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  1. Article

    Open Access

    Author Correction: Sex-biased patterns shaped the genetic history of Roma

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    C. García-Fernández, N. Font-Porterias, V. Kučinskas… in Scientific Reports (2020)

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  2. Article

    Open Access

    Sex-biased patterns shaped the genetic history of Roma

    The Roma population is a European ethnic minority characterized by recent and multiple dispersals and founder effects. After their origin in South Asia around 1,500 years ago, they migrated West. In Europe, th...

    C. García-Fernández, N. Font-Porterias, V. Kučinskas… in Scientific Reports (2020)

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  3. Article

    From the detection of population structure to the reconstruction of population history: the historical reading of the human genome

    H Laayouni, J Bertranpetit in Heredity (2009)

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  4. No Access

    Article

    Population structure in copy number variation and SNPs in the CCL4L chemokine gene

    The recent description of a large amount of copy number variation (CNV) in the human genome has extended the concept of genome diversity. In this study we integrate the analysis of CNV and single nucleotide po...

    R Colobran, D Comas, R Faner, E Pedrosa, R Anglada, R Pujol-Borrell… in Genes & Immunity (2008)

  5. No Access

    Article

    Extreme population differences across Neuregulin 1 gene, with implications for association studies

    Neuregulin 1 (NRG1) is one of the most exciting candidate genes for schizophrenia in recent years since its first association with the disease in an Icelandic population. Since then, many association studies have...

    M Gardner, A González-Neira, O Lao, F Calafell, J Bertranpetit… in Molecular Psychiatry (2006)

  6. No Access

    Article

    Haplotype tagging efficiency in worldwide populations in CTLA4 gene

    The cytotoxic T lymphocyte antigen 4 (CTLA4) acts as a potent negative regulator of T-cell response, and has been suggested as a pivotal candidate gene for autoimmune disorders such as Graves' disease, type 1 dia...

    A Ramírez-Soriano, O Lao, M Soldevila, F Calafell, J Bertranpetit… in Genes & Immunity (2005)

  7. No Access

    Article

    Association study between Alzheimer’s disease and genes involved in Aβ biosynthesis, aggregation and degradation: suggestive results with BACE1

    Amyloid β-peptide (Aβ) biosynthesis, aggregation and degradation constitute three important steps to consider in the study of pathological mechanisms involved in Alzheimer’s disease (AD). Several proteins have...

    J. Clarimón, J. Bertranpetit, F. Calafell, M. Boada, L. Tàrraga… in Journal of Neurology (2003)

  8. No Access

    Article

    Possible increased risk for Alzheimer's disease associated with neprilysin gene

    Neprilysin has recently been reported to be the major physiological Aβ-degradating enzyme. In this study we describe a new biallelic polymorphism in the 3′UTR of the neprilysin gene in a representative popula...

    J. Clarimón, F. J. Muñoz, M. Boada, L. Tàrraga, J. Sunyer… in Journal of Neural Transmission (2003)

  9. No Access

    Article

    Association of the CTLA4 promoter region (−1661G allele) with type 1 diabetes in the South Moroccan population

    The contribution of the candidate gene CTLA4 to type 1 diabetes is not well established. Although several polymorphisms have been repeatedly associated to the disease, several studies have not confirmed the as...

    L Bouqbis, H Izaabel, O Akhayat, A Pérez-Lezaun, F Calafell… in Genes & Immunity (2003)

  10. No Access

    Article

    Y chromosome STR haplotypes in four populations from northwest Africa

    The eight short tandem repeat (STR) polymorphic systems map** on the male-specific region of the human Y chromosome, DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393, were typed in four p...

    E. Bosch, F. Calafell, A. Pérez-Lezaun, D. Comas… in International Journal of Legal Medicine (2000)

  11. No Access

    Article

    Allele frequencies of 13 short tandem repeats in population samples from the Iberian Peninsula and Northern Africa

    The 13 short tandem repeat (STR) loci D3S1358, vWA, FGA, D16S539, TH01, TPOX, CSF1PO, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820 as well as the amelogenin locus, contained in AmpFlSTR Profiler Plus and/...

    A. Pérez-Lezaun, F. Calafell, J. Clarimón… in International Journal of Legal Medicine (2000)

  12. No Access

    Article

    Genetic distances and microsatellite diversification in humans

    F. Calafell, A. Pérez-Lezaun, J. Bertranpetit in Human Genetics (2000)

  13. No Access

    Article

    Mitochondrial DNA variation and the origin of the Europeans

    Sequences from the mitochondrial DNA (mtDNA) control region were analyzed in nine European and West Asian populations. They showed low genetic heterogeneity when compared to world populations. However, a Cauc...

    D. Comas, F. Calafell, E. Mateu, A. Pérez-Lezaun, E. Bosch… in Human Genetics (1997)

  14. No Access

    Article

    Microsatellite variation and the differentiation of modern humans

    This study presents an analysis of 20 tetranucleotide microsatellites in 16 worldwide human populations representing the major geographic groups. Global Fst values for the 20 microsatellites are indicators of...

    Anna Pérez-Lezaun, Francesc Calafell, E. Mateu, David Comas… in Human Genetics (1996)

  15. No Access

    Article

    Identification of a base pair substitution at the tetranucleotide tandem repeat locus DHFRP2 (AAAC)n in a worldwide survey

    An allele heterogeneity in a short tandem repeat at the human dihydrofolate reductase pseudogene (DHFRP2) was detected using non-denaturing gel electrophoresis and ethidium bromide staining. Sequence analysis ...

    A. Pérez-Lezaun, F. Calafell, E. Mateu, D. Comas… in International Journal of Legal Medicine (1996)

  16. No Access

    Article

    Biology, boundaries and borders

    Towards Justice and Peace is a splendid title for a symposium and book to honour Professor Sunderland. It is also a very difficult title for a biological anthropologist. I make the distinction from social anth...

    H. Macbeth, J. Bertranpetit in International Journal of Anthropology (1995)

  17. No Access

    Article

    The origin of the major cystic fibrosis mutation (ΔF508) in European populations

    ΔF508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been used to study the origin and e...

    N. Morral, J. Bertranpetit, X. Estivill, V. Nunes, T. Casals, J. Giménez… in Nature Genetics (1994)

  18. No Access

    Article

    Palmar flexion creases in schizophrenia

    Palmar flexion creases have been studied in schizophrenics with a family history of schizophrenia or other psychiatric disorders and without such a background, and compared to a control population. Palmar flex...

    L. Fañanás, P. Moral, J. Bertranpetit in International Journal of Anthropology (1991)

  19. No Access

    Article

    Seasonality of birth in schizophrenia

    The seasonality of birth in 142 schizophrenics from Barcelona (Spain) has been studied, showing a pattern similar to that described by other authors, with a maximum in winter. If sample is compared with the lo...

    L. Fañanas M.D., J. L. Marti-Tusquets… in Social Psychiatry and Psychiatric Epidemio… (1989)

  20. No Access

    Article

    Report of «IV Congreso Espanõl de Antropología Biológica»

    J. Bertranpetit, E. Sala in International Journal of Anthropology (1986)