Research Topics
| Antonio SalasSummaryAffiliation: Santiago de Compostela Country: Spain Publications
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Detail Information
Publications
Insights into Iberian population origins through the construction of highly informative Y-chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatelliteM Brion
Unit of Genetics, Institute of Legal Medicine, University of Santiago de Compostela, E-15782 Santiago de Compostela, Galicia, Spain
Am J Phys Anthropol 122:147-61. 2003..Implications of our results for the highly debated origin of Basques are also discussed...
Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in CubaIsabel Mendizabal
Unitat de Biologia Evolutiva, Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
BMC Evol Biol 8:213. 2008....- Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle EastAnita Brandstätter
Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
BMC Evol Biol 8:191. 2008..Here we describe the phylogenetic structure and genetic variety of hg R0 in five European populations and one population from the Middle East... - Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP'02-03 proficiency testing trialAntonio Salas
Unidad de Genetica, Facultad de Medicina de la Universidad de Santiago de Compostela, Instituto de Medicina Legal, A Coruna, Galicia Spain
Forensic Sci Int 148:191-8. 2005..In the present edition of the GEP-ISFG exercise we have paid special attention to the visual phylogenetic inspection for detecting common sequencing errors... - Shipwrecks and founder effects: divergent demographic histories reflected in Caribbean mtDNAAntonio Salas
Unidad de Genetica, Instituto de Medicina Legal, Universidad de Santiago de Compostela, 15782 Santiago de Compostela, Galicia, Spain
Am J Phys Anthropol 128:855-60. 2005.... - A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population geneticsAntonio Salas
Unidade de Xenetica, Instituto de Medicina Legal, Facultade de Medicina, 15782 Universidade de Santiago de Compostela, Centro Nacional de Xenotipado CeGen, Hospital Clinico Universitario, 15706 Galicia, Spain
Biochem Biophys Res Commun 335:891-9. 2005..A fictitious case study of a European mtDNA data set (albeit composed from the literature) then demonstrates the steps one has to go through in order to assess the quality of sequencing and documentation... - Charting the ancestry of African AmericansAntonio Salas
Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, Galicia, Spain
Am J Hum Genet 77:676-80. 2005..We show that >55% of the U.S. lineages have a West African ancestry, with <41% coming from west-central or southwestern Africa. These results are remarkably similar to the most up-to-date analyses of the historical record... 
A critical reassessment of the role of mitochondria in tumorigenesisAntonio Salas
Unidade de Xenetica, Instituto de Medicina Legal, Facultade de Medicina, Universidad de Santiago de Compostela, Galicia, Spain
PLoS Med 2:e296. 2005....- The African diaspora: mitochondrial DNA and the Atlantic slave tradeAntonio Salas
Unidad de Genética Forense, Instituto de Medicina Legal, Universidad de Santiago de Compostela, Galicia, Spain
Am J Hum Genet 74:454-65. 2004..However, they also indicate that, at least for the moment, considerable caution is warranted when assessing claims to be able to trace the ancestry of particular lineages to a particular locality within modern-day Africa... 
The mtDNA ancestry of admixed Colombian populationsA Salas
Unidade de Xenetica, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, 15782 Galicia, Spain
Am J Hum Biol 20:584-91. 2008....- Gender bias in the multiethnic genetic composition of central ArgentinaA Salas
Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, Galicia, Spain
J Hum Genet 53:662-74. 2008.... - [Studies of association in complex diseases: statistical problems related to the analysis of genetic polymorphisms]A Salas
Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, A Coruna
Rev Clin Esp 207:563-5. 2007..The present review deals with all these problems and provides guidelines that can help to minimize their effects... - The making of the African mtDNA landscapeAntonio Salas
Unidad de Genética Forense, Universidad de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
Am J Hum Genet 71:1082-111. 2002.... - Phylogeographic investigations: the role of trees in forensic geneticsA Salas
Unidad de Genetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782 Galicia, Spain
Forensic Sci Int 168:1-13. 2007..Finally, we show the usefulness of coding-region variation in a forensic context... - Ancestry analysis in the 11-M Madrid bomb attack investigationChristopher Phillips
Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain
PLoS ONE 4:e6583. 2009..The results achieved illustrate the benefit of adding specialized marker sets to provide enhanced scope and power to an already highly effective system of DNA analysis for forensic identification... - Mitochondrial echoes of first settlement and genetic continuity in El SalvadorAntonio Salas
Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
PLoS ONE 4:e6882. 2009..In order to shed light on the role of Mesoamerica in the peopling of the New World, the present study focuses on the analysis of the mtDNA variation in a population sample from El Salvador... - High mitochondrial DNA stability in B-cell chronic lymphocytic leukemiaMaria Cerezo
Unidade de Xenetica, Instituto de Medicina Legal, and Departamento de Anatomía Patolóxica y Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
PLoS ONE 4:e7902. 2009..Chronic Lymphocytic Leukemia (CLL) leads to progressive accumulation of lymphocytes in the blood, bone marrow, and lymphatic tissues. Previous findings have suggested that the mtDNA could play an important role in CLL... - The Etruscan timeline: a recent Anatolian connectionFrancesca Brisighelli
Unidade de Xenetica, Facultade de Medicina, Instituto de Medicina Legal, Universidade de Santiago de Compostela, Galicia, Spain
Eur J Hum Genet 17:693-6. 2009..1+/-0.1 to 2.3+/-0.4 kya B.P... - Reconstructing ancient mitochondrial DNA links between Africa and EuropeMaria Cerezo
Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Facultade de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
Genome Res 22:821-6. 2012..However, the remaining 35% of L mtDNAs form European-specific subclades, revealing that there was gene flow from sub-Saharan Africa toward Europe as early as 11,000 yr ago... - Microsatellite autosomal genotyping data in four indigenous populations from El SalvadorJosé Lovo Gómez
Unidad de Genetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, Spain
Forensic Sci Int 170:86-91. 2007..Population pairwise genetic comparisons with other population samples seem to indicate the existence of a major Native American component in the populations from El Salvador... - Nine autosomal STRs genotype profiles in a sample from Córdoba (Argentina)Juan Carlos Jaime
Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, C San Francisco s n, 15782, Santiago de Compostela, Spain
Forensic Sci Int 139:81-3. 2004..Nine STRs loci have been typed in a sample from Córdoba (Argentina)... - Applications of MALDI-TOF MS to large-scale human mtDNA population-based studiesMaria Cerezo
Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
Electrophoresis 30:3665-73. 2009.... - Multiple local and recent founder effects of TGM1 in Spanish familiesLaura Fachal
Fundación Pública Galega de Medicina Xenómica SERGAS, Grupo de Medicina Xenómica USC, CIBERER, IDIS, Santiago de Compostela, Spain
PLoS ONE 7:e33580. 2012..Moreover, these mutations were reported only once outside of Galicia, pointing to the existence of historical episodes of local severe genetic drift in this region... - A melting pot of multicontinental mtDNA lineages in admixed VenezuelansAlberto Gómez-Carballa
Unidade de Xenetica, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica y Ciencias Forenses, Universidade de Santiago de Compostela, Galicia, Spain
Am J Phys Anthropol 147:78-87. 2012.... - SPSmart: adapting population based SNP genotype databases for fast and comprehensive web accessJorge Amigo
Spanish National Genotyping Center CeGen, Genomic Medicine Group, CIBERER, University of Santiago de Compostela, Galicia, Spain
BMC Bioinformatics 9:428. 2008.... - New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0Vanesa Alvarez-Iglesias
Unidade de Xenetica, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica y Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
PLoS ONE 4:e5112. 2009..R0 sub-lineages are badly defined in the control region and therefore, the analysis of diagnostic coding region polymorphisms is needed in order to gain resolution in population and medical studies... - Viability of in-house datamarting approaches for population genetics analysis of SNP genotypesJorge Amigo
Spanish National Genotyping Center CeGen, Genomic Medicine Group, CIBERER, University of Santiago de Compostela, Galicia, Spain
BMC Bioinformatics 10:S5. 2009..While many of these SNP repositories have implemented data retrieval tools for general-purpose mining, these alone cannot cover the broad spectrum of needs of most medical and population genetics studies... - A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwide population groupsAntonio Salas
Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, Universidade de Santiago de Compostela, Galicia, Spain
PLoS ONE 5:e10218. 2010..Applications of the selected mtSNP panel range from anthropologic and medical studies to forensic genetic casework... - Uniparental markers of contemporary italian population reveals details on its pre-roman heritageFrancesca Brisighelli
Unidade de Xenetica, Facultade de Medicina, Instituto de Medicina Legal, Universidade de Santiago de Compostela, Galicia, Spain Forensic Genetics Laboratory, Institute of Legal Medicine, Universita Cattolica del Sacro Cuore, Rome, Italy Department of Zoology, University of Oxford, Oxford, United Kingdom
PLoS ONE 7:e50794. 2012..Although Italy has been a favorite subject for numerous population genetic studies, genetic patterns have never been analyzed comprehensively, including uniparental and autosomal markers throughout the country... - Y-chromosome STR-haplotype typing in El SalvadorJosé Saul Lovo
Facultad de Medicina, Instituto de Medicina Legal, University of Santiago de Compostela, C San Francisco s n, 15782 Santiago de Compostela, Galicia, Spain
Forensic Sci Int 142:45-9. 2004..The gene diversity was 0.9883 and the discrimination capacity was 0.8926. The combined Y-chromosome STR polymorphisms provide a powerful discrimination tool for routine forensic applications... - Minisequencing mitochondrial DNA pathogenic mutationsVanesa Alvarez-Iglesias
Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, Galicia, Spain
BMC Med Genet 9:26. 2008..In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations... - Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal diseaseAntonio Salas
Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses and Instituto de Medicina Legal, Universidade de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
PLoS ONE 4:e8347. 2009..We investigated whether mitochondrial genetic background contributes to meningococcal disease (MD) susceptibility... - Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control studyAna Vega
Fundación Pública Galega de Medicina Xenómica SERGAS, CIBERER, Santiago de Compostela, Galicia, Spain
Gynecol Oncol 112:210-4. 2009..We have carried out a high-throughput SNP genotyping project in order to shed some light on the complex genetic aetiology of non-familial breast cancer... - Coding region mitochondrial DNA SNPs: targeting East Asian and Native American haplogroupsV Alvarez Iglesias
Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela 15782, Galicia, Spain
Forensic Sci Int Genet 1:44-55. 2007.... - Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysisMaria Brion
Institute of Legal Medicine, University of Santiago de Compostela, San Francisco s n, 15782 Santiago de Compostela, Spain
Gene 329:17-25. 2004..Genetic drift in a small isolated population could explain this special behavior, and in addition to its anthropological interest, this finding has important forensic implications... - Human genome-wide screen of haplotype-like blocks of reduced diversityJavier Costas
Centro Nacional de Genotipado, Fundacion Publica Galega de Medicina Xenomica, Hospital Clinico Universitario, Universidade de Santiago de Compostela, E15706, Santiago de Compostela, Spain
Gene 349:219-25. 2005..This fact may present important implications in association studies, leading to a reduction of genotyping efforts... - The 'Pokemon' (ZBTB7) Gene: No Evidence of Association with Sporadic Breast CancerAntonio Salas
Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, Galicia, Spain
Clin Med Oncol 2:357-62. 2008..In this, the first study of the ZBTB7 gene in relation to, sporadic breast cancer, we found no evidence of an association... - What is a 'novel' mtDNA mutation--and does 'novelty' really matter?Hans Jurgen Bandelt
Department of Mathematics, University of Hamburg, Bundesstr 55, 20146, Hamburg, Germany, and Centro Nacional de Genotipado, Hospital Clinico Universitario, Galicia, Spain
J Hum Genet 51:1073-82. 2006.... - Reassessing the role of mitochondrial DNA mutations in autism spectrum disorderVanesa Alvarez-Iglesias
Unidade de Xenetica, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica e Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
BMC Med Genet 12:50. 2011.... - New insights into the Lake Chad Basin population structure revealed by high-throughput genotyping of mitochondrial DNA coding SNPsMaria Cerezo
Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, CIBERER, Galicia, Spain
PLoS ONE 6:e18682. 2011.... - mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populationsAna Vega
Unidad de Medicina Molecular, Hospital Clinico Universitario Universidad de Santiago de Compostela, Galicia, Spain
Oncogene 23:1314-20. 2004..Most of the tumor-associated changes are common human polymorphisms and mutational hotspots. To explain the molecular behavior of mtDNA instability in tumors, we propose a model also common to other biological situations... - Y-chromosome STR haplotypes in Córdoba (Argentina)Manuel Fondevila
Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, C San Francisco s n, 15782 Santiago de Compostela, Spain
Forensic Sci Int 137:217-20. 2003..The gene diversity was 0.9875 and the discrimination capacity was 0.8600. The combined polymorphism provides a powerful discrimination tool for routine forensic applications... - Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)Ana Fernández-Marmiesse
Unidad de Medicina Molecular, Fundacion Publica Galega de Medicina Xenomica, SERGAS, Hospital Clinico Universitario de Santiago, Galicia, Spain
Hum Mutat 27:214. 2006..The spectrum of mutations in Spanish HI patients provides an important tool for diagnosis and prognosis of HI patients in the Spanish population, as well as for genetic counseling of HI families... - Testing the performance of mtSNP minisequencing in forensic samplesA Mosquera-Miguel
Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia 15782, Spain
Forensic Sci Int Genet 3:261-4. 2009.... - No evidence that major mtDNA European haplogroups confer risk to schizophreniaAna Mosquera-Miguel
Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses and Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
Am J Med Genet B Neuropsychiatr Genet 159:414-21. 2012..It is unlikely that mtSNPs defining the most common European mtDNA haplogroups are related to SZ... - Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromesAlberto Gómez-Carballa
Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Medicina Legal, Facultade de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
PLoS ONE 6:e18348. 2011..In order to test these hypotheses, we sequenced entire mtDNA genomes in the largest series of patients suffering from Ras/MAPK pathway syndromes analyzed to date (n = 45), most of them classified as NS patients (n = 42)... - The mitochondrial genome is a "genetic sanctuary" during the oncogenic processMarcos Seoane
Molecular Oncology Laboratory MOL, Facultade de Medicina, Departamento de Fisioloxia, Universidade de Santiago de Compostela, Galicia, Spain
PLoS ONE 6:e23327. 2011..The integrity of mtDNA seems to be a necessary element for responding to the increased ROS production associated with the oncogenic process... - SNaPshot typing of mitochondrial DNA coding region variantsAntonio Salas
Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain
Methods Mol Biol 297:197-208. 2005..The method shows high accuracy and robustness, avoiding both the use of alternative time-consuming classical strategies (i.e., restriction fragment length polymorphism typing) and the requirement of high quantities of DNA template... - Evaluating the ability of tree-based methods and logistic regression for the detection of SNP-SNP interactionManuel Garcia-Magariños
Unidade de Xenetica, Instituto de Medicina Legal and Departamento de Anatomía Patológica y Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
Ann Hum Genet 73:360-9. 2009..However, when the study design is suboptimal (unfavourable to detect interaction in terms of e.g. sample size and MAF) there is a high chance of detecting false, spurious associations... - Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomesAlberto Gómez-Carballa
Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
PLoS ONE 7:e32851. 2012..5 kya). However, genetic evidence is still scarce and has been the focus of an intense debate... - ENGINES: exploring single nucleotide variation in entire human genomesJorge Amigo
Grupo de Medicina Xenómica, CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
BMC Bioinformatics 12:105. 2011.... - Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPsC Phillips
Forensic Genetics Department, University of Santiago de Compostela, 15782, and Centro Nacional de Genotipado CeGen, Hospital Clinico Universitario, 15706 Galicia, Spain
Forensic Sci Int Genet 1:273-80. 2007..This study shows that by choosing SNPs exhibiting marked allele frequency differences between population-groups a practical forensic test for assigning the most likely ancestry can be achieved from a single multiplexed assay... - Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencingB Quintans
Unidad de Genetica, Instituto de Medicina Legal, Universidad de Santiago de Compostela, San Francisco s n, Santiago de Compostela, Galicia 15782, Spain
Forensic Sci Int 140:251-7. 2004..e. RFLP typing) and the need for high quantities of DNA template... - Case report: identification of skeletal remains using short-amplicon marker analysis of severely degraded DNA extracted from a decomposed and charred femurM Fondevila
Institute of Legal Medicine, Genomic Medicine Group, Universidade de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
Forensic Sci Int Genet 2:212-8. 2008..The results also suggest a modified ancient DNA extraction procedure offers improved typing success from degraded skeletal material... - Clinical and molecular characterization of Wilson disease in Spanish patientsAntonio Brage
Servicio de Gastroenterologia, Complejo Hospitalario Universitario Juan Canalejo, A Coruna, Galicia, Spain
Hepatol Res 37:18-26. 2007..WD patients could start chelating treatment earlier on and possibly modify the natural progression of the disease... - Current next generation sequencing technology may not meet forensic standardsHans Jurgen Bandelt
Department of Mathematics, University of Hamburg, 20146 Hamburg, Germany
Forensic Sci Int Genet 6:143-5. 2012..Before one can really set out to access to entire mtDNA genome data with relative ease for forensic purposes, one needs careful calibration studies under strict forensic conditions-or might have to wait for another generation... - Length variability and interspersion patterns of the HRAS1 minisatellite: a new approach for the reconstruction of human population relationshipsA Vega
Unidad de Medicina Molecular, Hospital de Conxo-Facultade de Medicina, Universidade de Santiago de Compostela, Spain
Ann Hum Genet 65:351-61. 2001..Furthermore, the characterisation of the HRAS1 minisatellite in chimpanzees revealed clear differences when compared to humans, not only with respect to the allele size but also to the internal structure... - D9S1120, a simple STR with a common Native American-specific allele: forensic optimization, locus characterization and allele frequency studiesC Phillips
Genomic Medicine Group, CIBERER, University of Santiago de Compostela, Galicia, Spain
Forensic Sci Int Genet 3:7-13. 2008.... - New method to measure minisatellite variant repeat variation in population genetic studiesM Brion
Institute of Legal Medicine, University of Santiago de Compostela, E 15705 Santiago de Compostela, Galicia, Spain
Am J Hum Biol 14:421-8. 2002..As an example, the method has been applied to analyze variation in MSY1 (DYF155S1) in five sets of data from European and North African populations... - Analysis of the vitamin D receptor Fokl polymorphismE Vigo
Department of Physiology, School of Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain
J Endocrinol Invest 27:158-62. 2004..Thus, using a novel 109 bp hVDR gene fragment which excludes the AAT/AAC variant in the vitamin D receptor Fokl allows an easier determination by SSCP analysis of the Fokl polymorphism... - Insights into the western Bantu dispersal: mtDNA lineage analysis in AngolaStéphanie Plaza
Unitat de Biologia Evolutiva, Facultat de Ciencies de la Salut i de la Vida, Universitat Pompeu Fabra, Doctor Aiguader 80, 08003, Barcelona, Spain
Hum Genet 115:439-47. 2004.... - STR-CODIS typing in GreeceIoulia Skitsa
DNA Analysis Laboratory, Legal Medicine Department of Athens, 10 Anapafseos Street, Athens 11636, Spain
Forensic Sci Int 137:104-6. 2003..Thirteen STRs loci have been typed in a sample from Greece... - Analysis of the CODIS autosomal STR loci in four main Colombian regionsManuel Paredes
Laboratorio de ADN, Instituto Nacional de Medicina Legal y Ciencias Forenses de Colombia, Calle 7 A Nro 12 61 piso 3, Bogota, Colombia
Forensic Sci Int 137:67-73. 2003.... - The 2000-2001 GEP-ISFG Collaborative Exercise on mtDNA: assessing the cause of unsuccessful mtDNA PCR amplification of hair shaft samplesLourdes Prieto
Comisara General de Policía Científica, Sección de Biología ADN, Madrid, Spain
Forensic Sci Int 134:46-53. 2003..As a general conclusion the results emphasize the need of external proficiency testing as part of the accreditation procedure for the labs performing mtDNA analysis in forensic casework... - The fingerprint of phantom mutations in mitochondrial DNA dataHans Jurgen Bandelt
Department of Mathematics, University of Hamburg
Am J Hum Genet 71:1150-60. 2002..The filtering procedure is illustrated with two mtDNA data sets that were severely affected by phantom mutations... - Results of the 1999-2000 collaborative exercise and proficiency testing program on mitochondrial DNA of the GEP-ISFG: an inter-laboratory study of the observed variability in the heteroplasmy level of hair from the same donorAntonio Alonso
Departamento de Madrid, Instituto de Toxicologia, Seccion de Biologia, Luis Cabrera 9, 28002 Madrid, Spain
Forensic Sci Int 125:1-7. 2002..Two laboratories also described more than one heteroplasmic position from a single hair. The relevance of these findings for the interpretation of mtDNA data in the forensic context is also discussed... - A multiplex assay with 52 single nucleotide polymorphisms for human identificationJuan J Sanchez
Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, Copenhagen, Denmark
Electrophoresis 27:1713-24. 2006..Typical paternity indices ranged from 336 000 in Asians to 549 000 in Europeans. Details of the 52 SNP loci and population data generated in this work are freely available at http://www.snpforid.org... - Problems in FBI mtDNA databaseHans Jurgen Bandelt
Science 305:1402-4. 2004 - Low "penetrance" of phylogenetic knowledge in mitochondrial disease studiesHans Jurgen Bandelt
Department of Mathematics, University of Hamburg, Germany
Biochem Biophys Res Commun 333:122-30. 2005..To further validate our phylogenetic deductions, we completely sequenced two mtDNAs from healthy subjects that nearly match the mtDNAs of two patients, whose sequences gave problematic results... - High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patientsHans Jurgen Bandelt
Department of Mathematics, University of Hamburg, 20146 Hamburg, Germany
Biochem Biophys Res Commun 352:283-91. 2007..Here, we re-analyse four problematic LHON studies and propose guidelines by which some of the pitfalls could be avoided... - Testing for genetic structure in different urban Argentinian populationsUlises Toscanini
PRICAI FUNDACION FAVALORO, Av Belgrano 1782, 1er Subsuelo, 1093 Capital Federal, Buenos Aires, Argentina
Forensic Sci Int 165:35-40. 2007..Therefore, caution should be taken when using a common pooled database with general forensic purposes in Argentina... - The search of 'novel' mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factorHans Jurgen Bandelt
Int J Cardiol 126:439-42. 2008.... - Dissection of mitochondrial superhaplogroup H using coding region SNPsAnita Brandstätter
Institute of Legal Medicine, Innsbruck Medical University, Austria
Electrophoresis 27:2541-50. 2006.... - Is mitochondrial DNA variation associated with sporadic breast cancer risk?Ana Mosquera-Miguel
Cancer Res 68:623-5; author reply 624. 2008 - Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmersLluis Quintana-Murci
Human Evolutionary Genetics Unit, Centre National de la Recherche Scientifique URA3012, Institut Pasteur, 75015 Paris, France
Proc Natl Acad Sci U S A 105:1596-601. 2008.... - The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studiesAlessandro Achilli
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
PLoS ONE 3:e1764. 2008..In addition, the phylogenetic approach also indicates that the pathogenic status proposed for various mtDNA mutations, which actually define branches of Native American haplogroups, was based on insufficient grounds... - Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutationsQing Peng Kong
Laboratory of Cellular and Molecular Evolution, and Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China
Hum Mol Genet 15:2076-86. 2006..g. appropriate association studies. Following a guideline based on the phylogenetic knowledge as proposed here could help avoiding similar problems in the future... - The genetic legacy of western Bantu migrationsSandra Beleza
Instituto de Patologia e Imunologia, Universidade do Porto, Rua Dr Roberto Frias, S N, 4200 465 Porto, Portugal
Hum Genet 117:366-75. 2005..The data also indicate that the western stream of the Bantu expansion was a more gradual process than the eastern counterpart, which likely involved multiple short dispersals... - Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: focus on the mtDNA profile of a mixed semen-saliva stainManuel Crespillo
Instituto Nacional de Toxicologia y Ciencias Forenses, Servicio de Biología, Barcelona, Spain
Forensic Sci Int 160:157-67. 2006..During the GEP-ISFG annual conference a validation study was planned to progress in the interpretation of mtDNA from different mixtures... - Predisposing HLA-DQ2 and HLA-DQ8 haplotypes of coeliac disease and associated enteropathy in microscopic colitisFernando Fernández-Bañares
Department of Gastroenterology, Hospital Universitari Mutua Terrassa, Barcelona, Spain
Eur J Gastroenterol Hepatol 17:1333-8. 2005..To assess the presence of both genetic and serological markers of coeliac disease in patients with microscopic colitis, and whether there was associated enteropathy... - Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genesGloria Ribas
Grupo de Genética Humana Programa de Patología Molecular, Centro Nacional de Investigaciones Oncologicas CNIO, C Melchor Fdz Almagro 3, E 28029 Madrid, Spain
Hum Genet 118:669-79. 2006..Our results show generally high concordance with HapMap data in allele frequencies and haplotype distributions and confirm the applicability of HapMap SNP data to the study of complex diseases among the Spanish population... - A reappraisal of complete mtDNA variation in East Asian families with hearing impairmentYong Gang Yao
Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China
Hum Genet 119:505-15. 2006..The roles of other haplogroup specific or associated variants, such as A827G, T961C, T1005C, in East Asian subjects with aminoglycoside-induced and non-syndromic hearing loss are also unclear in view of the known mtDNA phylogeny... - ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotypingRoger Laughlin Milne
National Genotyping Centre, Spanish National Cancer Centre, Madrid, Spain
Cancer Res 66:9420-7. 2006..This study suggests that common intronic variation in ERCC4 is associated with protection from breast cancer... - Systematic evaluation of the causes of chronic watery diarrhea with functional characteristicsFernando Fernández Bañares
Department of Gastroenterology, Hospital Universitari Mutua Terrassa, Terrassa, Barcelona, Spain
Am J Gastroenterol 102:2520-8. 2007.... - 'Distorted' mitochondrial DNA sequences in schizophrenic patientsHans Jurgen Bandelt
Eur J Hum Genet 15:400-2; author reply 402-4. 2007 - Intestinal spirochetosis and chronic watery diarrhea: clinical and histological response to treatment and long-term follow upMaria Esteve
Department of Gastroenterology, Mutua Terrassa Hospital, University of Barcelona, Barcelona, Catalonia, Spain
J Gastroenterol Hepatol 21:1326-33. 2006....