Lista de obras - Maria João Prata - Dominio Público Uruguay

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Analysis of 10 X-STRs in three African populations

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 1999

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

Evolutionary dynamics of the human pseudoautosomal regions

artículo científico publicado en 2021

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

artículo científico publicado en 2015

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

artículo científico publicado en 1996

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 1989

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

artículo científico publicado en 2010

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

artículo científico publicado en 2022

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

artículo científico publicado en 2010

Incidence of maple syrup urine disease in Portugal

artículo científico publicado en 2010

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

artículo científico publicado en 2001

Linguistic isolates in Portugal: insights from the mitochondrial DNA pattern

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

Molecular characterization of maple syrup urine disease patients from Tunisia

artículo científico publicado en 2013

Mosaic maternal ancestry in the Great Lakes region of East Africa

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Pharmacogenetically relevant polymorphisms in Portugal

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

article

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2001

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

artículo científico publicado en 2000

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

artículo científico publicado en 2016

Sortilin and the risk of cardiovascular disease

artículo científico

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.

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

The STR system hTPO: population and segregation data

artículo científico publicado en 1995

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2000

Lista de obras de 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