Cristina Santos

Summary

Country: Spain

Publications

  1. ncbi request reprint A novel mutation in JARID1C gene associated with mental retardation
    Cristina Santos
    Genetics Service, Centre de Diagnostic Biomedic, Hospital Clinic, Barcelona, Spain
    Eur J Hum Genet 14:583-6. 2006
  2. doi request reprint Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3)
    Conceição Bettencourt
    Center of Research in Natural Resources CIRN, University of the Azores, Ponta Delgada, Portugal
    Neurogenetics 11:193-202. 2010
  3. ncbi request reprint Genetic structure and origin of peopling in the Azores islands (Portugal): the view from mtDNA
    C Santos
    Unity of Anthropology, Department BABVE, Faculty of Sciences, Autonomous University of Barcelona, 08193 Bellaterra Barcelona, Spain
    Ann Hum Genet 67:433-56. 2003
  4. pmc Mutation patterns of mtDNA: empirical inferences for the coding region
    Cristina Santos
    Center for Research in Natural Resources CIRN, University of the Azores, 9500 Ponta Delgada, S, Miguel, Azores, Portugal
    BMC Evol Biol 8:167. 2008
  5. doi request reprint Mitochondrial DNA patterns in the Macaronesia islands: Variation within and among archipelagos
    Cristina Santos
    Unitat Antropologia Biològica, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona, Spain
    Am J Phys Anthropol 141:610-9. 2010
  6. ncbi request reprint Genetic structure of the Azores Islands: a study using 15 autosomal short tandem repeat loci
    Cristina Santos
    Centre of Research in Natural Resources and Department of Biology, University of the Azores, S Miguel, Azores
    Coll Antropol 33:991-9. 2009
  7. ncbi request reprint Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal)
    Cristina Santos
    Anthropology Unit, Department BABVE, Faculty of Sciences, Autonomous University of Barcelona, 08193 Bellaterra, Barcelona, Spain
    Mol Biol Evol 22:1490-505. 2005
  8. pmc Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
    Conceição Bettencourt
    Center of Research in Natural Resources, University of the Azores, Ponta Delgada, Portugal
    BMC Neurol 11:131. 2011
  9. pmc The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls
    Conceição Bettencourt
    Center of Research in Natural Resources and Department of Biology, University of the Azores, Ponta Delgada, Portugal
    Eur J Hum Genet 18:621-3. 2010
  10. doi request reprint The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease
    Conceição Bettencourt
    Center of Research in Natural Resources and Department of Biology, University of Azores, Rua Mãe de Deus Apartado 1422, 9501 801 Ponta Delgada, Azores, Portugal
    Arch Neurol 68:1580-3. 2011

Collaborators

Detail Information

Publications31

  1. ncbi request reprint A novel mutation in JARID1C gene associated with mental retardation
    Cristina Santos
    Genetics Service, Centre de Diagnostic Biomedic, Hospital Clinic, Barcelona, Spain
    Eur J Hum Genet 14:583-6. 2006
    ..Our data highlights the importance of reporting mutations in this gene since it might support the recent findings that implicates JARID1C with XLMR...
  2. doi request reprint Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3)
    Conceição Bettencourt
    Center of Research in Natural Resources CIRN, University of the Azores, Ponta Delgada, Portugal
    Neurogenetics 11:193-202. 2010
    ....
  3. ncbi request reprint Genetic structure and origin of peopling in the Azores islands (Portugal): the view from mtDNA
    C Santos
    Unity of Anthropology, Department BABVE, Faculty of Sciences, Autonomous University of Barcelona, 08193 Bellaterra Barcelona, Spain
    Ann Hum Genet 67:433-56. 2003
    ..Nevertheless, a great part of the variation in the Azorean mtDNA can be explained by the settlement history...
  4. pmc Mutation patterns of mtDNA: empirical inferences for the coding region
    Cristina Santos
    Center for Research in Natural Resources CIRN, University of the Azores, 9500 Ponta Delgada, S, Miguel, Azores, Portugal
    BMC Evol Biol 8:167. 2008
    ....
  5. doi request reprint Mitochondrial DNA patterns in the Macaronesia islands: Variation within and among archipelagos
    Cristina Santos
    Unitat Antropologia Biològica, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona, Spain
    Am J Phys Anthropol 141:610-9. 2010
    ..Moreover, contacts between archipelagos seem to have had a low impact on the mtDNA genetic pool of each archipelago...
  6. ncbi request reprint Genetic structure of the Azores Islands: a study using 15 autosomal short tandem repeat loci
    Cristina Santos
    Centre of Research in Natural Resources and Department of Biology, University of the Azores, S Miguel, Azores
    Coll Antropol 33:991-9. 2009
    ....
  7. ncbi request reprint Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal)
    Cristina Santos
    Anthropology Unit, Department BABVE, Faculty of Sciences, Autonomous University of Barcelona, 08193 Bellaterra, Barcelona, Spain
    Mol Biol Evol 22:1490-505. 2005
    ....
  8. pmc Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
    Conceição Bettencourt
    Center of Research in Natural Resources, University of the Azores, Ponta Delgada, Portugal
    BMC Neurol 11:131. 2011
    ....
  9. pmc The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls
    Conceição Bettencourt
    Center of Research in Natural Resources and Department of Biology, University of the Azores, Ponta Delgada, Portugal
    Eur J Hum Genet 18:621-3. 2010
    ..The slight discrepancies obtained were insufficient to cause significant differences in the distribution of the expanded alleles, and therefore no improvement in onset variance explanation was obtained with mRNA...
  10. doi request reprint The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease
    Conceição Bettencourt
    Center of Research in Natural Resources and Department of Biology, University of Azores, Rua Mãe de Deus Apartado 1422, 9501 801 Ponta Delgada, Azores, Portugal
    Arch Neurol 68:1580-3. 2011
    ..To investigate a modulating effect of the apolipoprotein E (APOE) polymorphism on age at onset of Machado-Joseph disease (MJD)...
  11. doi request reprint Mitochondrial DNA patterns in the Iberian Northern plateau: population dynamics and substructure of the Zamora province
    Luis Alvarez
    Unitat Antropologia Biològica, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona, Spain
    Am J Phys Anthropol 142:531-9. 2010
    ..It can be stated that the differences observed in the genetic pool of the sampled area at regional level results from the mixture of different populations carrying new lineages into this area at different points in history...
  12. ncbi request reprint Determination of human caucasian mitochondrial DNA haplogroups by means of a hierarchical approach
    Cristina Santos
    Anthropology Unit, Department BABVE, Faculty of Sciences, Autonomous University of Barcelona, 08193 Bellaterra Barcelona, Spain
    Hum Biol 76:431-53. 2004
    ....
  13. pmc Tracing the origin of the east-west population admixture in the Altai region (Central Asia)
    Mercedes González-Ruiz
    Unitat d Antropologia Biològica, Dept BABVE, Universitat Autonoma de Barcelona, Bellaterra, Barcelona, Spain
    PLoS ONE 7:e48904. 2012
    ..This would provide support for a demographic expansion of local people of Altai instead of westward or eastward migratory events, as the demographic event behind the high population genetic admixture and diversity in Central Asia...
  14. doi request reprint Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs
    Francisca Silva
    Center for Research in Natural Resources, and Department of Biology, University of the Azores, Ponta Delgada, Portugal
    Am J Hum Biol 22:221-3. 2010
    ..Moreover, differences between the Western group and the North of Portugal are also reported, supporting the pertinence of a specific database for the Azores populations, on what concerns the genetic markers analyzed...
  15. doi request reprint Y-chromosome variation in South Iberia: insights into the North African contribution
    Luis Alvarez
    Unitat d Antropologia Biològica, Departament Biologia Animal, Biologia Vegetal i Ecologia, Universitat Autonoma de Barcelona, 08193 Cerdanyola del Valles, Barcelona, Spain
    Am J Hum Biol 21:407-9. 2009
    ..5%), which is a lower contribution than would be expected. This result rejects the hypothesis of a gradual genetic assimilation of Berber settlers during the Islamic period...
  16. doi request reprint Nuclear insertions of mitochondrial origin: Database updating and usefulness in cancer studies
    Amanda Ramos
    Unitat d Antropologia Biològica, Departament BABVE, Universitat Autonoma de Barcelona, 08193 Cerdanyola del Valles, Barcelona, Spain
    Mitochondrion 11:946-53. 2011
    ..Moreover, due to the amount of information provided for each nuclear insertion, this database should play an important role in designing evolutionary, phylogenetic and epidemiological studies...
  17. ncbi request reprint Polymorphism of the APOE locus in the Azores Islands (Portugal)
    Conceição Bettencourt
    Center of Research in Natural Resources CIRN, University of the Azores, Ponta Delgada, San Miguel, Azores, Portugal
    Hum Biol 78:509-12. 2006
    ..The data generated from this study will be of importance in the context of ongoing studies concerning the factors that influence lipid levels in the Azorean population...
  18. doi request reprint Frequency and pattern of heteroplasmy in the control region of human mitochondrial DNA
    Cristina Santos
    Biological Anthropology Unit, Department BABVE, Faculty of Sciences, Autonomous University of Barcelona, 08193, Bellaterra Barcelona, Spain
    J Mol Evol 67:191-200. 2008
    ....
  19. doi request reprint Cross-sectional study of risk factors for atherosclerosis in the Azorean population
    Teresa Cymbron
    Center of Research in Natural Resources CIRN, University of the Azores, Ponta Delgada, Portugal
    Ann Hum Biol 38:354-9. 2011
    ..Atherosclerosis-a major cause of vascular disease, including ischemic heart disease (IHD), is a pathology that has a two-fold higher mortality rate in the Azorean Islands compared to mainland Portugal...
  20. ncbi request reprint The African contribution to the present-day population of the Azores Islands (Portugal): analysis of the Y chromosome haplogroup E
    Domingos Neto
    Department of Biology, Center of Research in Natural Resources CIRN, University of the Azores, Portugal
    Am J Hum Biol 19:854-60. 2007
    ..The present-day representation of sub-Saharan lineages in Azores, although reduced, is higher than in other Portuguese populations, where the demographic representation of sub-Saharan slaves is reported as similar...
  21. ncbi request reprint Genetic structure of Flores island (Azores, Portugal) in the 19th century and in the present day: evidence from surname analysis
    Cristina Santos
    Anthropology Unit, Department BABVE, Faculty of Sciences, Autonomous University of Barcelona, 08193 Bellaterra Barcelona, Spain
    Hum Biol 77:317-41. 2005
    ....
  22. doi request reprint Analysis of segregation patterns in Machado-Joseph disease pedigrees
    Conceição Bettencourt
    Department of Biology, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501 801, Ponta Delgada, Azores, Portugal
    J Hum Genet 53:920-3. 2008
    ..982, P = 0.322). However, there was a tendency favouring the transmission of the normal alleles. Thus, SRD is not a potential mechanism on the basis of MJD epidemiological representation...
  23. doi request reprint Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)
    Conceição Bettencourt
    Department of Biology CIRN, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501 801 Ponta Delgada, Azores, Portugal
    J Hum Genet 53:333-9. 2008
    ..Therefore, the genotypic composition of the transmitters in a sample to be analysed should influence the ability to detect SRD, acting as a confounding factor...
  24. doi request reprint Validated primer set that prevents nuclear DNA sequences of mitochondrial origin co-amplification: a revision based on the New Human Genome Reference Sequence (GRCh37)
    Amanda Ramos
    Unitat d Antropologia Biològica, Departament BABVE, Universitat Autonoma de Barcelona, Barcelona, Spain
    Electrophoresis 32:782-3. 2011
    ..The new analysis showed that one of the tested primer pairs requires a revision. Therefore, a new validated primer pair, which specifically amplifies the mitochondrial region located between positions 6520 and 9184, is presented...
  25. ncbi request reprint Testing hierarchical levels of population sub-structuring: the Azores islands (Portugal) as a case study
    Cristina Santos
    Center of Research in Natural Resources CIRN and Department of Biology, University of the Azores, Ponta Delgada, Azores, Portugal
    J Biosoc Sci 40:607-21. 2008
    ..Maria. After integrating values of summary statistics with results from AMOVA and graphical methods, a more accurate genetic profile of the Azores, highly supported by genetic data, has emerged...
  26. doi request reprint Human mitochondrial DNA complete amplification and sequencing: a new validated primer set that prevents nuclear DNA sequences of mitochondrial origin co-amplification
    Amanda Ramos
    Departament BABVE, Unitat d Antropologia Biològica, Universitat Autonoma de Barcelona, Cerdanyola del Valles, Barcelona, Spain
    Electrophoresis 30:1587-93. 2009
    ..These primers could be a useful tool in future projects that deal with mtDNA complete sequencing and heteroplasmy detection, since they represent a set of primers that have been tested for the non-amplification of nDNA...
  27. doi request reprint The presence of nuclear families in prehistoric collective burials revisited: the bronze age burial of Montanissell Cave (Spain) in the light of aDNA
    Marc Simon
    GROB Unitat d Antropologia Biològica, Department Biologia Animal, Biologia Vegetal i Ecologia, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona, Spain
    Am J Phys Anthropol 146:406-13. 2011
    ....
  28. pmc Evaluation of two methods for computational HLA haplotypes inference using a real dataset
    Bruno F Bettencourt
    Hospital Santo Espirito de Angra do Heroismo, SEEBMO, Angra do Heroismo, Azores, Portugal
    BMC Bioinformatics 9:68. 2008
    ..1.1)--was compared using a set of 122 HLA haplotypes (A-B-Cw-DQB1-DRB1) determined through direct counting. The accuracy was measured with the Mean Squared Error (MSE), Similarity Index (IF) and Haplotype Identification Index (IH)...
  29. doi request reprint Primer effect in the detection of mitochondrial DNA point heteroplasmy by automated sequencing
    Marta Calatayud
    Unitat d Antropologia Biològica, Departament BABVE, Universitat Autonoma de Barcelona, 08193 Cerdanyola del Valles, Barcelona, Spain
    Mitochondrial DNA 24:303-11. 2013
    ....
  30. ncbi request reprint Mitochondrial DNA mutations in cancer: a review
    Cristina Santos
    Unitat d Antropologia Biològica, Facultat de Biociencies, Universitat Autonoma de Barcelona, Spain
    Curr Top Med Chem 8:1351-66. 2008
    ..Experiments with cybrids have been successfully used; however, models are needed in which specific mtDNA variants may be introduced into the same mitochondrial and cellular background...
  31. ncbi request reprint Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal)
    Carlos Gonzalez
    Department of Psychiatry, Hospital of Divino Espirito Santo, Ponta Delgada, Portugal
    Community Genet 7:196-201. 2004
    ..The short-term impact of the pre-symptomatic genetic test (PT) for Machado-Joseph disease (MJD) in the Azores (Portuguese Islands) was assessed in 46 individuals at risk who completed the PT Program...