L Gusmao

Summary

Affiliation: Institute of Molecular Pathology and Immunology
Country: Portugal

Publications

  1. pmc Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing
    Rui Pereira
    IPATIMUP Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal
    PLoS ONE 7:e29684. 2012
  2. pmc Diversity and specificity of microsatellites within Aspergillus section Fumigati
    Ricardo Araujo
    IPATIMUP, Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal
    BMC Microbiol 12:154. 2012
  3. pmc Rapid identification of Aspergillus fumigatus within the section Fumigati
    Rita Serrano
    IPATIMUP, Institute of Molecular Pathology and Immunology of University of Porto, Rua Dr, Roberto Frias s n, 4200 465 Porto, Portugal
    BMC Microbiol 11:82. 2011
  4. pmc Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers
    Paulo Navarro-Costa
    Centro de Genética Humana, Instituto Nacional de Saúde Dr, Ricardo Jorge, 1649 016 Lisboa, Portugal
    BMC Genomics 8:342. 2007
  5. pmc Demographic history of Canary Islands male gene-pool: replacement of native lineages by European
    Rosa Fregel
    Department of Genetics, University of La Laguna, Avda Astrofísico Fco, Sánchez, La Laguna, 38271 Santa Cruz de Tenerife, Spain
    BMC Evol Biol 9:181. 2009
  6. doi request reprint Capillary electrophoresis of an X-chromosome STR decaplex for kinship deficiency cases
    Leonor Gusmao
    IPATIMUP Institute of Pathology and Molecular Immunology of the University of Porto, Porto, Portugal
    Methods Mol Biol 830:57-71. 2012
  7. doi request reprint A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations
    Leonor Gusmao
    IPATIMUP Institute of Pathology and Molecular Immunology, University of Porto, Porto, Portugal
    Int J Legal Med 123:227-34. 2009
  8. ncbi request reprint Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10
    L Gusmao
    IPATIMUP, Instituto de Patologia e Imunologia Molecular da Universidade do Porto Rua Dr Roberto Frias, S N, 4200 465 Porto, Portugal
    Int J Legal Med 116:139-47. 2002
  9. ncbi request reprint Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438
    Leonor Gusmao
    IPATIMUP, Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Dr Roberto Frias s n, 4200 465 Porto, Portugal
    Int J Legal Med 116:322-6. 2002
  10. ncbi request reprint Genetic diversity of 10 X chromosome STRs in northern Portugal
    Rui Pereira
    Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Dr Roberto Frias, Portugal
    Int J Legal Med 121:192-7. 2007

Collaborators

Detail Information

Publications27

  1. pmc Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing
    Rui Pereira
    IPATIMUP Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal
    PLoS ONE 7:e29684. 2012
    ....
  2. pmc Diversity and specificity of microsatellites within Aspergillus section Fumigati
    Ricardo Araujo
    IPATIMUP, Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal
    BMC Microbiol 12:154. 2012
    ....
  3. pmc Rapid identification of Aspergillus fumigatus within the section Fumigati
    Rita Serrano
    IPATIMUP, Institute of Molecular Pathology and Immunology of University of Porto, Rua Dr, Roberto Frias s n, 4200 465 Porto, Portugal
    BMC Microbiol 11:82. 2011
    ..The purpose of the present study was to develop a rapid method for the molecular identification of A. fumigatus to distinguish it from other species within the section Fumigati...
  4. pmc Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers
    Paulo Navarro-Costa
    Centro de Genética Humana, Instituto Nacional de Saúde Dr, Ricardo Jorge, 1649 016 Lisboa, Portugal
    BMC Genomics 8:342. 2007
    ..Yet, partial AZFc deletions yield phenotypes ranging from normospermia to azoospermia, thwarting definite conclusions on their real impact on fertility...
  5. pmc Demographic history of Canary Islands male gene-pool: replacement of native lineages by European
    Rosa Fregel
    Department of Genetics, University of La Laguna, Avda Astrofísico Fco, Sánchez, La Laguna, 38271 Santa Cruz de Tenerife, Spain
    BMC Evol Biol 9:181. 2009
    ....
  6. doi request reprint Capillary electrophoresis of an X-chromosome STR decaplex for kinship deficiency cases
    Leonor Gusmao
    IPATIMUP Institute of Pathology and Molecular Immunology of the University of Porto, Porto, Portugal
    Methods Mol Biol 830:57-71. 2012
    ....
  7. doi request reprint A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations
    Leonor Gusmao
    IPATIMUP Institute of Pathology and Molecular Immunology, University of Porto, Porto, Portugal
    Int J Legal Med 123:227-34. 2009
    ..Antioquia differed from all other samples, except the one from Río Negro...
  8. ncbi request reprint Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10
    L Gusmao
    IPATIMUP, Instituto de Patologia e Imunologia Molecular da Universidade do Porto Rua Dr Roberto Frias, S N, 4200 465 Porto, Portugal
    Int J Legal Med 116:139-47. 2002
    ..68% increase in haplotype diversity was obtained and the number of different haplotypes rose from 157 to 196. When DYS434 was not considered the haplotype diversity was not affected...
  9. ncbi request reprint Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438
    Leonor Gusmao
    IPATIMUP, Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Dr Roberto Frias s n, 4200 465 Porto, Portugal
    Int J Legal Med 116:322-6. 2002
    ..The presence of allele 1 of DYS438 was restricted to haplogroup J. The SNP typing can be helpful in distinguishing STR haplotype identity by descent from identity by state, thus proving to be very informative in forensic investigations...
  10. ncbi request reprint Genetic diversity of 10 X chromosome STRs in northern Portugal
    Rui Pereira
    Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Dr Roberto Frias, Portugal
    Int J Legal Med 121:192-7. 2007
    ..The present work demonstrates that these genetic markers are highly discriminating and therefore useful for human identification purposes and anthropological research...
  11. ncbi request reprint Grouping of Y-STR haplotypes discloses European geographic clines
    Leonor Gusmao
    IPATIMUP, Instituto de Patologia e Imunologia, Molecular da Universidade do Porto, 4200 465 Porto, Portugal
    Forensic Sci Int 134:172-9. 2003
    ....
  12. ncbi request reprint Mutation rates at Y chromosome specific microsatellites
    L Gusmao
    IPATIMUP, Institute of Pathology and Immunology of University of Porto, Porto, Portugal
    Hum Mutat 26:520-8. 2005
    ..Repeat gains were more frequent than losses, longer alleles were found to be more mutable, and the mutation rate seemed to increase with the father's age. Hum Mutat 26(6), 520-528, 2005. (c) 2005 Wiley-Liss, Inc...
  13. ncbi request reprint DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis
    L Gusmao
    IPATIMUP, Porto, Portugal
    Forensic Sci Int 157:187-97. 2006
    ..The current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles, population genetics and reporting methods...
  14. ncbi request reprint Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours
    C Alves
    Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Portugal
    Eur J Hum Genet 8:540-4. 2000
    ..6% of the cases and loss of heterozygosity (LOH) also in 9.6% of the cases studied. The results obtained with GSTP1 in gastric cancer were compared with previously reported data on MSI using BAT-26 and several dinucleotide repeat markers...
  15. ncbi request reprint Genetic diversity of Y-specific STRs in chimpanzees (Pan troglodytes)
    L Gusmao
    Instituto de Patologia e Imunologia Molecular da Universidade do Porto IPATIMUP, Porto, Portugal
    Am J Primatol 57:21-9. 2002
    ..A high haplotype diversity value was found (1.000 +/- 0.017), demonstrating the usefulness and informative power of these Y-STRs for future studies on chimpanzee population genetics...
  16. ncbi request reprint STR data for the AmpFlSTR profiler plus loci from Macau (China)
    L Gusmao
    IPATIMUP, R Dr Roberto Frias, S N, 4200 Porto, Portugal
    Forensic Sci Int 123:74-5. 2001
    ....
  17. ncbi request reprint Extending STR markers in Y chromosome haplotypes
    S Beleza
    IPATIMUP, Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Dr Roberto Frias, S N, 4200 Porto, Portugal
    Int J Legal Med 117:27-33. 2003
    ..For instance, in our sample the addition of the DYS437, DYS438 and GATA A7.2 to a 13-locus set increased haplotype diversity only by 0.0001...
  18. ncbi request reprint STR data from S. Tomé e Príncipe (Gulf of Guinea, West Africa)
    L Gusmao
    IPATIMUP, R Dr Roberto Frias, S N, 4200 Porto, Portugal
    Forensic Sci Int 116:53-4. 2001
    ..Allele frequencies for eight STRs (CD4, FES/FPS, MBPB, TH01, TP53, TPO, F13A1, VWA) were estimated from samples (sized between 279 and 328) of unrelated individuals born in S. Tomé e Príncipe (Gulf of Guinea, West Africa)...
  19. ncbi request reprint 17 STR data (AmpF/STR Identifiler and Powerplex 16 System) from Cabinda (Angola)
    S Beleza
    Department of Population Genetics, Instituto de Patologia e Imunologia Molecular da Universidade do Porto, R Dr Roberto Frias s n, Porto 4200 465, Portugal
    Forensic Sci Int 141:193-6. 2004
    ..Comparative analyses between our population data and other African databases, namely Promega's African-Americans, AB Applied Biosystems African-Americans and five other population samples gathered from the literature are also presented...
  20. ncbi request reprint VWA STR genotyping: further inconsistencies between Perkin-Elmer and Promega kits
    C Alves
    Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Portugal
    Int J Legal Med 115:97-9. 2001
    ..Our findings are also compared with those previously reported...
  21. doi request reprint A perspective on the history of the Iberian gypsies provided by phylogeographic analysis of Y-chromosome lineages
    A Gusmão
    Instituto de Patologia e Imunologia da Universidade do Porto, Rua Dr Roberto Frias s n, Porto, Portugal
    Ann Hum Genet 72:215-27. 2008
    ....
  22. ncbi request reprint STR data (AmpFlSTR profiler plus) from north Portugal
    A Amorim
    IPATIMUP, R Roberto Frias, S N, 4200 Oporto, Portugal
    Forensic Sci Int 115:119-21. 2001
    ..Allele frequencies for the nine STRs included in the AmpFlSTR Profiler Plus kit (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820) were estimated from a sample of 365-427 unrelated individuals born in north Portugal...
  23. ncbi request reprint DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis
    L Gusmao
    IPATIMUP, Porto, Portugal
    Int J Legal Med 120:191-200. 2006
    ..The current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles, population genetics and reporting methods..
  24. doi request reprint Simple and highly discriminatory microsatellite-based multiplex PCR for Aspergillus fumigatus strain typing
    R Araujo
    IPATIMUP, Institute of Pathology and Molecular Immunology, University of Porto, Porto, Portugal
    Clin Microbiol Infect 15:260-6. 2009
    ..fumigatus during their hospitalization. Specific measures must therefore be taken in order to prevent and restrict such incidents...
  25. ncbi request reprint Segregation analysis of tetra- and pentanucleotide short tandem repeat polymorphisms: deviation from Mendelian expectations
    F Silva
    IPATIMUP Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Portugal
    Electrophoresis 20:1697-701. 1999
    ..Specific mating types are apparently responsible for most of these abnormal segregations. These results suggest selective factors working either at the gametic or zygotic levels...
  26. ncbi request reprint Bantu and European Y-lineages in Sub-Saharan Africa
    L Pereira
    Instituto de Patologia e Imunologia Molecular da Universidade do Porto, R Dr Roberto Frias s n, 4200 Porto, Portugal
    Ann Hum Genet 66:369-78. 2002
    ..9%, in significant contrast with the female counterpart where no European lineages were detected...
  27. ncbi request reprint H-RAS 81 polymorphism is significantly associated with aneuploidy in follicular tumors of the thyroid
    P Castro
    Institute of Molecular Pathology and Immunology of the University of Porto IPATIMUP, Porto, Portugal
    Oncogene 25:4620-7. 2006
    ..Our results suggest that the H-RAS 81T --> C polymorphism may induce aneuploidy through overexpression of the active p21 isoform of H-RAS...