Search Results - "ABADE, AUGUSTO"

Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles by Manco, Licinio, Goncalves, Paula, Antunes, Patricia, Maduro, Filomena, Abade, Augusto, Ribeiro, M. Leticia

“…* Departamento de Hematologia, Centro Hospitalar de Coimbra, Portugal; ° Departamento de Antropologia, Universidade de Coimbra, Portugal; # Serviço de…”
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A new PKLR gene mutation in the R‐type promoter region affects the gene transcription causing pyruvate kinase deficiency by Manco, Licínio, Ribeiro, M. Letícia, Máximo, Valdemar, Almeida, Helena, Costa, Alice, Freitas, Orquídea, Barbot, José, Abade, Augusto, Tamagnini, Gabriel

“…Mutations in the PKLR gene responsible for pyruvate kinase (PK)‐deficient anaemia are mainly located in the coding regions: 11 are in the splicing sites and,…”
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Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach by Santos, Cristina, Montiel, Rafael, Angles, Natalia, Lima, Manuela, Francalacci, Paolo, Malgosa, Assumpcio, Abade, Augusto, Aluja, M. Pilar

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Polymorphic variations influencing fetal hemoglobin levels: Association study in beta-thalassemia carriers and in normal individuals of Portuguese origin by Pereira, Clara, Relvas, Luís, Bento, Celeste, Abade, Augusto, Ribeiro, M. Letícia, Manco, Licínio

“…Three major loci have been associated with HbF levels, including −158C/T (XmnI) at HBG2 promoter region, and several polymorphisms at BCL11A intron-2 and…”
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Numerical analysis of glued laminated timber beams reinforced by Vectran fibers by Mascia, Nilson Tadeu, Bertoline, Carlos Augusto Abade, Baságlia, Cilmar Donizeti, Donadon, Bruno Fazendeiro

“…Abstract Some factors, such as environmental actions and load increases, can cause a necessity to restore a structural element. An efficient method typically…”
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Y-chromosome diversity in central Portugal reveals signatures of ancient maritime expansions by Martiniano, Rui, Feitosa, Yara, Abade, Augusto, Manco, Licínio

“…The genetic diversity of human populations in Portugal results from several different demographic events that occurred in distinct prehistorical and historical…”
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Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal) by Santos, Cristina, Montiel, Rafael, Sierra, Blanca, Bettencourt, Conceição, Fernandez, Elisabet, Alvarez, Luis, Lima, Manuela, Abade, Augusto, Aluja, M Pilar

“…We analyzed the control region of the mitochondrial DNA (mtDNA) from maternally related individuals originating from the Azores Islands (Portugal) in order to…”
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Distribution of the − 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption by Manco, Licínio, Pires, Sara, Lopes, Ana Isabel, Figueiredo, Ima, Albuquerque, David, Alvarez, Manuela, Rocha, Jorge, Abade, Augusto

“…Background: The − 13910C>T polymorphism has been associated with lactase persistence (LP) in European populations. Aim: To assess − 13910C>T genotypes across…”
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Testing hierarchical levels of population sub-structuring: the Azores islands (Portugal) as a case study by Santos, Cristina, Abade, Augusto, Lima, Manuela

“…The Azores archipelago (Portugal) is formed by nine islands whose relative positions define them as three geographical groups: Eastern (S. Miguel and Sta…”
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Intragenic haplotype analysis of common HFE mutations in the Portuguese population by TOSTE, SANDRA, RELVAS, LUÍS, PINTO, CATARINA, BENTO, CELESTE, ABADE, AUGUSTO, RIBEIRO, M. LETÍCIA, MANCO, LICÍNIO

“…Most individuals with hereditary haemochromatosis are homozygous for the HFE gene mutation p.C282Y, and mutations p.H63D and p.S65C are associated with a mild…”
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G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa) by Manco, Licínio, Botigué, Laura R., Ribeiro, M. Letícia, Abade, Augusto

“…A population sample from São Tomé e Príncipe (West Africa) was screened for the G6PD-deficient variants A– (376G/202A), Betica (376G/968C), and Santa Maria…”
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PAISAGEM HUMANIZADA: REFERENCIAIS CIENTÍFICOS PARA GESTÃO DE CIDADES (PÓS-)PANDÊMICAS by Oliveira, Luiza Alves de, Hardt, Letícia Peret Antunes, Hardt, Carlos, Abade, Victor Augusto Bosquilia

“…Diante da problemática pertinente às lacunas tanto de conhecimento sobre relações entre meio construído e contaminação viral, como de diretrizes para…”
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Determination of Human Caucasian Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach by SANTOS, CRISTINA, MONTIEL, RAFAEL, ANGLÉS, NATÀLIA, LIMA, MANUELA, FRANCALACCI, PAOLO, MALGOSA, ASSUMPCIÓ, ABADE, AUGUSTO, ALUJA, M. PILAR

“…In this paper we propose a hierarchical approach that allows the screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West…”
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Peopling, demographic history and genetic structure of the Azores Islands: Integrating data from mtDNA and Y-chromosome by Santos, Cristina, Montiel, Rafael, Bettencourt, Conceição, Prata, M. João, Abade, Augusto, Aluja, M. Pilar, Lima, Manuela

“…We have conducted studies to assess the variability of mtDNA and Y-chromosome markers in the Azores Islands (Portugal) and found that, for both genetic…”
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PK‐LR gene mutations in pyruvate kinase deficient Portuguese patients by Manco, Licínio, Ribeiro, M. Letícia, Almeida, Helena, Freitas, Orquídea, Abade, Augusto, Tamagnini, Gabriel

“…In nine unrelated Portuguese patients with pyruvate kinase (PK) deficient anaemia, whose symptoms ranged from a mild chronic haemolytic anaemia to a severe…”
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Genetic Structure of Flores Island (Azores, Portugal) in the 19th Century and in the Present Day: Evidence from Surname Analysis by SANTOS, CRISTINA, ABADE, AUGUSTO, CANTONS, JORDI, MAYER, FRANCINE M., ALUJA, M. PILAR, LIMA, MANUELA

“…The island of Flores is the most westerly of the Azores archipelago (Portugal). Despite its marked geographic isolation and reduced population size,…”
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Insights from pattern of mtDNA variation into the genetic history of São Tomé e Prı́ncipe by Trovoada, Maria Jesus, Pereira, Luı́sa, Gusmão, Leonor, Abade, Augusto, Amorim, António, Prata, Maria João

“…Sequence data from the hypervariable segments I (HVS-I) and II (HVS-II) was obtained for 30 Angolares, 35 Forros and 38 Tongas, three self-reported ethnic…”
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Origins of a Mutation: Population Genetics of Machado-Joseph Disease in the Azores (Portugal) by LIMA, MANUELA, MAYER, FRANCINE M., COUTINHO, PAULA, ABADE, AUGUSTO

“…Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset. In the islands of the Azores (Portugal), MJD reaches the…”
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Prevalence, Geographic Distribution, and Genealogical Investigation of Machado-Joseph Disease in the Azores (Portugal) by LIMA, MANUELA, MAYER, FRANCINE, COUTINHO, PAULA, ABADE, AUGUSTO

“…Machado-Joseph disease (MJD) is an autosomal, dominantly inherited neurodegenerative disorder of adult onset. The prevalence of MJD reaches its highest values…”
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Prevalence, geographic distribution, and genealogical investigations of Machado-Joseph disease in the Azores by Lima, Manuela, Mayer, Francine, Coutinho, Paula, Abade, Augusto

“…Machado-Joseph disease (MJD) is an autosomal, dominantly inherited neurodegenerative disorder of adult onset. The prevalence of MJD reaches its highest values…”
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