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Papers by Rita Cabral

Research paper thumbnail of A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract

Thyroid, 2013

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Research paper thumbnail of HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium

BMC Research …, 2010

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Research paper thumbnail of Azores Islands: Genetic origin, gene flow and diversity pattern

Annals of Human …, 2008

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Research paper thumbnail of Geography of surnames in the Azores: Specificity and spatial distribution analysis

American Journal of Human Biology, 2005

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Research paper thumbnail of Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci

American Journal of Human Biology, 2008

To study the genetic diversity of São Miguel&... more To study the genetic diversity of São Miguel's population we compared 21 microsatellite loci in 204 individuals from São Miguel island and 103 individuals from mainland Portugal. The results show that São Miguel and mainland Portugal populations have an average gene diversity of 0.767 and 0.765, respectively. Allele frequencies of all markers are comparable to other European populations. This observation is corroborated by the genetic relationships analysis based on the NJ tree and principal component, where São Miguel is closely related to mainland Portugal. Overall, the data suggests that São Miguel does not show population structure and is outbred with high genetic diversity. Moreover, the characterization here described is crucial to predict and explain genotypes implicated in genetic diseases in the Azorean population.

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Research paper thumbnail of Human leptospirosis: seroreactivity and genetic susceptibility in the population of São Miguel Island (Azores, Portugal)

PloS one, 2014

Leptospirosis is a worldwide zoonotic and recognized neglected infectious disease. It has been ob... more Leptospirosis is a worldwide zoonotic and recognized neglected infectious disease. It has been observed that only a proportion of individuals exposed to pathogenic species of Leptospira become infected and develop clinically evident disease. Moreover, little information is available in subsequent reinfections. In the present study, we determine if a first infection with leptospirosis protects against subsequent reinfection, and investigate which of the host genetic factors are involved in the susceptibility and resistance to leptospirosis. We conducted, in 2011, a retrospective hospital-based case-control study in the São Miguel Island population (Azores archipelago). In order to determine the seropositivity against pathogenic Leptospira after the first episode of leptospirosis, we performed a serological evaluation in 97 unrelated participants diagnosed with leptospirosis between 1992 and 2011. The results revealed that 46.4% of the 97 participants have circulating anti-Leptospira ...

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Research paper thumbnail of A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract

Thyroid, 2013

Bookmarks Related papers MentionsView impact

Research paper thumbnail of HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium

BMC Research …, 2010

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Azores Islands: Genetic origin, gene flow and diversity pattern

Annals of Human …, 2008

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Geography of surnames in the Azores: Specificity and spatial distribution analysis

American Journal of Human Biology, 2005

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci

American Journal of Human Biology, 2008

To study the genetic diversity of São Miguel&... more To study the genetic diversity of São Miguel's population we compared 21 microsatellite loci in 204 individuals from São Miguel island and 103 individuals from mainland Portugal. The results show that São Miguel and mainland Portugal populations have an average gene diversity of 0.767 and 0.765, respectively. Allele frequencies of all markers are comparable to other European populations. This observation is corroborated by the genetic relationships analysis based on the NJ tree and principal component, where São Miguel is closely related to mainland Portugal. Overall, the data suggests that São Miguel does not show population structure and is outbred with high genetic diversity. Moreover, the characterization here described is crucial to predict and explain genotypes implicated in genetic diseases in the Azorean population.

Bookmarks Related papers MentionsView impact

Research paper thumbnail of Human leptospirosis: seroreactivity and genetic susceptibility in the population of São Miguel Island (Azores, Portugal)

PloS one, 2014

Leptospirosis is a worldwide zoonotic and recognized neglected infectious disease. It has been ob... more Leptospirosis is a worldwide zoonotic and recognized neglected infectious disease. It has been observed that only a proportion of individuals exposed to pathogenic species of Leptospira become infected and develop clinically evident disease. Moreover, little information is available in subsequent reinfections. In the present study, we determine if a first infection with leptospirosis protects against subsequent reinfection, and investigate which of the host genetic factors are involved in the susceptibility and resistance to leptospirosis. We conducted, in 2011, a retrospective hospital-based case-control study in the São Miguel Island population (Azores archipelago). In order to determine the seropositivity against pathogenic Leptospira after the first episode of leptospirosis, we performed a serological evaluation in 97 unrelated participants diagnosed with leptospirosis between 1992 and 2011. The results revealed that 46.4% of the 97 participants have circulating anti-Leptospira ...

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