Grupo de Medicina Xenómica

Publicaciones

• YaoY-G, Salas A, Bravi C-M, Bandelt H-J (2006) A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet, in press
• Brandstätter A, Salas A, Niederstätter H, Gassner C, Carracedo Á, Parson W. Dissection of mitochondrial superhaplogroup H using coding region SNPs. Electrophoresis; in press
• Fernández–Marmiesse A, Salas A, Vega A, Fernández–Lorenzo JR, Barreiro J, Carracedo Á (2005) Mutation spectra of ABCC8 (SUR1) gene in Spanish patients with hyperinsulynemic hypoglycaemia of infancy (HI). Hum Mutation, 27:214
• Ribas G, González-Neira A, Salas A, Milne RL, Vega A, Carracedo B, González E, Barroso E, Fernández LP, Yankilevich P, Robledo M, Carracedo Á, Benítez J (2005) Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum Genet 2:1–11
• Crespillo M, Paredes MR, Prieto L, Montesino M, Salas A, Albarrán C, Álvarez-Iglesias V, Amorin A, Berniell-Lee G, Brehm A, Carril JC, Corach D, Cuevas N, Di Lonardo AM, Doutremepuich C, Espinheira RM, Espinoza M, Gómez F, González A, Hernández A, Hidalgo M, Jimenez M, Leite FPN, López AM, López-Soto M, Lorente JA, Pagano S, Palacio AM, Pestano JJ, Pinheiro MF, Raimondi E, Ramón MM, Tovar F, Vidal-Rioja L, Vide MC, Whittle MR, Yunis JJ, Garcia-Hirschfel J (2005) Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: focus on the mtDNA profile of a mixed semen-saliva stai. Forensic Sci Int 19, in press
• Sánchez JJ, Phillips C, Børsting C, Balogh K, Bogus M, Fondevila M, Harrison CD, Musgrave-Brown E, Salas A, Carracedo A, Morling N, Syndercombe-Court D, Schneider PM (2005) A multiplex assay with 52 single nucleotide polymorphisms for human identification. Electrophoresis; in press
• Salas A, Phillips C, Carracedo A (2005) Ancestry vs physical traits: the search for ancestry informative markers (AIMs). Int J Legal Med 25:1–2; in press
• Salas A, Yao Y-G, Macaulay V, Vega A, Carracedo Á , Bandelt H-J (2005) A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med 2(11): e296 See also synopsis in PLoS Med (2005) Casting Doubt on the Role of Mitochondria in Tumorigenesis. PLoS Med 2(11): e373 (http://medicine.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pmed.0020373). Get the paper and the synoptis directly from the Journal web site.
• Salas A, Carracedo A, Richards M, Macaulay V (2005) Charting the Ancestry of African Americans. Am J Hum Genet 77:676–80
• Salas A, Carracedo A, Macaulay V, Richards M, Bandelt HJ (2005) A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. Biochem Biophys Res Commun 335:891–899
• Salas A, Richards M, Lareu MV, Sobrino B, Silva S, Matamoros M, Macaulay V, Carracedo A (2005f) Shipwrecks and founder effects: Divergent demographic histories reflected in Caribbean mtDNA. Am J Phys Anthropol, 128:855–60
• Bandelt HJ, Achilli A, Kong QP, Salas A, Lutz-Bonengel S, Sun C, Zhang YP, Torroni A, Yao Y-G (2005) Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies. Biochem Biophys Res Commun 333:122–130
• Beleza S, Gusmão L, Amorim A, Carracedo A, Salas A (2005) The genetic legacy of western Bantu migrations. Hum Genet 117:366–75
• Bandelt H-J, Kong Q-P, Parson W, Salas A (2005) More evidence for non-maternal inheritance of mitochondrial DNA? J Med Genet, 333:122–30
• Costas J, Salas A, Phillips C, Carracedo A (2005) Human genome-wide screen of haplotype-like blocks of reduced diversity. Gene 349:219–25
• Salas A, Prieto L, Montesino M, Albarrán C, Arroyo E, Paredes-Herrera MR, Di Lonardo AM, Doutremepuich C, Fernández-Fernández I, de la Vega AG, Alves C, López CM, López-Soto M, Lorente JA, Picornell A, Espinheira RM, Hernández A, Palacio AM, Espinoza M, Yunis JJ, Pérez-Lezaun A, Pestano JJ, Carril JC, Corach D, Vide MC, Álvarez-Iglesias V, Pinheiro MF, Whittle MR, Brehm A, Gómez J (2005) Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP'02-03 proficiency testing trial. Forensic Sci Int 148:191–8
• Salas A, Quintáns B, Álvarez-Iglesias V (2005) SNaPshot typing of mitochondrial DNA coding region variants. Methods Mol Biol 297:197–208
• Egeland T, Bøvelstad HM, Storvik GO, Salas A (2004) Inferring the most likely geographical origin of mtDNA sequence profiles. Ann Hum Genet 68:461–71
• Bandelt H-J, Salas A, Bravi C (2004) Problems in FBI mtDNA database. Science 305:1402–04
• Plaza S, Salas A, Calafell F, Corte-Real F, Bertranpetit J, Carracedo A, Comas D (2004) Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola. Hum Genet 115:439–47
• Bandelt H-J, Salas A, Lutz-Bonengel S (2004) Artificial recombination in forensic mtDNA population databases. Int J Legal Med 118:267–73
• Vigo E, Salas A, Perez-Fernandez R, Segura C (2004) Analysis of the vitamin D receptor Fokl polymorphism. J Endocrinol Invest 27:158–62
• Lovo JS, Fondevila M, Salas A, Brion M, Lareu MV, Carracedo A (2004) Y-chromosome STR-haplotype typing in El Salvador. Forensic Sci Int 142:45–9
• Salas A, Torroni A, Richards M, Quintana-Murci L, Hill C, Macualay V, Carracedo A. Reply to Bortolini et al. (2004) The phylogeography of mitochondrial DNA haplogroup L3g in Africa and the Atlantic slave trade. Am J Hum Genet 75:524–6
• Quintáns B, Álvarez-Iglesias V, Salas A, Phillips C, Lareu MV, Carracedo A (2004) Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing. Forensic Sci Int 140:251–7
• Brión M, Quintáns B, Zarrabeitia M, González-Neira A, Salas A, Lareu V, Tyler-Smith C, Carracedo A (2004) Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis. Gene 329:17–25
• Tully G, Barritt SM, Bender K, Brignon E, Capelli C, Dimo-Simonin N, Eichmann C, Ernst CM, Lambert C, Lareu MV, Ludes B, Mevag B, Parson W, Pfeiffer H, Salas A, Schneider PM, Staalstrom E (2004) Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts. Forensic Sci Int 140:1–11
• Salas A, Richards M, Lareu MV, Scozzari R, Coppa A, Torroni A, Macaulay V, Carracedo A (2004) The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet 74:454-465 see a short comments by Myles Axton in “Research Notes” Human geography of the African diaspora. Nat Genet 36 (4): 329
• Jaime JC, Fondevila M, Salas A, Lareu MV, Carracedo A (2004) Nine autosomal STRs genotype profiles in a sample from Córdoba (Argentina). Forensic Sci Int 139:81–3
• Vega A, Salas A, Gamborino E, Sobrido MJ, Macaulay V, Carracedo A (2004) mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations. Oncogene 23:1314–20
• Fondevila M, Jaime JC, Salas A, Lareu MV, Carracedo A (2003) Y-chromosome STR haplotypes in Cordoba (Argentina). Forensic Sci Int 137:217–20
• Skitsa I, Salas A, Lareu MV, Carracedo A (2003) STR-CODIS typing in Greece. Forensic Sci Int 137:104-6
• Paredes M, Galindo A, Bernal M, Avila S, Andrade D, Vergara C, Rincon M, Romero RE, Navarrete M, Cardenas M, Ortega J, Suarez D, Cifuentes A, Salas A, Carracedo A (2003) Analysis of the CODIS autosomal STR loci in four main Colombian regions. Forensic Sci Int 137:67–73
• Briòn M, Salas A, González-Neira A, Lareu MV, Carracedo A (2003) Insights into Iberian population origins through the construction of highly informative Y-chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatellite. Am J Phys Anthropol 122:147–61
• Prieto L, Montesino M, Salas A, Alonso A, Albarrán C, Álvarez S, Crespillo M, Di Lonardo AM, Doutremepuich C, Fernández-Fernández I, de la Vega AG, Gusmão L, López CM, López-Soto M, Lorente JA, Malaghini M, Martinez CA, Modesti NM, Palacio AM, Paredes M, Pena SD, Pérez-Lezaun A, Pestano JJ, Puente J, Sala A, Vide M, Whittle MR, Yunis JJ, Gómez J (2003) The 2000-2001 GEP-ISFG Collaborative Exercise on mtDNA: assessing the cause of unsuccessful mtDNA PCR amplification of hair shaft samples. Forensic Sci Int 134:46–53
• Aler M, Salas A, Murcia E, Gisbert-Grifo M, Carracedo A (2003) Population study of eight novel Y-chromosome STRs (DYS460, DYS461, GATA-A10, GATA-C4, GATA-H4, DYS434, DYS437, DYS439) in a southeast Iberian population: looking for highly informative Y-chromosome haplotypes. Int J Legal Med 117:127–31
• Salas A, Richards M, De la Fé T, Lareu MV, Sobrino B, Sánchez-Diz P, Macaulay V, Carracedo A (2002) The making of the African mtDNA landscape. Am J Hum Genet 71:1082–111. Errata: click here
• Bandelt H-J, Quintana-Murci L, Salas A, Macaulay V (2002) The fingerprint of phantom mutations in mtDNA data. Am J Hum Genet 71:1150–60 see comments by Kathry Beauregard in Am J Hum Genet (2002) 71: i-ii
• Brión M, Cao R, Salas A, Lareu MV, Carracedo A (2002) New method to measure minisatellite variant repeat variation in population genetic studies. Am J Hum Biol 14:421–8
• Pineda-Bernal L, Borjas-Fajardo L, Zabala W, Fernandez E, Delgado W, Salas A, Sánchez-Diz P, Carracedo A (2002) Data for nine autosomal STRs markers (CSF1PO, D13S31, D16S539, D7S820, F13A01, FESFPS, TH01, vWA, TPOX) from Venezuela. Forensic Sci Int 125:277–8
• Alonso A, Salas A, Albarrán C, Arroyo E, Castro A, Crespillo M, di Lonardo AM, Lareu MV, Cubria CL, Soto ML, Lorente JA, Semper MM, Palacio A, Paredes M, Pereira L, Lezaun AP, Brito JP, Sala A, Vide MC, Whittle M, Yunis JJ, Gómez J (2002) 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 donor. Forensic Sci Int 125:1–7
• Salas A, Rasmussen EM, Lareu MV, Morling N, Carracedo A (2001) Fluorescent SSCP of overlapping fragments (FSSCP-OF): a highly sensitive method for the screening of mitochondrial DNA variation. Forensic Sci Int 124:97–103
• Bravo ML, Moreno MA, Builes JJ, Salas A, Lareu MV, Carracedo A (2001) Autosomal STR genetic variation in negroid Choco and Bogota populations. Int J Legal Med 115:102–4
• Vega A, Salas A, Costas J, Barros F, Carracedo A (2001) Length variability and interspersion patterns of the HRAS1 minisatellite: a new approach for the reconstruction of human population relationships. Ann Hum Genet 65:351–61
• Aler M, Salas A, Sánchez-Diz P, Murcia E, Carracedo A, Gisbert M (2001) Y-chromosome STR haplotypes from a Western Mediterranean population sample. Forensic Sci Int 119:254–7
• Salas A, Lareu MV, Carracedo A (2001) Heteroplasmy in mtDNA and the weight of evidence in forensic mtDNA analysis: a case report. Int J Legal Med 114:186–90
• Salas A, Lareu V, Calafell F, Bertranpetit J, Carracedo A (2000) mtDNA hypervariable region II (HVII) sequences in human evolution studies. Eur J Hum Genet 8:964–74
• Aler M, Salas A, Gisbert M, Carracedo A (2001) Data for nine autosomal STRs markers from Valencia (East Mediterranean coast of the Iberian Peninsula). Forensic Sci Int 116:37–9
• Guillén M, Lareu MV, Pestoni C, Salas A, Carracedo A (2000) Ethical-legal problems of DNA databases in criminal investigation. J Med Ethics 26:266–71
• Barral S, Lareu MV, Salas A, Carracedo A (2000) Sequence variation of two hypervariable short tandem repeats at the D22S683 and D6S477 loci. Int J Legal Med 113:146–49
• Lareu MV, Barral S, Salas A, Carracedo A (1998) Sequence variation of a variable short tandem repeat at the D18S535 locus. Int J Legal Med 111:337–9
• Salas A, Comas D, Lareu MV, Bertranpetit J, Carracedo A (1998) mtDNA analysis of the Galician population: a genetic edge of European variation. Eur J Hum Genet 6:365–75
• Capeáns C, Blanco MJ, Lareu MV, Salas A, Pineiro A, Sánchez-Salorio M, Carracedo A (1998) 160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa. Hum Hered 48:237–40
• Lareu MV, Barral S, Salas A, Pestoni C, Carracedo A (1998) Sequence variation of a hypervariable short tandem repeat at the D1S1656 locus. Int J Legal Med 111:244–7
• Barros F, Lareu MV, Salas A, Carracedo A (1997) Rapid and enhanced detection of mitochondrial DNA variation using single-strand conformation analysis of superposed restriction enzyme fragments from polymerase chain reaction-amplified products. Electrophoresis 18:52–4
• Lareu MV, Pestoni MC, Barros F, Salas A, Carracedo A (1996) Sequence variation of a hypervariable short tandem repeat at the D12S391 locus. Gene 182:151–3