Publicaciones 2012

Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas. Galanter JM, Fernandez-Lopez JC, Gignoux CR, Barnholtz-Sloan J, Fernandez-Rozadilla C, Via M, Hidalgo-Miranda A, Contreras AV, Figueroa LU, Raska P, Jimenez-Sanchez G, Zolezzi IS, Torres M, Ponte CR, Ruiz Y, Salas A, Nguyen E, Eng C, Borjas L, Zabala W, Barreto G, González FR, Ibarra A, Taboada P, Porras L, Moreno F, Bigham A, Gutierrez G, Brutsaert T, León-Velarde F, Moore LG, Vargas E, Cruz M, Escobedo J, Rodriguez-Santana J, Rodriguez-Cintrón W, Chapela R, Ford JG, Bustamante C, Seminara D, Shriver M, Ziv E, Burchard EG, Haile R, Parra E, Carracedo A; LACE Consortium. PLoS Genet. Article. 2012 Mar; 8(3):e1002554. Epub 2012 Mar 8.

Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia. Carrera N, Arrojo M, Sanjuán J, Ramos-Ríos R, Paz E, Suárez-Rama JJ, Páramo M, Agra S, Brenlla J, Martínez S, Rivero O, Collier DA, Palotie A, Cichon S, Nöthen MM, Rietschel M, Rujescu D, Stefansson H, Steinberg S, Sigurdsson E, St Clair D, Tosato S, Werge T, Stefansson K, González JC, Valero J, Gutiérrez-Zotes A, Labad A, Martorell L, Vilella E, Carracedo Á, Costas J. Biol Psychiatry. Article. 2012 Jan 15; 71(2):169-77.

Multiple local and recent founder effects of TGM1 in Spanish families. Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A. PLoS One. Article. 2012; 7(4):e33580. Epub 2012 Apr 12.

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis. Fachal L, Rodríguez-Pazos L, Ginarte M, Beiras A, Suárez-Peñaranda JM, Toribio J, Carracedo Á, Vega A. Int J Dermatol. Article. 2012 Apr; 51(4):427-30. doi: 10.1111/j.1365-4632.2011.05171.x.

TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients. Fachal L, Gómez-Caamaño A, Sánchez-García M, Carballo A, Peleteiro P, Lobato-Busto R, Carracedo A, Vega A. Radiother Oncol. Article. 2012 May; 103(2):206-9. Epub 2012 Mar 3.

Detection of a large rearrangement in PALB2 in spanish breast cancer families with male breast cancer. Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Díez O, Carracedo A, Caldés T, Vega A. Breast Cancer Res Treat. Article. 2012 Feb; 132(1):307-15. Epub 2011 Nov 4.

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A. Breast Cancer Res Treat. Article. 2012 Apr; 132(3):1009-23. Epub 2011 Jul 19.

The prevalence of Acarapis woodi in Spanish honey bee (Apis mellifera) colonies. Garrido-Bailón E, Bartolomé C, Prieto L, Botías C, Martínez-Salvador A, Meana A, Martín-Hernández R, Higes M. Exp Parasitol. Article. 2012 Dec;132(4):530-6. doi: 10.1016/j.exppara.2012.08.018. Epub 2012 Sep 10.

Molecular modelling of G protein-coupled receptors through the web. Rodríguez, D.; Bello, X; Gutiérrez-de-Terán H. Molecular Informatics. Article. 2012; 31:334–41. DOI: 10.1002/minf.201100162.

No evidence that major mtDNA European haplogroups confer risk to schizophrenia. Mosquera-Miguel A, Torrell H, Abasolo N, Arrojo M, Paz E, Ramos-Ríos R, Agra S, Páramo M, Brenlla J, Martínez S, Vilella E, Valero J, Gutiérrez-Zotes A, Martorell L, Costas J, Salas A. Am J Med Genet B Neuropsychiatr Genet. Article. 2012 Jun;159B(4):414-21. doi: 10.1002/ajmg.b.32044. Epub 2012 Mar 29.

Reconstructing ancient mitochondrial DNA links between Africa and Europe. Cerezo M, Achilli A, Olivieri A, Perego UA, Gómez-Carballa A, Brisighelli F, Lancioni H, Woodward SR, López-Soto M, Carracedo A, Capelli C, Torroni A, Salas A. Genome Res. Article. 2012 May;22(5):821-6. Epub 2012 Mar 27.

Haplogrouping mitochondrial DNA sequences in Legal Medicine/Forensic Genetics. Bandelt HJ, van Oven M, Salas A. Int J Legal Med. Article. 2012 Nov;126(6):901-16. doi: 10.1007/s00414-012-0762-y. Epub 2012 Sep 1.

Reconstructing Native American population history. Reich D, Patterson N, Campbell D, Tandon A, Mazieres S, Ray N, Parra MV, Rojas W, Duque C, Mesa N, García LF, Triana O, Blair S, Maestre A, Dib JC, Bravi CM, Bailliet G, Corach D, Hünemeier T, Bortolini MC, Salzano FM, Petzl-Erler ML, Acuña-Alonzo V, Aguilar-Salinas C, Canizales-Quinteros S, Tusié-Luna T, Riba L, Rodríguez-Cruz M, Lopez-Alarcón M, Coral-Vazquez R, Canto-Cetina T, Silva-Zolezzi I, Fernandez-Lopez JC, Contreras AV, Jimenez-Sanchez G, Gómez-Vázquez MJ, Molina J, Carracedo A, Salas A, Gallo C, Poletti G, Witonsky DB, Alkorta-Aranburu G, Sukernik RI, Osipova L, Fedorova SA, Vasquez R, Villena M, Moreau C, Barrantes R, Pauls D, Excoffier L, Bedoya G, Rothhammer F, Dugoujon JM, Larrouy G, Klitz W, Labuda D, Kidd J, Kidd K, Di Rienzo A, Freimer NB, Price AL, Ruiz-Linares A. Nature. Article. 2012 Aug 16;488(7411):370-4.

Typing short amplicon binary polymorphisms: supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains. Romanini C, Catelli ML, Borosky A, Pereira R, Romero M, Salado Puerto M, Phillips C, Fondevila M, Freire A, Santos C, Carracedo A, Lareu MV, Gusmao L, Vullo CM. Forensic Sci Int Genet. Article. 2012 Jul;6(4):469-76. Epub 2011 Nov 25.

Characterization of single nucleotide polymorphisms of cytochrome p450 in an Australian deceased sample. Pilgrim JL, Ruiz Y, Gesteira A, Cruz R, Gerostamoulos D, Carracedo A, Drummer OH. Curr Drug Metab. Review. 2012 Jun 1;13(5):679-92.

Cognitive functioning in children and adults with Smith-Magenis syndrome. Osório A, Cruz R, Sampaio A, Garayzábal E, Carracedo A, Fernández-Prieto M. Eur J Med Genet. Article. 2012 Jun;55(6-7):394-9. Epub 2012 Apr 19.

Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients. Fachal L, Gómez-Caamaño A, Peleteiro P, Carballo A, Calvo-Crespo P, Sánchez-García M, Lobato-Busto R, Carracedo A, Vega A. Radiother Oncol. Article. 2012 Dec;105(3):321-8. doi: 10.1016/j.radonc.2012.09.013. Epub 2012 Oct 15. 2012 Oct 15. pii: S0167-8140(12)00411-2. doi: 10.1016/j.radonc.2012.09.013. [Epub ahead of print]

Summarizing phenotype evolution patterns from report cases. Taboada M, Alvarez V, Martínez D, Pilo B, Robinson PN, Sobrido MJ. J Med Syst. Research support; Original paper. 2012 Nov; Volume 36, Issue 1 Supplement, pp 25-36. 2012 Oct 20. [Epub ahead of print].

SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population. Carreño O, Corominas R, Fernández-Morales J, Camiña M, Sobrido MJ, Fernández-Fernández JM, Pozo-Rosich P, Cormand B, Macaya A. Am J Med Genet B Neuropsychiatr Genet. Article. 2012 Jan;159B(1):94-103. doi: 10.1002/ajmg.b.32007. Epub 2011 Dec 7.

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY. Nat Genet. Article. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.

Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization. García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ. Brain. Article. 2012 May;135(Pt 5):1423-35. Epub 2012 Apr 3.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC. Nat Genet. Article. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.

Human variome project country nodes: Documenting genetic information within a country. Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Ravel T, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RG, Rimoin D; (International Confederation of Countries Advisory Council). Hum Mutat. Article. 2012 Nov;33(11):1513-9. doi: 10.1002/humu.22147. Epub 2012 Jul 18.

Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias. Bettencourt C, Quintáns B, Ros R, Ampuero I, Yáñez Z, Pascual SI, de Yébenes JG, Sobrido MJ. Hum Mutat. Article. 2012 Sep;33(9):1315-23. doi: 10.1002/humu.22148. Epub 2012 Jul 16.

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis. Taboada M, Martínez D, Pilo B, Jiménez-Escrig A, Robinson PN, Sobrido MJ. Bmc Med Inform Decis Mak. Article. 2012 Jul 31;12:78. doi: 10.1186/1472-6947-12-78.

Databases for neurogenetics: introduction, overview, and challenges. Sobrido MJ, Cacheiro P, Carracedo A, Bertram L. Hum Mutat. Article. 2012 Sep;33(9):1311-4. doi: 10.1002/humu.22164.

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample. Sintas C, Carreño O, Fernández-Morales J, Cacheiro P, Sobrido MJ, Narberhaus B, Pozo-Rosich P, Macaya A, Cormand B. Cephalalgia. Article. 2012 Oct;32(14):1076-80. doi: 10.1177/0333102412457090. Epub 2012 Aug 20.

Differentiation of African components of ancestry to stratify groups in a case-control study of a Brazilian urban population. Silbiger VN, Hirata MH, Luchessi AD, Genvigir FD, Cerda A, Rodrigues AC, Willrich MA, Arazi SS, Dorea EL, Bernik MM, Faludi AA, Bertolami MC, Santos C, Carracedo A, Salas A, Freire A, Lareu MV, Phillips C, Porras-Hurtado L, Fondevila M, Hirata RD. Genet Test Mol Biomarkers. Article. 2012 Jun;16(6):524-30. doi: 10.1089/gtmb.2011.0267. Epub 2012 Jan 30.

Sarcomeric gene mutations in sudden infant death syndrome (SIDS). Brion M, Allegue C, Santori M, Gil R, Blanco-Verea A, Haas C, Bartsch C, Poster S, Madea B, Campuzano O, Brugada R, Carracedo A. Forensic Sci Int. Article. 2012 Jun 10;219(1-3):278-81. doi: 10.1016/j.forsciint.2012.01.018. Epub 2012 Feb 22.

The ant genomes have been invaded by several types of mariner transposable elements. Lorite P, Maside X, Sanllorente O, Torres MI, Periquet G, Palomeque T. Naturwissenschaften. Article. 2012 Dec;99(12):1007-20. doi: 10.1007/s00114-012-0982-5. Epub 2012 Oct 25. 2012 Oct 25. [Epub ahead of print].

X-ray cross-complementing group 1 and thymidylate synthase polymorphisms might predict response to chemoradiotherapy in rectal cancer patients. Lamas MJ, Duran G, Gomez A, Balboa E, Anido U, Bernardez B, Rana-Diez P, Lopez R, Carracedo A, Barros F. Int J Radiat Oncol Biol Phys. Article. 2012 Jan 1;82(1):138-44. Epub 2010 Dec 16.

A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR. Pereira R, Pereira V, Gomes I, Tomas C, Morling N, Amorim A, Prata MJ, Carracedo A, Gusmão L. Int J Legal Med. Article. 2012 Jan;126(1):97-105. Epub 2011 Jun 30.

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Pérez-Carbonell L, Ruiz-Ponte C, Guarinos C, Alenda C, Payá A, Brea A, Egoavil CM, Castillejo A, Barberá VM, Bessa X, Xicola RM, Rodríguez-Soler M, Sánchez-Fortún C, Acame N, Castellví-Bel S, Piñol V, Balaguer F, Bujanda L, De-Castro ML, Llor X, Andreu M, Carracedo A, Soto JL, Castells A, Jover R. Gut. Article. 2012 Jun;61(6):865-72. Epub 2011 Aug 25.

Increased clopidogrel response is associated with ABCC3 expression: a pilot study. Luchessi AD, Silbiger VN, Cerda A, Hirata RD, Carracedo A, Brion M, Iñiguez A, Bravo M, Bastos G, Sousa AG, Hirata MH. Clin Chim Acta. Article. 2012 Feb 18;413(3-4):417-21. Epub 2011 Oct 20.

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Spain SL, Carvajal-Carmona LG, Howarth KM, Jones AM, Su Z, Cazier JB, Williams J, Aaltonen LA, Pharoah P, Kerr DJ, Cheadle J, Li L, Casey G, Vodicka P, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Morreau H, van Wezel T, Ruiz-Ponte C, Fernandez-Rozadilla C, Carracedo A, Castells A, Castellvi-Bel S, Dunlop M, Houlston RS, Tomlinson IP. Hum Mol Genet. Article. 2012 Feb 15;21(4):934-46. Epub 2011 Nov 10.

Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. Sanchez-Juan P, Bishop MT, Aulchenko YS, Brandel JP, Rivadeneira F, Struchalin M, Lambert JC, Amouyel P, Combarros O, Sainz J, Carracedo A, Uitterlinden AG, Hofman A, Zerr I, Kretzschmar HA, Laplanche JL, Knight RS, Will RG, van Duijn CM. Neurobiol Aging. Article. 2012 Jul;33(7):1487.e21-8. Epub 2011 Dec 2.

Susceptibility genetic variants associated with early-onset colorectal cancer. Giráldez MD, López-Dóriga A, Bujanda L, Abulí A, Bessa X, Fernández-Rozadilla C, Muñoz J, Cuatrecasas M, Jover R, Xicola RM, Llor X, Piqué JM, Carracedo A, Ruiz-Ponte C, Cosme A, Enríquez-Navascués JM, Moreno V, Andreu M, Castells A, Balaguer F, Castellví-Bel S; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association (Salas, A.). Carcinogenesis. Article. 2012 Mar;33(3):613-9. Epub 2012 Jan 10.

Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing. Pereira R, Phillips C, Pinto N, Santos C, dos Santos SE, Amorim A, Carracedo Á, Gusmão L. PLoS One. Article. 2012;7(1):e29684. Epub 2012 Jan 17.

COGENT (COlorectal cancer GENeTics) revisited. Houlston RS; members of COGENT (Carracedo A, Ruiz-Ponte C). Mutagenesis. Article. 2012 Mar;27(2):143-51. Review.

Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience. Castellví-Bel S, Ruiz-Ponte C, Fernández-Rozadilla C, Abulí A, Muñoz J, Bessa X, Brea-Fernández A, Ferro M, Giráldez MD, Xicola RM, Llor X, Jover R, Piqué JM, Andreu M, Castells A, Carracedo A; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Mutagenesis. Article. 2012 Mar;27(2):153-9.

Distribution of allele frequencies of 20 STRs loci in a population sample from Calabria, Southern Italy. Barbaro A, Phillips C, Formoso LF, Lareu MV, Carracedo Á. Forensic Sci Int Genet. Letter. 2012 Sep;6(5):e137-8. doi: 10.1016/j.fsigen.2012.02.006. Epub 2012 Mar 18.

How executive functions are related to intelligence in Williams syndrome. Osório A, Cruz R, Sampaio A, Garayzábal E, Martínez-Regueiro R, Gonçalves ÓF, Carracedo Á, Fernández-Prieto M. Res Dev Disabil. Article. 2012 Jul-Aug;33(4):1169-75. Epub 2012 Mar 22.

Genetic epistasis in female suicide attempters. Fernández-Navarro P, Vaquero-Lorenzo C, Blasco-Fontecilla H, Díaz-Hernández M, Gratacòs M, Estivill X, Costas J, Carracedo Á, Fernández-Piqueras J, Saiz-Ruiz J, Baca-Garcia E. Prog Neuro-Psychoph. Article. 2012 Aug 7;38(2):294-301. Epub 2012 Apr 23.

Genetic variability of the SNPforID 52-plex identification SNP panel in Italian population samples. Barbaro A, Phillips C, Fondevila M, Lareu M, Carracedo A. Forensic Sci Int Genet. Letter. 2012 Dec;6(6):e185-6. doi: 10.1016/j.fsigen.2012.07.002. Epub 2012 Jul 25.

SNPs as Supplements in Simple Kinship Analysis or as Core Markers in Distant Pairwise Relationship Tests: When Do SNPs Add Value or Replace Well-Established and Powerful STR Tests?. Phillips C, García-Magariños M, Salas A, Carracedo A, Lareu MV. Transfus Med Hemother. Article. 2012 Jun;39(3):202-210. Epub 2012 May 12.

Focus issue-Analysis and biostatistical interpretation of complex and low template DNA samples. Carracedo A, Schneider PM, Butler J, Prinz M. Forensic Sci Int Genet. Editorial material. 2012 Dec;6(6):677-8. doi: 10.1016/j.fsigen.2012.08.010. Epub 2012 Sep 19.

Forensic performance of two insertion-deletion marker assays. Fondevila M, Phillips C, Santos C, Pereira R, Gusmão L, Carracedo A, Butler JM, Lareu MV, Vallone PM. Int J Legal Med. Article. 2012 Sep;126(5):725-37. doi: 10.1007/s00414-012-0721-7. Epub 2012 Jun 20.

The value of genetic polymorphisms to predict toxicity in metastatic colorectal patients with irinotecan-based regimens. Lamas MJ, Duran G, Balboa E, Bernardez B, Candamio S, Vidal Y, Mosquera A, Giraldez JM, Lopez R, Carracedo A, Barros F. Cancer Chemother Pharmacol. Article. 2012 Jun;69(6):1591-9. Epub 2012 Apr 26.

Patterns of Y-STR variation in Italy. Brisighelli F, Blanco-Verea A, Boschi I, Garagnani P, Pascali VL, Carracedo A, Capelli C, Salas A. Forensic Sci Int Genet. Article. 2012 Dec;6(6):834-9. doi: 10.1016/j.fsigen.2012.03.003. Epub 2012 Apr 8.

Analysis of the SNPforID 52-plex markers in four Native American populations from Venezuela. Ruiz Y, Chiurillo MA, Borjas L, Phillips C, Lareu MV, Carracedo Á. Forensic Sci Int Genet. Article. 2012 Sep;6(5):e142-5. doi: 10.1016/j.fsigen.2012.02.007. Epub 2012 Mar 27.

Allele frequencies of 20 STRs from Northwest Spain (Galicia). Fernandez-Formoso L, Phillips C, Rodriguez A, Calvo R, Barbaro A, Lareu MV, Carracedo Á. Forensic Sci Int Genet. Letter. 2012 Sep;6(5):e149-50. doi: 10.1016/j.fsigen.2012.02.009. Epub 2012 Mar 17.

A new SNP assay for identification of highly degraded human DNA. Freire-Aradas A, Fondevila M, Kriegel AK, Phillips C, Gill P, Prieto L, Schneider PM, Carracedo A, Lareu MV. Forensic Sci Int Genet. Article. 2012 May;6(3):341-9. Epub 2011 Sep 9.

Analysis of a claimed distant relationship in a deficient pedigree using high density SNP data. Lareu MV, García-Magariños M, Phillips C, Quintela I, Carracedo A, Salas A. Forensic Sci Int Genet. Article. 2012 May;6(3):350-3. Epub 2011 Aug 24.

The recombination landscape around forensic STRs: Accurate measurement of genetic distances between syntenic STR pairs using HapMap high density SNP data. Phillips C, Ballard D, Gill P, Court DS, Carracedo A, Lareu MV. Forensic Sci Int Genet. Article. 2012 May;6(3):354-65. Epub 2011 Aug 25.

Linear interaction energy: method and applications in drug design. Gutiérrez-de-Terán H, Aqvist J. Methods Mol Biol. Journal article. 2012;819:305-23.

Characterization of the homodimerization interface and functional hotspots of the CXCR4 chemokine receptor. Rodríguez D, Gutiérrez-de-Terán H. Proteins. Article. 2012 Aug;80(8):1919-28. doi: 10.1002/prot.24099. Epub 2012 May 25.

Ligand-, structure- and pharmacophore-based molecular fingerprints: A case study on adenosine A(1), A (2A), A (2B), and A (3) receptor antagonists. Sirci F, Goracci L, Rodríguez D, van Muijlwijk-Koezen J, Gutiérrez-de-Terán H, Mannhold R. J Comput Aided Mol Des. Article. 2012 Nov;26(11):1247-66. doi: 10.1007/s10822-012-9612-8. Epub 2012 Oct 12. 2012 Oct 12. [Epub ahead of print].

Evidence of pre-roman tribal genetic structure in basques from uniparentally inherited markers. Martínez-Cruz B, Harmant C, Platt DE, Haak W, Manry J, Ramos-Luis E, Soria-Hernanz DF, Bauduer F, Salaberria J, Oyharçabal B, Quintana-Murci L, Comas D; Genographic Consortium. Mol Biol Evol. Article. 2012 Sep;29(9):2211-22. Epub 2012 Mar 12.

The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269. Busby GB, Brisighelli F, Sánchez-Diz P, Ramos-Luis E, Martinez-Cadenas C, Thomas MG, Bradley DG, Gusmão L, Winney B, Bodmer W, Vennemann M, Coia V, Scarnicci F, Tofanelli S, Vona G, Ploski R, Vecchiotti C, Zemunik T, Rudan I, Karachanak S, Toncheva D, Anagnostou P, Ferri G, Rapone C, Hervig T, Moen T, Wilson JF, Capelli C. Proc Biol Sci. Article. 2012 Mar 7;279(1730):884-92. Epub 2011 Aug 24.

A cautionary note on switching mitochondrial DNA reference sequences in forensic genetics. Salas A, Coble M, Desmyter S, Grzybowski T, Gusmão L, Hohoff C, Holland MM, Irwin JA, Kupiec T, Lee HY, Ludes B, Lutz-Bonengel S, Melton T, Parsons TJ, Pfeiffer H, Prieto L, Tagliabracci A, Parson W. Forensic Sci Int Genet. Letter. 2012 Dec;6(6):e182-4. doi: 10.1016/j.fsigen.2012.06.015. Epub 2012 Jul 25.

Toward a mtDNA locus-specific mutation database using the LOVD platform. Elson JL, Sweeney MG, Procaccio V, Yarham JW, Salas A, Kong QP, van der Westhuizen FH, Pitceathly RD, Thorburn DR, Lott MT, Wallace DC, Taylor RW, McFarland R. Hum Mutat. Article. 2012 Sep;33(9):1352-8. doi: 10.1002/humu.22118. Epub 2012 Jul 2.

Interdisciplinary approach to the demography of Jamaica. Deason ML, Salas A, Newman SP, Macaulay VA, St A Morrison EY, Pitsiladis YP. Bmc Evol Biol. Article. 2012 Feb 23;12:24.

Raising doubts about the pathogenicity of mitochondrial DNA mutation m.3308T>C in left ventricular hypertraveculation/noncompaction. Salas A, Elson JL. Cardiology. Letter. 2012;122(2):113-5. Epub 2012 Jul 7.

Current next generation sequencing technology may not meet forensic standards. Bandelt HJ, Salas A. Forensic Sci Int Genet. Article. 2012 Jan;6(1):143-5. Epub 2011 May 11.

Genetic characterization of Western Iberia using Mentype® Argus X-8 kit. Gelabert-Besada M, Ferreira S, García-Magariños M, Gusmão L, Sánchez-Diz P. Forensic Sci Int Genet. Letter. 2012 Jan;6(1):e39-41. Epub 2011 Apr 16.

Clinical correlates of apathy in patients recently diagnosed with Parkinson’s disease: the ANIMO study. Cubo E, Benito-León J, Coronell C, Armesto D; ANIMO Study Group (López-González FJ, Rodríguez-Osorio X, Arias-Rivas S). Neuroepidemiology. Article. 2012;38(1):48-55. Epub 2012 Jan 6.

Impact of apathy on health-related quality of life in recently diagnosed Parkinson’s disease: the ANIMO study. Benito-León J, Cubo E, Coronell C; ANIMO Study Group (López-González FJ, Rodríguez-Osorio X, Arias-Rivas S). Mov Disord. Article. 2012 Feb;27(2):211-8. doi: 10.1002/mds.23872. Epub 2011 Jul 20.

Late-onset systemic lupus erythematosus in Northwestern Spain: differences with early-onset systemic lupus erythematosus and literature review. Alonso MD, Martinez-Vazquez F, de Teran TD, Miranda-Filloy JA, Dierssen T, Blanco R, Gonzalez-Juanatey C, Llorca J, Gonzalez-Gay MA. Lupus. Review. 2012 Sep;21(10):1135-48. doi: 10.1177/0961203312450087. Epub 2012 May 31.

First SCA36 patients in Europe: clinical, physiological and imaging details of 10 families. Arias, M.; Garcia-Murias, M.; Quintans, B.; Arias-Rivas, S.; Pardo, J; Vazquez, F.; Dapena, D.; Cacheiro, P.; Blanco-Arias, P.; Carracedo, A. y Sobrido, M.J. Eur J Neurol. Meeting abstract. 2012 Sep; Volume: 19 Special Issue: SI Supplement: 1 Pages: 41-41.

Diagnosis of Charcot Marie Tooth disease in patients with chronic inflammatory demyelinating polyneuropathy: report of two cases. Pardo, J.; Costa-Arpin, E.; Blanco-Arias, P.; Sobrido, MJ.; Garcia-Sobrino, T. y Santamaria-Cadavid, M. Eur J Neurol. Meeting abstract. 2012 Sep; Volume: 19 Special Issue: SI Supplement: 1 Pages: 788-788.

Successful treatment of hypokalemic periodic paralysis with topiramate. Pardo, J.; Garcia-Sobrino, T.; Barros, F.; Quintans, B.; Sobrido, MJ. y Lopez-Ferreiro, A. Eur J Neurol. Meeting abstract. 2012 Sep; Volume: 19 Special Issue: SI Supplement: 1 Pages: 381-381.

Validation study of genetic factors contributing to Parkinson’s disease in Spanish and Latin American populations. Sesar, A.; Cacheiro, P.; Camina-Tato, M.; Lopez, M.; Quintans, B.; Alonso, E.; Cebrian, E.; Castro, A.; Carracedo, A. y Sobrido, MJ. Eur J Neurol. Meeting abstract. 2012 Sep; Volume: 19 Special Issue: SI Supplement: 1 Pages: 307-307.

Successful outcome of episodes of status epilepticus after vagus nerve stimulation: a multicenter study. Sierra-Marcos A, Maestro I, Rodríguez-Osorio X, Miró J, Donaire A, Aparicio J, Rumiá J, Forcadas M, Garamendi I, Pardo J, López J, Prieto Á, Plans G, Falip M, Carreño M. Eur J Neurol. Article. 2012 Sep;19(9):1219-23. doi: 10.1111/j.1468-1331.2012.03707.x. Epub 2012 Mar 26.

Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases. Martinez-Delgado B, Yanowsky K, Inglada-Perez L, de la Hoya M, Caldes T, Vega A, Blanco A, Martin T, Gonzalez-Sarmiento R, Blasco M, Robledo M, Urioste M, Song H, Pharoah P, Benitez J. J Med Genet. Article. 2012 May;49(5):341-4. Epub 2012 Apr 6.

ENIGMA–evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA (Vega, A.; Blanco, A.; Santamariña, M.; Fachal, L.). Hum Mutat. Article. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3.

Variable expression of naevoid basal cell carcinoma syndrome in a family with a novel mutation in the PTCH1 gene. Alonso-González J, Gutiérrez-González E, Fernández-Redondo V, Vega-Gliemmo A, Toribio J. Clin Exp Dermatol. Letter. 2012 Apr;37(3):311-3. doi: 10.1111/j.1365-2230.2011.04209.x. Epub 2011 Oct 18.

The discoidin domain receptor 1 gene has a functional A2RE sequence. Roig B, Moyano S, Martorell L, Costas J, Vilella E. J Neurochem. Article. 2012 Feb;120(3):408-18. doi: 10.1111/j.1471-4159.2011.07580.x. Epub 2011 Dec 6.

Is neuroticism a risk factor for postpartum depression?. Martín-Santos R, Gelabert E, Subirà S, Gutierrez-Zotes A, Langorh K, Jover M, Torrens M, Guillamat R, Mayoral F, Canellas F, Iborra JL, Gratacos M, Costas J, Gornemann I, Navinés R, Guitart M, Roca M, DE Frutos R, Vilella E, Valdés M, Esteve LG, Sanjuan J. Psychol Med. Letter. 2012 Jul;42(7):1559-65. doi: 10.1017/S0033291712000712. No abstract available.

RNA/DNA co-analysis from blood stains–results of a second collaborative EDNAP exercise. Haas C, Hanson E, Anjos MJ, Bär W, Banemann R, Berti A, Borges E, Bouakaze C, Carracedo A, Carvalho M, Castella V, Choma A, De Cock G, Dötsch M, Hoff-Olsen P, Johansen P, Kohlmeier F, Lindenbergh PA, Ludes B, Maroñas O, Moore D, Morerod ML, Morling N, Niederstätter H, Noel F, Parson W, Patel G, Popielarz C, Salata E, Schneider PM, Sijen T, Sviežena B, Turanská M, Zatkalíková L, Ballantyne J. Forensic Sci Int Genet. Article. 2012 Jan;6(1):70-80. doi: 10.1016/j.fsigen.2011.02.004. Epub 2011 Apr 2.

Epileptc aphasia: A description of 10 new cases. Lopez-Ferreiro, A.; Rodriguez-Osorio, X.; Fernandez-Ferro, JC.; Garcia-Sobrino, T.; Rodriguez-Yanez, M.; Arias, M.; Pardo, J.; Corredera, E.; Lopez-Gonzalez, FJ . Epilepsia. Meeting abstract. 2012 Sep; Volume: 53 Special Issue: SI Supplement: 5 Pages: 93-94.

Uniparental markers of contemporary italian population reveals details on its pre-roman heritage. Brisighelli F, Alvarez-Iglesias V, Fondevila M, Blanco-Verea A, Carracedo A, Pascali VL, Capelli C, Salas A. PLoS One. Article. 2012;7(12):e50794. doi: 10.1371/journal.pOne.0050794. Epub 2012 Dec 10.

Evaluating methods to correct for population stratification when estimating paternity indexes. Toscanini U, Garcia-Magariños M, Berardi G, Egeland T, Raimondi E, Salas A. PLoS One. Article. 2012;7(11):e49832. doi: 10.1371/journal.pOne.0049832. Epub 2012 Nov 30.

Cigarette smoking and subtypes of bladder cancer. Jiang X, Castelao JE, Yuan JM, Stern MC, Conti DV, Cortessis VK, Pike MC, Gago-Dominguez M. Int J Cancer. Article. 2012 Feb 15;130(4):896-901. doi: 10.1002/ijc.26068. Epub 2011 May 9.

Personal hair dye use and the risk of bladder cancer: a case-control study from The Netherlands. Ros MM, Gago-Dominguez M, Aben KK, Bueno-de-Mesquita HB, Kampman E, Vermeulen SH, Kiemeney LA. Cancer Causes Control. Article. 2012 Jul;23(7):1139-48. doi: 10.1007/s10552-012-9982-1. Epub 2012 May 13.