List of works - Maria João Prata

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 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 shortcut to the lysosome: the mannose-6-phosphate-independent pathway.

scientific article published on 20 July 2012

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

scientific article published on 20 October 2011

Analysis of 10 X-STRs in three African populations

scientific article published on 6 March 2007

Analysis of Y-chromosome variability and its comparison with mtDNA variability reveals different demographic histories between islands in the Azores Archipelago (Portugal).

scientific article

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

article

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

scientific article published on 03 June 2021

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

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

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

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

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

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

scientific article

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

scientific article

Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia.

scientific article published in June 2006

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

scientific article published on 25 September 2015

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

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

scientific article

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

scientific article

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

Incidence of maple syrup urine disease in Portugal

scientific article published on 22 April 2010

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

Linguistic isolates in Portugal: insights from the mitochondrial DNA pattern

scientific article

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach

scientific article published on 10 August 2020

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients

article

Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction

scientific article published on 23 December 2011

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

scientific 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

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

scientific article

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity

scientific article published on 21 January 2020

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

scientific article published on 23 January 2008

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

scientific article published in July 2009

Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking

article

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

scientific article

Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene

scientific article published on 2 June 2008

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

scientific article published on 25 October 2006

Molecular characterization of maple syrup urine disease patients from Tunisia

scientific article published on 9 January 2013

Mosaic maternal ancestry in the Great Lakes region of East Africa

scientific article

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

scientific article

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

scientific article

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

scientific article published on 29 September 2010

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

scientific article published in January 2004

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

scientific article published on September 2009

Pharmacogenetically relevant polymorphisms in Portugal

scientific article published in July 2007

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

scientific article published on November 2009

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

scientific article

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

scientific article published on 14 October 2014

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

scientific article published on 28 March 2014

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

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

scientific article

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

scientific article

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

scientific article published on 01 January 2000

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

scientific article published in October 2016

Sortilin and the risk of cardiovascular disease

scientific article published on 31 July 2013

Study of 25 X-chromosome SNPs in the Portuguese

article

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

article

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

scientific article published in August 2002

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 Orientalisation of North Africa: New hints from the study of autosomal STRs in an Arab population

scientific article

The STR system hTPO: population and segregation data

scientific article published on January 1995

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

scientific article

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

scientific article published on 10 December 2014

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

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

scientific article published on 01 May 2019

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

scientific article published on September 2010

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

scientific article

Y-chromosomal STR haplotypes in a Gypsy population from Portugal

article

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

scientific article

List of works by Maria João Prata

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

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

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

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

A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

Analysis of 10 X-STRs in three African populations

Analysis of Y-chromosome variability and its comparison with mtDNA variability reveals different demographic histories between islands in the Azores Archipelago (Portugal).

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

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

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

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

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

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

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

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

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

Evolutionary dynamics of the human pseudoautosomal regions

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

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

Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia.

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

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

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

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

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

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

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

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

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

Incidence of maple syrup urine disease in Portugal

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

Linguistic isolates in Portugal: insights from the mitochondrial DNA pattern

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients

Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction

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

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

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

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

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking

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

Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

Molecular characterization of maple syrup urine disease patients from Tunisia

Mosaic maternal ancestry in the Great Lakes region of East Africa

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

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

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

Pharmacogenetically relevant polymorphisms in Portugal

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

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

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

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

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

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

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

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

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

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

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

Sortilin and the risk of cardiovascular disease

Study of 25 X-chromosome SNPs in the Portuguese

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

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

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

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

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

The Orientalisation of North Africa: New hints from the study of autosomal STRs in an Arab population

The STR system hTPO: population and segregation data

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

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

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

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