Manuela Lima
Biographic Data
| ID | 4089984 |
|---|---|
| NAME | Manuela Lima |
| GIVEN NAMES | Manuela |
| FAMILY NAME | Lima |
| SIGNATURE | LIMA M |
| AFFILIATIONS | Universidade dos Açores |
| ORCID | 0000-0002-3357-3273 |
| VERIFIED | Yes |
| TOTAL WORKS | 12 |
| TOTAL CITATIONS | 17 |
| AUTHOR COUNT | 12 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 2001 |
| LATEST PUBLICATION YEAR | 2022 |
| H-INDEX | 3 |
Short Communication: Restrictions in care following the Covid-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
Cross-sectional study of risk factors for atherosclerosis in the Azorean population
One has to consider the possibility of an important non-genetic influence on the high cholesterolemia present in the Azorean population. Since diet is the most important life-style risk factor for dyslipidemia, studies aiming to evaluate the dietary characteristics of this population and its impact on serum lipid levels will be of major importance
Genetic profiling of the Azores Islands (Portugal): Data from 10 X‐chromosome STRs
The populations from the Azores islands have been the target of several genetic studies, using data derived from monoparental and recombining genetic systems. These studies have provided a complex picture of the genetic landscape of the three groups of Azorean islands, and further data are required to assess its genetic profile. We present a study of the polymorphism in 10 X‐chromosome STR loci (DSXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, …
Mitochondrial DNA patterns in the Macaronesia islands: Variation within and among archipelagos
Macaronesia covers four Atlantic archipelagos: the Azores, Madeira, the Canary Islands, and the Cape Verde islands. When discovered by Europeans in the 15th century, only the Canaries were inhabited. Historical reports highlight the impact of Iberians on settlement in Macaronesia. Although important differences in their settlement are documented, its influence on their genetic structures and relationships has yet to be ascertained. In this study,…
Testing Hierarchical Levels of Population Sub-Structuring: The Azores Islands (Portugal) as a Case Study
The Azores archipelago (Portugal) is formed by nine islands whose relative positions define them as three geographical groups: Eastern (S. Miguel and Sta. Maria), Central (Terceira, Faial, Pico, Graciosa and S. Jorge) and Western (Flores and Corvo). Using the father’s surname of 187,398 individuals living on the nine Azorean Islands, a population analysis based on inter-island relationship and hierarchical organization was conducted. The relation…
The African contribution to the present‐day population of the Azores Islands (Portugal): Analysis of the Y chromosome haplogroup E
Among the settlers that, from 1432 onwards, arrived to the Azores Islands were individuals of North and sub‐Saharan African origin. A previous study of markers of the Y chromosome revealed that haplogroup E is the second more frequent in the Azores (13%). Since this haplogroup is heterogeneous and may contain subtypes of African or non‐African origin, we analyzed an extended sample of 319 Azoreans, originating from the three groups of islands (Ea…
Histeria, trauma e sedução: "O que lhe fizeram pobre criança" (um Freud covarde)
As acusações de Masson contra Freud, por ter abandonado a teoria da sedução, inauguraram uma polêmica em torno da validade dessa teoria na explica ção da histeria e em torno da própria psicanálise. Seguidores propõem a volta dessa teoria, denunciando o abuso infantil, e acusam Freud de covarde e ambicioso. Já os opositores vêem nesse suposto abandono não o descaso com a inf ância, mas a possibilidade do desenvolvimento da psicanálise. Analisamos …
Genetic Structure of Flores Island (Azores, Portugal) in the 19th Century and in the Present Day: Evidence from Surname Analysis
The island of Flores is the most westerly of the Azores archipelago (Portugal). Despite its marked geographic isolation and reduced population size, biodemographic and genetic studies conducted so far do not support the idea that its population constitutes a genetic isolate. In this study we conducted a surname analysis of the Flores population for two time periods: the second half of the 19th century and the present day. Our main purposes were (…
Peopling of the Azore Islands (Portugal): Data from the Y Chromosome
Nine Atlantic islands with approximately five and a half centuries of demographic history constitute the Portuguese archipelago of the Azores. Despite the recent peopling history of these islands, written records regarding the specific origin and relative proportions of the first settlers are scarce and incomplete. To gain insights into the history of the peopling of the Azores and to evaluate to what extent population imports described in histor…
Population genetics of 5 STR loci (CD4, TPO, VWA, F13A1 and MBPB) in S. Miguel Island (Azores, Portugal)
A study of five Short Tandem Repeat (STR) loci was undertaken using samples of unrelated individuals with Azorean ancestry, born in the island of S. Miguel. Markers were analysed by PCR, followed by PAGE (CD4, TPO and VWA) or using a Genetic Analyser (F13A1 and MBPB). The results obtained revealed that two of the markers studied (VWA and MBPB) were not in agreement with the Hardy-Weinberg expectations. Population differentiation tests demonstrate…
Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach
In this paper we propose a hierarchical approach that allows the screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West Eurasian mtDNA backgrounds but that could have some non-West Eurasian contributions. To develop and validate this scheme, we used data on 18 coding region polymorphisms (17 analyzed by RFLP analysis and 1 by sequencing) and sequences of hypervariable segment I (HVSI) of the mtDNA control reg…
Natural Selection at the MJD Locus: Phenotypic Diversity, Survival and Fertility Among Machado-Joseph Disease Patients From the Azores
Machado-Joseph Disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset, associated with the expansion of a (CAG)n tract in the coding region of the causative gene, localized on 14q32.1. Machado-Joseph Disease shows non-Mendelian features typical of other triplet repeat disorders, including clinical heterogeneity, variable age at onset and anticipation. Three phenotypes have been proposed (clinical types 1, 2 and 3). Type …
Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach
In this paper we propose a hierarchical approach that allows the screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West Eurasian mtDNA backgrounds but that could have some non-West Eurasian contributions. To develop and validate this scheme, we used data on 18 coding region polymorphisms (17 analyzed by RFLP analysis and 1 by sequencing) and sequences of hypervariable segment I (HVSI) of the mtDNA control reg…
Genetic Structure of Flores Island (Azores, Portugal) in the 19th Century and in the Present Day: Evidence from Surname Analysis
The island of Flores is the most westerly of the Azores archipelago (Portugal). Despite its marked geographic isolation and reduced population size, biodemographic and genetic studies conducted so far do not support the idea that its population constitutes a genetic isolate. In this study we conducted a surname analysis of the Flores population for two time periods: the second half of the 19th century and the present day. Our main purposes were (…
Peopling of the Azore Islands (Portugal): Data from the Y Chromosome
Nine Atlantic islands with approximately five and a half centuries of demographic history constitute the Portuguese archipelago of the Azores. Despite the recent peopling history of these islands, written records regarding the specific origin and relative proportions of the first settlers are scarce and incomplete. To gain insights into the history of the peopling of the Azores and to evaluate to what extent population imports described in histor…
Mitochondrial DNA patterns in the Macaronesia islands: Variation within and among archipelagos
Macaronesia covers four Atlantic archipelagos: the Azores, Madeira, the Canary Islands, and the Cape Verde islands. When discovered by Europeans in the 15th century, only the Canaries were inhabited. Historical reports highlight the impact of Iberians on settlement in Macaronesia. Although important differences in their settlement are documented, its influence on their genetic structures and relationships has yet to be ascertained. In this study,…
Natural Selection at the MJD Locus: Phenotypic Diversity, Survival and Fertility Among Machado-Joseph Disease Patients From the Azores
Machado-Joseph Disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset, associated with the expansion of a (CAG)n tract in the coding region of the causative gene, localized on 14q32.1. Machado-Joseph Disease shows non-Mendelian features typical of other triplet repeat disorders, including clinical heterogeneity, variable age at onset and anticipation. Three phenotypes have been proposed (clinical types 1, 2 and 3). Type …
Population genetics of 5 STR loci (CD4, TPO, VWA, F13A1 and MBPB) in S. Miguel Island (Azores, Portugal)
A study of five Short Tandem Repeat (STR) loci was undertaken using samples of unrelated individuals with Azorean ancestry, born in the island of S. Miguel. Markers were analysed by PCR, followed by PAGE (CD4, TPO and VWA) or using a Genetic Analyser (F13A1 and MBPB). The results obtained revealed that two of the markers studied (VWA and MBPB) were not in agreement with the Hardy-Weinberg expectations. Population differentiation tests demonstrate…
Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach
In this paper we propose a hierarchical approach that allows the screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West Eurasian mtDNA backgrounds but that could have some non-West Eurasian contributions. To develop and validate this scheme, we used data on 18 coding region polymorphisms (17 analyzed by RFLP analysis and 1 by sequencing) and sequences of hypervariable segment I (HVSI) of the mtDNA control reg…
Genetic Structure of Flores Island (Azores, Portugal) in the 19th Century and in the Present Day: Evidence from Surname Analysis
The island of Flores is the most westerly of the Azores archipelago (Portugal). Despite its marked geographic isolation and reduced population size, biodemographic and genetic studies conducted so far do not support the idea that its population constitutes a genetic isolate. In this study we conducted a surname analysis of the Flores population for two time periods: the second half of the 19th century and the present day. Our main purposes were (…
Peopling of the Azore Islands (Portugal): Data from the Y Chromosome
Nine Atlantic islands with approximately five and a half centuries of demographic history constitute the Portuguese archipelago of the Azores. Despite the recent peopling history of these islands, written records regarding the specific origin and relative proportions of the first settlers are scarce and incomplete. To gain insights into the history of the peopling of the Azores and to evaluate to what extent population imports described in histor…
The African contribution to the present‐day population of the Azores Islands (Portugal): Analysis of the Y chromosome haplogroup E
Among the settlers that, from 1432 onwards, arrived to the Azores Islands were individuals of North and sub‐Saharan African origin. A previous study of markers of the Y chromosome revealed that haplogroup E is the second more frequent in the Azores (13%). Since this haplogroup is heterogeneous and may contain subtypes of African or non‐African origin, we analyzed an extended sample of 319 Azoreans, originating from the three groups of islands (Ea…
Histeria, trauma e sedução: "O que lhe fizeram pobre criança" (um Freud covarde)
As acusações de Masson contra Freud, por ter abandonado a teoria da sedução, inauguraram uma polêmica em torno da validade dessa teoria na explica ção da histeria e em torno da própria psicanálise. Seguidores propõem a volta dessa teoria, denunciando o abuso infantil, e acusam Freud de covarde e ambicioso. Já os opositores vêem nesse suposto abandono não o descaso com a inf ância, mas a possibilidade do desenvolvimento da psicanálise. Analisamos …
Testing Hierarchical Levels of Population Sub-Structuring: The Azores Islands (Portugal) as a Case Study
The Azores archipelago (Portugal) is formed by nine islands whose relative positions define them as three geographical groups: Eastern (S. Miguel and Sta. Maria), Central (Terceira, Faial, Pico, Graciosa and S. Jorge) and Western (Flores and Corvo). Using the father’s surname of 187,398 individuals living on the nine Azorean Islands, a population analysis based on inter-island relationship and hierarchical organization was conducted. The relation…
Genetic profiling of the Azores Islands (Portugal): Data from 10 X‐chromosome STRs
The populations from the Azores islands have been the target of several genetic studies, using data derived from monoparental and recombining genetic systems. These studies have provided a complex picture of the genetic landscape of the three groups of Azorean islands, and further data are required to assess its genetic profile. We present a study of the polymorphism in 10 X‐chromosome STR loci (DSXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, …
Mitochondrial DNA patterns in the Macaronesia islands: Variation within and among archipelagos
Macaronesia covers four Atlantic archipelagos: the Azores, Madeira, the Canary Islands, and the Cape Verde islands. When discovered by Europeans in the 15th century, only the Canaries were inhabited. Historical reports highlight the impact of Iberians on settlement in Macaronesia. Although important differences in their settlement are documented, its influence on their genetic structures and relationships has yet to be ascertained. In this study,…
Cross-sectional study of risk factors for atherosclerosis in the Azorean population
One has to consider the possibility of an important non-genetic influence on the high cholesterolemia present in the Azorean population. Since diet is the most important life-style risk factor for dyslipidemia, studies aiming to evaluate the dietary characteristics of this population and its impact on serum lipid levels will be of major importance
Short Communication: Restrictions in care following the Covid-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
Population (10 works) · Biology (9 works) · Demography (8 works) · Forensic and Genetic Research (8 works) · Haplotype (7 works) · Genetic diversity and population structure (6 works) · Genetics (6 works) · Geography (6 works) · Haplogroup (6 works) · Allele (5 works)