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The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods
Genome-wide imputation of a large dataset of ancient samples enabled sensitive methods for detecting population structure and selection in ancient samples and revealed subtle genetic differentiation between the Portuguese Neolithic and Bronze Age samples suggesting a markedly reduced influx in Iberia compared to other European regions.
Assessment of obesity and abdominal obesity among Portuguese children.
- David Albuquerque, C. Nóbrega, H. Samouda, L. Manco
- Medicine, BiologyActa medica portuguesa
- 23 July 2012
This study shows a very high prevalence of overweight/obesity and abdominal obesity among Portuguese children, following the trend of other southern European countries.
Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities.
- I. Nogueiro, L. Manco, V. Gomes, A. Amorim, L. Gusmão
- BiologyAmerican journal of physical anthropology
- 1 March 2010
The genetic composition of the Portuguese Jewish communities from Trás-os-Montes is examined, with a high-resolution Y-chromosome typing strategy, to clarify how these communities avoided the expected inbreeding caused by over four centuries of religious repression.
The contribution of genetics and environment to obesity
- David Albuquerque, C. Nóbrega, L. Manco, C. Padez
- Biology, MedicineBritish medical bulletin
- 1 September 2017
This work states that the integration of multi-omics data enables scientists having a better picture and to elucidate unknown pathways contributing to obesity and will lead to an improvement of understanding about underlying mechanisms involved in development and origin of the actual obesity epidemic.
Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
- L. Manco, P. Gonçalves, P. Antunes, F. Maduro, A. Abade, M. Ribeiro
- 1 December 2007
Age estimates based on microsatellite variation suggest that Betica mutation arose 900 generations ago.
The lactase −13910C>T polymorphism (rs4988235) is associated with overweight/obesity and obesity-related variables in a population sample of Portuguese young adults
In the Portuguese sample of young adults, the lactase −13910C>T polymorphism revealed significant associations with the obesity-related anthropometric variables BMI, fat mass and weight, and previously observed associations withThe obesity risk were confirmed.
A new PKLR gene mutation in the R‐type promoter region affects the gene transcription causing pyruvate kinase deficiency
A novel point mutation A→G on nucleotide 72, upstream from the initiation codon of the PKLR gene, in four Portuguese PK‐deficient patients is reported, causing severe haemolytic anaemia in two patients who were homozygous for the −72A→G mutation.
Age Estimation Based on DNA Methylation Using Blood Samples From Deceased Individuals
- Helena Correia Dias, C. Cordeiro, F. Corte Real, E. Cunha, L. Manco
- BiologyJournal of forensic sciences
- 1 March 2020
The developed age predictor model (APM) for blood samples of deceased individuals based in five age‐correlated genes seems to be informative and could have potential application in forensic analysis.
Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.
Novel Variants in the MC4R and LEPR Genes among Severely Obese Children from the Iberian Population
We screened for mutations in the MC4R and LEPR genes and investigated the genotype‐phenotype correlation in obese individuals belonging to families with evident hereditary patterns of severe and…