugal.

scientific article published in February 1997

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

scientific article published on November 4, 2011

Characterization of three new VNTR alleles in the promoter region of the TPMT gene

article

Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers

scientific article

Chimpanzee homologous of human Y specific STRs. A comparative study and a proposal for nomenclature

scientific article

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease

scientific article published in June 2008

Clustered transcripts that escape X inactivation at mouse XqD.

scientific article

Colombia's racial crucible: Y chromosome evidence from six admixed communities in the Department of Bolivar

scientific article published on 11 November 2013

Comment on "An association between the kinship and fertility of human couples".

scientific article published in December 2008

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

Comparative evaluation of alternative batteries of genetic markers to complement autosomal STRs in kinship investigations: autosomal indels vs. X-chromosome STRs

scientific article published on 01 September 2012

Comparative performance between "next generation" multiplex systems and the new European Standard Set of STR markers in the Portuguese Population

scientific article published on 8 September 2013

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

scientific article published on 12 December 2006

Contribution for an African autosomic STR database (AmpF/STR Identifiler and Powerplex 16 System) and a report on genotypic variations

scientific article

Corrigendum to “Data for 15 autosomal STR markers (Powerplex 16 System) from two Tunisian populations: Kesra (Berber) and Zriba (Arab)” [Forensic Sci. Int. 147 (2005) 101–106]

scholarly article published in Forensic Science International

Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora

scientific article published in 2008

DNA Barcoding and Atlantic reef fishes: The molecular identification of a reef fish community from the Todos os Santos Bay, Bahia, Brazil

article

Data for 15 autosomal STR markers (Powerplex 16 System) from two Tunisian populations: Kesra (Berber) and Zriba (Arab).

scientific article

Data for Y-chromosome haplotypes defined by 17 STRs (AmpFLSTR Yfiler) in two Tunisian Berber communities

scientific article

Demographic history of Canary Islands male gene-pool: replacement of native lineages by European

scientific article

Detection of additional structural variation at the FES/FPS system and population data from S. Tomé e Príncipe and North Portugal

scientific article

Determination of Azole Resistance and TR34/L98H Mutations in Isolates of Aspergillus Section Fumigati from Turkish Cystic Fibrosis Patients

scientific article published on 06 September 2018

Differential slave trade to Europe and Brazil from the western and eastern African coasts as registered in the mtDNA pool

article

Digging deeper into East African human Y chromosome lineages

scientific article

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

scientific article

Dissecting the Genetic History of São Tomé e Príncipe: A New Window from Y-Chromosome Biallelic Markers

scientific article published on 01 January 2007

Distinctive patterns of evolution of the δ-globin gene (HBD) in primates

scientific article published on 8 April 2015

Distinguishing kinship from genealogical likelihoods

article by Nádia Pinto et al published December 2009 in Forensic Science International: Genetics Supplement Series

Distribution of Y-chromosome STR defined haplotypes in Iberia

scientific article published on 01 May 2000

DivStat: a user-friendly tool for single nucleotide polymorphism analysis of genomic diversity.

scientific article

Diversity and specificity of microsatellites within Aspergillus section Fumigati ⬇️

scientific article published on July 28, 2012

Diversity in the androgen receptor CAG repeat has been shaped by a multistep mutational mechanism

scientific article published on 31 July 2014

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique

scientific article published on May 2007

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants

scientific article

Editorial: [Introduction to the Special Issue on Forensic Genetics: Non-Human DNA (Guest Editor: Antonio Amorim)]

article

Enriching the knowledge on East Asia populations: Characterization of male lineages from Macau and Shanghai

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

Estimating coancestry from genotypes using a linear regression method

article

Estimating relatedness with no prior specification of any genealogy: The role of the X-chromosome

article

Evaluating the Neolithic Expansion at Both Shores of the Mediterranean Sea.

scientific article published on 26 September 2017

Evaluating the X chromosome-specific diversity of Colombian populations using insertion/deletion polymorphisms

scientific article published on 31 January 2014

Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale

scientific article published in August 2005

Evaluating the informative power of Y-STRs: a comparative study using European and new African haplotype data

scientific article

Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: sequence variation, repeat structure, and nomenclature

scientific article published on 18 June 2009

Evaluation of InnoQuant® HY and InnoTyper® 21 kits in the DNA analysis of rootless hair samples

scientific article published on 17 December 2018

Evaluation of heteroplasmy detection in the Ion Torrent PGM

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

scientific article

Evidence for population sub-structuring in São Tomé e Príncipe as inferred from Y-chromosome STR analysis

scientific article

Evidence for variable selective pressures at a large secondary structure of the human mitochondrial DNA control region

scientific article

Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data

scientific article

Evolutionary constraints in the β-globin cluster: the signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation

scientific article published on January 2013

Evolutionary dynamics of the human pseudoautosomal regions

scientific article published on 19 April 2021

Evolutionary history and functional diversification of phosphomannomutase genes

scientific article published on 27 July 2010

Exact likelihood ratio calculations for pairwise cases.

scientific article published on 27 April 2017

Exploring Sephardic lineages in São Tomé e Príncipe

Exploring the relationship between lifestyles, diets and genetic adaptations in humans

scientific article

Extended Northern Portuguese database on 21 autosomal STRs used in genetic identification

article

Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours

article

Extending STR markers in Y chromosome haplotypes.

scientific article

Extensive regulation of nicotinate phosphoribosyltransferase (NAPRT) expression in human tissues and tumors

scientific article published on 9 December 2015

FKS2 mutations associated with decreased echinocandin susceptibility of Candida glabrata following anidulafungin therapy

scientific article

Failed PCR amplifications of MBP-STR alleles due to polymorphism in the primer annealing region

scientific article

Familial dilated cardiomyopathy with troponin T K210del mutation.

scientific article

Feasibility of mitochondrial single nucleotide polymorphisms to detect and identify Aspergillus fumigatus in clinical samples

scientific article published on 19 May 2014

Female gene pools of Berber and Arab neighboring communities in central Tunisia: microstructure of mtDNA variation in North Africa

scientific article

Forensic analysis of dog (Canis lupus familiaris) mitochondrial DNA sequences: an inter-laboratory study of the GEP-ISFG working group

scientific article

Forensic considerations on STR databases in Argentina

article

Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10.

scientific article

Forensic genetics and genomics: Much more than just a human affair

scientific article published on 21 September 2017

Formal and population genetics of F13A and FUCA1 polymorphisms in northern Portugal

scientific article published in January 1990

Formal genetics of esterase D (EC 3.1.1.1): evidence for a sex-phenotype association

scientific article published on January 1988

Formal genetics of phosphoglycolate phosphatase (PGP): investigation on 272 mother-child pairs

scientific article

Formulation and communication of evaluative forensic science expert opinion-A GHEP-ISFG contribution to the establishment of standards

scientific article

Founding mothers of Chueta population

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

scientific article

GATA C4 allele 17 as a marker for sub-Saharan origin of Y-chromosome lineages

GEP-ISFG proficiency testing programs: 2007 update

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

scientific article

Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E. C. 2.6.1.2) locus to 8q24.2→8qter

article

General Derivation of the Sets of Pedigrees with the Same Kinship Coefficients

scientific article published on 19 August 2010

Genes from the TAS1R and TAS2R Families of Taste Receptors: Looking for Signatures of Their Adaptive Role in Human Evolution.

scientific article published on 4 April 2018

Genetic analysis of autosomal and Y-specific STRs in the Karimojong population from Uganda

scholarly article by Leonor Gusmão et al published April 2006 in International Congress Series

Genetic analysis of three US population groups using an X-chromosomal STR decaplex

scientific article published on 20 January 2007

Genetic and DNA-Based Techniques

Genetic characterization of 52 autosomal SNPs in the Portuguese population

article

Genetic characterization of 52 autosomal SNPs in two sub-Saharan African populations

Genetic characterization of Somali and Iraqi populations using a set of 33 X-chromosome Indels

article published in 2011

Genetic characterization of uniparental lineages in populations from Southwest Iberia with past malaria endemicity

scientific article

Genetic data of 10 X-STRs in a Spanish population sample

scientific article

Genetic diversity of 10 X chromosome STRs in northern Portugal

scientific article published on 6 January 2007

Genetic diversity of 38 insertion-deletion polymorphisms in Jewish populations

scientific article published on 10 November 2015

Genetic diversity of Aspergillus fumigatus in indoor hospital environments

scientific article published in September 2010

Genetic diversity of Geophagus brasiliensis from the South American Atlantic Rainforest

scholarly article by R.S. Azevedo et al published December 2017 in Forensic Science International: Genetics Supplement Series

Genetic diversity of Y-specific STRs in chimpanzees (Pan troglodytes).

scientific article published on May 2002

Genetic diversity of freshwater fishes from the South American Atlantic Rainforest: The case study of the genus Phalloceros

scholarly article by C.R.L. Amaral et al published December 2015 in Forensic Science International: Genetics Supplement Series

Genetic diversity of nine STRs in two northwest Iberian populations: Galicia and northern Portugal

scientific article published in January 2000

Genetic diversity within two Tunisian wild jirds: Meriones shawi and Meriones libycus (Rodentia, Gerbillinae)

scientific article published in 2017

Genetic patterns of 10 X chromosome short tandem repeats in an Asian population from Macau

article

Genetic polymorphism of human peptidase C, PEPC (E.C.3.4.1.1): formal genetic and population data

scientific article

Genetic polymorphism of δ-aminolaevulinic acid dehydratase (E.C. 4.2.1.24, ALAD) in the domestic rabbit

scientific article published on 01 January 1990

Genetic portrait of Brazilian immigrant population living in Lisboa.

scientific article published on 23 February 2012

Genetic portrait of Jewish populations based on three sets of X-chromosome markers: Indels, Alu insertions and STRs.

scientific article published on 18 September 2017

Genetic portrait of Lisboa immigrant population from Angola with mitochondrial DNA.

scientific article published on 28 September 2014

Genetic portrait of Lisboa immigrant population from Cabo Verde with mitochondrial DNA analysis

scientific article published on 01 September 2015

Genetic portrait of a native population of Cabo Verde living in Lisboa.

scientific article published on 7 June 2012

Genetic portrait of an immigrant population from Angola living in Lisboa

scientific article published on 12 June 2012

Genetic portrait of south Portugal population with InDel markers ⬇️

scientific article published on April 17, 2013

Genetic profile characterization and segregation analysis of 10 X-STRs in a sample from Santander, Colombia

scientific article published on 8 March 2008

Genetic profiles and sex identification of found-dead wolves determined by the use of an 11-loci PCR multiplex

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

scientific article

Genetic signatures of a Mediterranean influence in Iberian Peninsula sheep husbandry

scientific article published on 3 May 2006

Genetic variability of 16 Y-chromosome STRs in a sample from Equatorial Guinea (Central Africa).

scientific article published in April 2005

Genetic variability of 17 Y chromosome STRs in two Native American populations from Argentina

article

Genotyping inconsistencies and null alleles using AmpFLSTR® Identifiler® and Powerplex® 16 kits

article published in 2004

Grouping of Y-STR haplotypes discloses European geographic clines

scientific article published in July 2003

Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms

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

Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster

scientific article published in 2022

High prevalence of the GSTM3*A/B polymorphism in sub-Sarahan African populations

scientific article published on 11 June 2010

High-resolution analysis of Y-biallelic markers in three populations from São Tomé e Príncipe

High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium

scientific article

Highly polymorphic microsatellite for identification of Candida albicans strains

scientific article

Hot Topic: [Introduction to the Special Issue on Forensic Genetics: Non-Human DNA (Guest Editor: Dr. Antonio Amorim)]

article

How much more should the Y-STR Haplotype Reference Database increase to reach a pragmatic saturation level?

How useful is your X in discerning pedigrees?

Human Microevolution and the Atlantic Slave Trade

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

scientific article published on 10 April 2012

Human erythrocyte pyrimidine 5′-nucleotidase isozymes: Effect of sulfhydryl reagents and electrophoretic discrimination

scientific article published on 01 October 1993

Human fertility increases with marital radius

scientific article

Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring

article

Human phosphoglycolate phosphatase (PGP) E.C. 3.1.3.18: linkage analysis

scientific article published on January 1980

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

scientific article

Identification of mouse inbred strains through mitochondrial DNA single-nucleotide extension

Identification of mtDNA lineages of Sus scrofa by multiplex single base extension for the authentication of processed food products

scientific article

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

scientific article

Identification of species by multiplex analysis of variable-length sequences

scientific article (publication date: 4 October 2010)

Identification of species with DNA-based technology: current progress and challenges

scientific article published on January 2008

Identifying NUMT contamination in mtDNA analyses

article published in 2009

Improving publication quality and the importance of Post Publication Peer Review: The illustrating example of X chromosome analysis and calculation of forensic parameters

scientific article published on 10 November 2018

Improving the in silico assessment of pathogenicity for compensated variants.

scientific article published on 5 October 2016

In search of the pre- and post-neolithic genetic substrates in Iberia: evidence from Y-chromosome in Pyrenean populations

scientific article

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

scientific article

InDels in Y chromosome haplogroup definition

Inactivation status of PCDH11X: sexual dimorphisms in gene expression levels in brain

scientific article

Incidence of maple syrup urine disease in Portugal

scientific article published on 22 April 2010

Indel markers: genetic diversity of 38 polymorphisms in Brazilian populations and application in a paternity investigation with post mortem material

scientific article published on 23 January 2012

Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity

scientific article published on August 2001

Insertion/deletion polymorphisms: A multiplex assay and forensic applications

Insights from pattern of mtDNA variation into the genetic history of São Tomé e Prı́ncipe

Interleukin 1B and interleukin 1RN polymorphisms are associated with increased risk of gastric carcinoma

scientific article published on 01 October 2001

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

scientific article published on 29 November 2017

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

Is selection at mtDNA really a major concern?

Islands inside an island: reproductive isolates on Jerba island

scientific article

Key individuals for discerning pedigrees belonging to the same autosomal kinship class

scientific article published on 19 March 2017

Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

scientific article published in Nature Communications

Likelihood ratios in kinship analysis: contrasting kinship classes, not genealogies

scientific article

Linguistic isolates in Portugal: insights from the mitochondrial DNA pattern

scientific article

Linkage analyses of human peptidase C (PEPC), human factor H (HF), and coagulation factor XIIIB (F13B)

Linkage between HPRTB STR alleles and Lesch-Nyhan syndrome inside a family: Implications in forensic casework.

scientific article published on 12 October 2012

MUC1 gene polymorphism and gastric cancer--an epidemiological study.

scientific article published in January 1997

MUC1 gene polymorphism in the gastric carcinogenesis pathway.

scientific article published in July 2001

MUC6 gene polymorphism in healthy individuals and in gastric cancer patients from northern Portugal.

scientific article published in December 1997

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

scientific article

Making the most of Y-STR haplotypes: The HapYDive

Malaria: looking for selection signatures in the human PKLR gene region.

scientific article published on 4 April 2010

Male lineage strata of Brazilian population disclosed by the simultaneous analysis of STRs and SNPs

scientific article published on 8 September 2014

Male lineages in South American native groups: Evidence of M19 traveling south

scientific article (publication date: 8 August 2011)

Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination

scientific article

Methylenetetrahydrofolate reductase and methionine synthase polymorphisms and risk of bladder cancer in a Tunisian population

scientific article

Micro-phylogeographic and demographic history of Portuguese male lineages

scientific article (publication date: March 2006)

Microbial forensics: Do Aspergillus fumigatus strains present local or regional differentiation?

Microbial forensics: new breakthroughs and future prospects

article

Microgeographic substructure of NW Iberian Y chromosome STR haplotypes

Microgeographic substructure of Northern Portuguese mitochondrial DNA lineages: the female perspective of this region history

article

Microsatellite Variation and Evolutionary History of PCDHX/Y Gene Pair Within the Xq21.3/Yp11.2 Hominid-Specific Homology Block

article

Mirandese language and genetic differentiation in Iberia: a study using X chromosome markers

scientific article published on 13 August 2014

Mismatch distribution analysis of Y-STR haplotypes as a tool for the evaluation of identity-by-state proportions and significance of matches—the European picture

scientific article published on 01 December 2002

MitoBreak: the mitochondrial DNA breakpoints database

scientific article

Mitochondrial DNA deletions are associated with non-B DNA conformations

scientific article

Mitochondrial DNA haplotyping revealed the presence of mixed up benign and neoplastic tissue sections from two individuals on the same prostatic biopsy slide

scientific article published on January 2005

Mitochondrial DNA pseudogenes in the nuclear genome as possible sources of contamination

Mitochondrial DNA rearrangements in health and disease--a comprehensive study

scientific article published on 18 October 2013

Mitochondrial DNA variability in populations from East Timor (Timor Leste)

article published in 2006

Mitochondrial DNA-control region sequence variation in the NE Portuguese Jewish community

article

Mitochondrial Malic Enzyme in Human Leukocytes

Mitochondrial lineages reveal intense gene flow between Iberian wild boars and South Iberian pig breeds

scientific article published on 7 June 2011

Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade

scientific article

Mitochondrial portraits of the Madeira and Açores archipelagos witness different genetic pools of its settlers

scientific article (publication date: December 2003)

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes

scientific article

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

scientific article

Molecular characteristics of four human Y-specific microsatellites (DYS434, DYD437, DYS438, DYS439) for poulation and forensic studies

scientific article published in May 2001

Molecular characterization of maple syrup urine disease patients from Tunisia

scientific article published on 9 January 2013

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

article

Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe

scientific article

Mosaic maternal ancestry in the Great Lakes region of East Africa

scientific article

MtDNA diversity among four Portuguese autochthonous dog breeds: a fine-scale characterisation

scientific article

Multiplex STR genotyping: comparison study, population data and new sequence information

Mutation and mutation rates at Y chromosome specific Short Tandem Repeat Polymorphisms (STRs): a reappraisal.

scientific article published on 31 October 2013

Mutation rates at Y chromosome specific microsatellites

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

article

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala

scientific article

Mycobacterium tuberculosis associated with severe tuberculosis evades cytosolic surveillance systems and modulates IL-1β production

scientific article published on 23 April 2020

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

scientific article

New Method for the Simultaneous Identification of Cow, Sheep, Goat, and Water Buffalo in Dairy Products by Analysis of Short Species-Specific Mitochondrial DNA Targets

article

New insights into the phylogeny and worldwide dispersion of two closely related nematode species, Bursaphelenchus xylophilus and Bursaphelenchus mucronatus ⬇️

scientific article

New microsatellite multiplex PCR for Candida albicans strain typing reveals microevolutionary changes

scientific article published on August 2005

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

scientific article

Nilotes from Karamoja, Uganda: haplotype data defined by 17 Y-chromosome STRs

scientific article

Non-tuberculous mycobacteria in HIV-negative patients with pulmonary disease in Lisbon, Portugal.

scientific article published in August 2010

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

scientific article

On the structural plasticity of the human genome: chromosomal inversions revisited

scientific article

Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes

scientific article published on 01 May 2001

Opening the DNA black box: demythologizing forensic genetics

article

Optimisation of Y-STR multiplexing combining established and newly described loci

article by S Beleza et al published January 2003 in International Congress Series

Optimization of methods to assess mitochondrial DNA in archival paraffin-embedded tissues from mammary canine tumors

article by Angélica C. Bertagnolli et al published August 2008 in Jornal brasileiro de patologia e medicina laboratorial

Optimizing the information increase through the addition of relatives and genetic markers in identification and kinship cases

scientific article published on 21 February 2019

Origin and Spread of Goat Pastoralism

article

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

Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms

POP-Gene TIMOR: first forensic DNA marker study of East-Timor people

article

Paternity exclusion power: comparative behaviour of autosomal and X-chromosomal markers in standard and deficient cases with inbreeding.

scientific article published on 9 January 2013

Pattern of mtDNA variation in three populations from São Tomé e Príncipe

scientific article published in January 2004

Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism

scientific article published in January 2001

Patterns of pharmacogenetic diversity in African populations: role of ancient and recent history

scientific article published on September 2009

Peopling of the Azores Islands (Portugal): data from the Y chromosome

scientific article

Pharmacogenetic Polymorphisms in a Portuguese Gypsy Population

article

Pharmacogenetically relevant polymorphisms in Portugal

scientific article published in July 2007

Phylogeny of the mtDNA haplogroup U6. Analysis of the sequences observed in North Africa and Iberia

article

Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities

scientific article

Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade

scientific article (publication date: November 2001)

Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438.

scientific article published on 30 October 2002

Polymorphisms in one-carbon metabolism pathway genes and risk for bladder cancer in a Tunisian population

scientific article published on November 2009

Population and formal genetics of the STR system MBP — locus B — in North Portugal

article

Population and formal genetics of the STRs TPO, TH01 and VWFA31/A in North Portugal

article

Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil)

article

Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study

scientific article

Population assignment in seven Portuguese dog breeds and Iberian wolves

article

Population data defined by 15 autosomal STR loci in Karamoja population (Uganda) using AmpF/STR Identifiler kit.

scientific article

Population data for 16 Y-chromosome STRs in four populations from Pyrenees (Spain).

scientific article

Population data for Y-chromosome haplotypes defined by 17 STRs (AmpFlSTR YFiler) in Portugal

scientific article

Population data for six X-chromosome STR loci in a Rio de Janeiro (Brazil) sample: Usefulness in forensic casework

article

Population data on 15 autosomal STRs in a sample from East Timor

scientific article

Population genetics of Glutathione peroxidase (GPX1) in Central Portugal

article

Portuguese crypto-Jews: the genetic heritage of a complex history

scientific article

Portuguese mitochondrial DNA genetic diversity-An update and a phylogenetic revision

scientific article published on 14 October 2014

Post-last glacial maximum expansion from Iberia to North Africa revealed by fine characterization of mtDNA H haplogroup in Tunisia

scientific article

Pre-Columbian origins of Native American dog breeds, with only limited replacement by European dogs, confirmed by mtDNA analysis

scientific article published on 7 September 2013

Predicting sampling saturation of mtDNA haplotypes: an application to an enlarged Portuguese database

scientific article published on 11 February 2004

Prehistoric and historic traces in the mtDNA of Mozambique: insights into the Bantu expansions and the slave trade

scientific article published in September 2001

Probing the potential of the Shark Panel InDel multiplex v2.0 on the forensic identification of batoid elasmobranchs

Pros and cons in the use of SNPs in forensic kinship investigation: a comparative analysis with STRs

article

Proteomics facing the combinatorial problem

scientific article published in January 2010

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria

scientific article

Rapid identification of Aspergillus fumigatus within the section Fumigati

scientific article

Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure

scientific article published on 2 July 2015

Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism

scientific article

Recombination detection in Aspergillus fumigatus through single nucleotide polymorphisms typing.

scientific article published on 17 July 2015

Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective

scientific article

Refining the analysis of Y-chromosomal diversity in Alentejo (Portugal)

article

Refining the genetic portrait of Portuguese Roma through X-chromosomal markers

scientific article published on 11 May 2012

Relative Y-STR mutation rates estimated from the variance inside SNP defined lineages

article

RepeatAround: a software tool for finding and visualizing repeats in circular genomes and its application to a human mtDNA database

scientific article published on 14 June 2006

Reply to Sarre et al. “Defining specificity in DNA detection of wildlife”

Reply to letter from Felice L. Bedford and Doron Yacobi

scientific article published on 5 November 2014

Resolving the ancestry of Austronesian-speaking populations

scientific article published on 18 January 2016

Results of the GEP-ISFG collaborative study on an X-STR Decaplex

Results of the GEP-ISFG collaborative study on the Y chromosome STRs GATA A10, GATA C4, GATA H4, DYS437, DYS438, DYS439, DYS460 and DYS461: population data

scientific article

Results of the GEP-ISFG collaborative study on two Y-STRs tetraplexes: GEPY I (DYS461, GATA C4, DYS437 and DYS438) and GEPY II (DYS460, GATA A10, GATA H4 and DYS439)

scientific article published on 01 August 2003

Results of the GHEP-ISFG collaborative exercise for the taxonomic identification of forensic samples using the SPInDel method

Revealing the history of sheep domestication using retrovirus integrations

scientific article

Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.

scientific article

SIR: Deterministic protein inference from peptides assigned to MS data.

scientific article

SNaPAfu: a novel single nucleotide polymorphism multiplex assay for aspergillus fumigatus direct detection, identification and genotyping in clinical specimens

scientific article

SNaPaer: a practical single nucleotide polymorphism multiplex assay for genotyping of Pseudomonas aeruginosa

scientific article

SPInDel: a multifunctional workbench for species identification using insertion/deletion variants

scientific article

STR allelic frequencies for an African population sample (Equatorial Guinea) using AmpFlSTR Identifiler and Powerplex 16 kits.

scientific article published in March 2005

STR data (AmpFlSTR Profiler Plus and GenePrint CTTv) from Mozambique

scientific article

STR data (AmpFlSTR profiler plus) from north Portugal

scientific article

STR data (CD4, CSF1PO, F13A01, FES/FPS, MBPB, TH01, TPOX) from North Portugal ⬇️

scientific article published on November 15, 2001

STR data for the AmpFlSTR profiler plus loci from Macau (China).

scientific article

STR data from S. Tomé e Príncipe (Gulf of Guinea, West Africa).

scientific article

Sampling efficiency for Amerindian female lineages

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis

scientific article published on 01 January 2000

Segregation analysis of tetra- and pentanucleotide short tandem repeat polymorphisms: Deviation from Mendelian expectations

article

Separation of human alloalbumain variants by isoelectric focusing

Sequence Comparison Alignment-Free Approach Based on Suffix Tree andL-WordsFrequency ⬇️

scientific article published on September 10, 2012

Sequence variation at three X chromosomal short tandem repeats in Caucasian and African populations

Sequencing CYP2D6 for the detection of poor-metabolizers in post-mortem blood samples with tramadol.

scientific article

Simple and highly discriminatory microsatellite-based multiplex PCR for Aspergillus fumigatus strain typing

scientific article

Single-tube PCR coupled with mini-sequencing assay for the detection of cyp51A and cyp51B polymorphisms in Aspergillus fumigatus

scientific article published on 30 October 2015

Spanish population data and forensic usefulness of a novel Y-STR set (DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4, GATA H4).

scientific article

Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula.

scientific article published on 24 May 2019

Species identification in forensic samples using the SPInDel approach: A GHEP-ISFG inter-laboratory collaborative exercise

scientific article published on 7 March 2017

Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma.

scientific article

Specific staining of glycineN-methyltransferase

scientific article published on 01 October 1995

Specificity of mtDNA-directed PCR—influence of NUclear MTDNA insertion (NUMT) contamination in routine samples and techniques

scientific article published on 14 September 2007

Standardisation of nomenclature for dog mtDNA D-loop: a prerequisite for launching a Canis familiaris database.

scientific article

Starfish acrosomal acid phosphatase: a cytochemical and biochemical study

scientific article published on January 1988

Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing.

scientific article

Study of 25 X-chromosome SNPs in the Portuguese

article

Study of 25 X-chromosome Single Nucleotide Polymorphisms in African and Asian populations

article

Study of InDel genetic markers with forensic and ancestry informative interest in PALOP's immigrant populations in Lisboa.

scientific article published on 29 October 2016

Study of genetic markers of CODIS and ESS systems in a population of individuals from Cabo Verde living in Lisboa.

scientific article published on 3 August 2016

Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci

scientific article

Subdividing mtDNA haplogroup H based on coding-region polymorphisms—a study in Iberia

article published in 2004

Substructure of a Tunisian Berber population as inferred from 15 autosomal short tandem repeat loci

scientific article published on August 2008

Subtyping of alkylated human orosomucoid: Evidence for a duplicated gene, ORM1*F2S

article

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

scientific article published on 30 July 2011

Testing for genetic structure in different urban Argentinian populations

scientific article

Tetra- and pentanucleotide short tandem repeat instability in gastric cancer

scientific article published in August 1997

The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations

scientific article

The Amelogenin locus displays a high frequency of X homologue failures in São Tomé Island (West Africa)

The Eastern side of the Westernmost Europeans: Insights from subclades within Y-chromosome haplogroup J-M304.

scientific article published on 29 November 2017

The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal

scientific article published in August 2002

The Islamization of Iberian Peninsula: A demographic shift or a cultural change? Search for an answer using extant and ancient DNA from Mértola (Southeast Portugal)

article

The Karimojong from Uganda: genetic characterization using an X-STR decaplex system

scientific article published on 19 December 2008

The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal

scientific article published in August 2005

The STR system hTPO: population and segregation data

scientific article published on January 1995

The amplification of the mitochondrial genome of the endangered buffy-tufted-ear marmoset Callithrix aurita (Primates: Cebidae) for massive parallel sequencing using the HiSeq 2500 platform

The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal

scientific article published on 25 March 2008

The evolutionary portrait of metazoan NAD salvage

scientific article

The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88.

scientific article published on 15 August 2012

The genetic legacy of western Bantu migrations

scientific article

The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis

scientific article

The impact of silent alleles in kinship probability calculations

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event ⬇️

scientific article

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

scientific article

The mitogenomic phylogeny of the Elasmobranchii (Chondrichthyes).

scientific article

The mtDNA catalogue of all Portuguese autochthonous goat (Capra hircus) breeds: high diversity of female lineages at the western fringe of European distribution

scientific article published on July 2005

The mutational spectrum of WT1 in male infertility.

scientific article published on 11 November 2014

The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers

scientific article

The risks of using "species-specific" PCR assays in wildlife research: The case of red fox (Vulpes vulpes) identification in Tasmania

scientific article published on 28 March 2014

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

scientific article

The shark panel: An InDel multiplex for shark species identification

Theory and statistics of mutation rates: A mathematical framework reformulation for forensic applications

Thiopurine methyltransferase pharmacogenetics: alternative molecular diagnosis and preliminary data from Northern Portugal

scientific article

Tracing the history of goat pastoralism: new clues from mitochondrial and Y chromosome DNA in North Africa.

scientific article published on 3 September 2009

Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.

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 changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome

scientific article

Transcriptional profiling of azole-resistant Candida parapsilosis strains

scientific article published on 25 April 2011

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

scientific article

Tri-allelic pattern at the TPOX locus: a familial study

scientific article published on 18 October 2013

Tuna fish identification using mtDNA markers

Twenty Years Later: A Comprehensive Review of the X Chromosome Use in Forensic Genetics

scientific article published on 17 September 2020

Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30.

scientific article

Unpredictable susceptibility of emerging clinical moulds to tri-azoles: review of the literature and upcoming challenges for mould identification

scientific article published on 18 April 2015

Unusual β-Globin Haplotype Distribution in Newborns from Bengo, Angola

scientific article published on 01 May 2019

Usefulness of microchip electrophoresis for the analysis of mitochondrial DNA in forensic and ancient DNA studies

scientific article published on December 2006

VKORC1 polymorphisms in Brazilians: comparison with the Portuguese and Portuguese-speaking Africans and pharmacogenetic implications

scientific article published on September 2010

VWA STR genotyping: further inconsistencies between Perkin-Elmer and Promega kits ⬇️

scientific article published on October 1, 2001

Variation in STR loci of the human myelin basic protein gene: north Portugal and São Tomé e Príncipe.

scientific article published in June 2000

Virtual expert mass spectrometrist: iTRAQ tool for database-dependent search, quantitation and result storage.

scientific article

When the alleged father is a close relative of the real father: The utility of insertion/deletion polymorphisms

X-chromosome STR markers data in a Cabo Verde immigrant population of Lisboa.

scientific article

X-chromosome STR sequence variation, repeat structure, and nomenclature in humans and chimpanzees

scientific article published on 12 December 2008

X-chromosome markers in kinship testing: A generalisation of the IBD approach identifying situations where their contribution is crucial

scientific article published on 18 February 2010

Y chromosome STR haplotypes in the Caribbean city of Cartagena (Colombia)

scientific article (publication date: March 2007)

Y chromosome diversity in a linguistic isolate (Mirandese, NE Portugal).

scientific article

Y chromosome haplotypes in the Madeira archipelago population

Y chromosome microsatellite genetic variation in two Native American populations from Argentina: Population stratification and mutation data

scientific article (publication date: September 2008)

Y-STR haplotype diversity in distinct linguistic groups from East Timor.

scientific article published in September 2006

Y-STR polymorphisms from Basque-speaking region of Cinco Villas (Navarra) in the context of the Pyrenean genetic landscape

Y-chromosomal STR haplotypes in a Gypsy population from Portugal

article

Y-chromosomal STR haplotypes in three ethnic groups and one cosmopolitan population from Tunisia

scientific article (publication date: August 2005)

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language

scientific article

Y-chromosome STR defined haplotypes in North Portugal

article

Y-chromosome STR haplotypes in East Timor: forensic evaluation and population data.

scientific article published in January 2006

Y-chromosome STR haplotypes in the Madeira archipelago population

scientific article published on 01 November 2001

Y-chromosome STRs in an Antioquian (Colombia) population sample

scientific article (publication date: December 2006)

Y-chromosome genetic variation in Rio de Janeiro population

scientific article

Y-chromosome haplotypes in East Timor (Timor-Leste): Evidences of population differentiation

Y-chromosome short tandem repeat polymorphisms: a comparison between humans and chimpanzees

Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor

scientific article published on 12 June 2019

mtDNA lineages in two Tunisian Berber communities: Comparing diversities between villages and towns

scholarly article by S. Frigi et al published April 2006 in International Congress Series

mtDNA phylogeny and evolution of laboratory mouse strains

scientific article

mtDNA single macrodeletions associated with myopathies: Absence of haplogroup-related increased risk

mtDNAoffice: A software to assign human mtDNA macro haplogroups through automated analysis of the protein coding region ⬇️

scientific article published on August 18, 2012

Paulina is supported by:

About Paulina

Help