1. A genome-wide association study identifies multiple loci for variation in human ear morphology.

    Nature Communications 6:7500 (2015) PMID 26105758 PMCID PMC4491814

    Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (l...
  2. Differing Evolutionary Histories of the ACTN3*R577X Polymorphism among the Major Human Geographic Groups.

    PLoS ONE 10(2):e0115449 (2015) PMID 25706920 PMCID PMC4338210

    It has been proposed that the functional ACTN3*R577X polymorphism might have evolved due to selection in Eurasian human populations. To test this possibility we surveyed all available population-based data for this polymorphism and performed a comprehensive evolutionary analysis of its genetic d...
  3. Differing Evolutionary Histories of the ACTN3*R577X Polymorphism among the Major Human Geographic Groups.

    PLoS ONE 10(2):e0115449 (2015) PMID 25706920 PMCID PMC4338210

    It has been proposed that the functional ACTN3*R577X polymorphism might have evolved due to selection in Eurasian human populations. To test this possibility we surveyed all available population-based data for this polymorphism and performed a comprehensive evolutionary analysis of its genetic d...
  4. Detection of convergent genome-wide signals of adaptation to tropical forests in humans.

    PLoS ONE 10(4):e0121557 (2015) PMID 25849546 PMCID PMC4388690

    Tropical forests are believed to be very harsh environments for human life. It is unclear whether human beings would have ever subsisted in those environments without external resources. It is therefore possible that humans have developed recent biological adaptations in response to specific sel...
  5. Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals.

    PLoS Genetics 10(9):e1004572 (2014) PMID 25254375 PMCID PMC4177621

    The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample ...
  6. Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals.

    PLoS Genetics 10(9):e1004572 (2014) PMID 25254375 PMCID PMC4177621

    The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample ...
  7. Factor VIII mutations and inhibitor formation in a southern Brazilian population.

    Blood Coagulation and Fibrinolysis 25(2):125 (2014) PMID 23963097

    A total of 110 patients with severe (n = 43), moderate (n = 15) or mild (n = 52) haemophilia A were studied in relation to their F8 gene mutation and inhibitor status. Nineteen percentage of them had anti-factor VIII antibodies. Significant heterogeneity in inhibitor prevalence considering the l...
  8. Factor VIII mutations and inhibitor formation in a southern Brazilian population.

    Blood Coagulation and Fibrinolysis 25(2):125 (2014) PMID 23963097

    A total of 110 patients with severe (n = 43), moderate (n = 15) or mild (n = 52) haemophilia A were studied in relation to their F8 gene mutation and inhibitor status. Nineteen percentage of them had anti-factor VIII antibodies. Significant heterogeneity in inhibitor prevalence considering the l...
  9. FGFR1 signaling is associated with the magnitude of morphological integration in human head shape.

    American Journal of Human Biology 26(2):164 (2014) PMID 24323762

    The head can be used as a model to study complex phenotypes controlled simultaneously by morphological integration (MI) due to common factors, and modular patterns caused by local factors affecting the development and functional demands of specific structures. The fibroblast growth factor and re...
  10. MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis.

    Twin Research and Human Genetics 16(6):1112 (2013) PMID 24103583

    Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expr...
  11. MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis.

    Twin Research and Human Genetics 16(6):1112 (2013) PMID 24103583

    Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expr...
  12. Brief communication: 5-HTTLPR genetic diversity and mode of subsistence in Native Americans.

    American Journal of Physical Anthropology 151(3):492 (2013) PMID 23686378

    The relationship between the "individualism-collectivism" and the serotonin transporter functional polymorphism (5-HTTLPR), suggested in the previous reports, was tested in Native South Amerindian populations. A total of 170 individuals from 21 populations were genotyped for the 5-HTTLPR alleles...
  13. Brief communication: 5-HTTLPR genetic diversity and mode of subsistence in Native Americans.

    American Journal of Physical Anthropology 151(3):492 (2013) PMID 23686378

    The relationship between the "individualism-collectivism" and the serotonin transporter functional polymorphism (5-HTTLPR), suggested in the previous reports, was tested in Native South Amerindian populations. A total of 170 individuals from 21 populations were genotyped for the 5-HTTLPR alleles...
  14. Genetic changes in severe haemophilia A: new contribution to the aetiology of a complex disease.

    Blood Coagulation and Fibrinolysis 24(2):164 (2013) PMID 23249616

    Haemophilia A is an X-linked bleeding disorder caused by reduced or absent clotting factor VIII (FVIII) activity, determined by heterogeneous mutations in the F8 gene. Identification of these pathogenic mutations is important for genetic counseling and the assessment of clinical manifestations. ...
  15. Genetic changes in severe haemophilia A: new contribution to the aetiology of a complex disease.

    Blood Coagulation and Fibrinolysis 24(2):164 (2013) PMID 23249616

    Haemophilia A is an X-linked bleeding disorder caused by reduced or absent clotting factor VIII (FVIII) activity, determined by heterogeneous mutations in the F8 gene. Identification of these pathogenic mutations is important for genetic counseling and the assessment of clinical manifestations. ...
  16. Demographic expansions in South America: enlightening a complex scenario with genetic and linguistic data.

    American Journal of Physical Anthropology 150(3):453 (2013) PMID 23341256

    Native Americans are characterized by specific and unique patterns of genetic and cultural/linguistic diversities, and this information has been used to understand patterns of geographic dispersion, and the relationship between these peoples. Particularly interesting are the Tupi and Je speaker ...
  17. Demographic expansions in South America: enlightening a complex scenario with genetic and linguistic data.

    American Journal of Physical Anthropology 150(3):453 (2013) PMID 23341256

    Native Americans are characterized by specific and unique patterns of genetic and cultural/linguistic diversities, and this information has been used to understand patterns of geographic dispersion, and the relationship between these peoples. Particularly interesting are the Tupi and Je speaker ...
  18. Genetic changes in severe haemophilia A: new contribution to the aetiology of a complex disease.

    Blood Coagulation and Fibrinolysis 24(2):164 (2013) PMID 23249616

    Haemophilia A is an X-linked bleeding disorder caused by reduced or absent clotting factor VIII (FVIII) activity, determined by heterogeneous mutations in the F8 gene. Identification of these pathogenic mutations is important for genetic counseling and the assessment of clinical manifestations. ...
  19. Fibroblast growth factor receptor 1 (FGFR1) variants and craniofacial variation in Amerindians and related populations.

    American Journal of Human Biology 25(1):12 (2013) PMID 23070782

    The polymorphic site rs4647905 of the FGFR1 gene was previously associated with a decrease in cephalic index (CI). Here, we evaluate the relationships between genotypes and cephalometric measurements and indices in one Mexican Native and two mestizo Mexican populations using two haplotype-tag SN...
  20. Lack of support for the association between facial shape and aggression: a reappraisal based on a worldwide population genetics perspective.

    PLoS ONE 8(1):e52317 (2013) PMID 23326328 PMCID PMC3541377

    Antisocial and criminal behaviors are multifactorial traits whose interpretation relies on multiple disciplines. Since these interpretations may have social, moral and legal implications, a constant review of the evidence is necessary before any scientific claim is considered as truth. A recent ...