MEDICINA XENÓMICA - imaisd.usc.esimaisd.usc.es/ftp/oit/gruposinvestigacion/GI-1736_G.pdfMata...

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Catálogo de Grupos de Investigación Centro de Innovación e Transferencia de Tecnoloxía http://imaisd.usc.es/ [email protected] Catálogo de Investigadores e Grupos de Investigación MEDICINA XENÓMICA (Última actualización 25/09/2013) Código: GI-1736 Departamento: Anatomía Patolóxica e Ciencias Forenses Instituto: Instituto de Ciencias Forenses "Luis Concheiro" Web: xenomica.org Contacto: Carracedo Álvarez, Ángel María [email protected] Telf. 981-563100 ext.12215 Centro de Innovación e Transferencia de Tecnoloxía [email protected] Telf.: 981-547000 Liñas de Investigación - Xenética forense - Xenética de poboacións humanas - Análisis de bases de datos xenómicas - Xenética de poboacións aplicada a biomedicina (enfermedades simples e complexas) - Antropoloxía molecular - Bioinformática - ADN antigo - Xenética do cancro (particularmente cancro hereditario y esporádico de colon e mama) - Xenética de enfermedades psiquiátricas - Xenética en oftamoloxía - Xenética de outras enfermedades xenéticas Páxina 1/26

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Page 1: MEDICINA XENÓMICA - imaisd.usc.esimaisd.usc.es/ftp/oit/gruposinvestigacion/GI-1736_G.pdfMata Noya,S.M. PA Mosquera Miguel,A. PA Muñíz Pérez,S.M. PA Pastoriza Mourelle,A.M. PA Phillips,C.

Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Catálogo de Investigadores eGrupos de Investigación

MEDICINA XENÓMICA

(Última actualización 25/09/2013)

Código: GI-1736Departamento: Anatomía Patolóxica e Ciencias ForensesInstituto: Instituto de Ciencias Forenses "Luis Concheiro"Web: xenomica.orgContacto:Carracedo Álvarez, Ángel María

[email protected]. 981-563100 ext.12215

Centro de Innovación e Transferencia de Tecnoloxía [email protected]

Telf.: 981-547000

Liñas de Investigación

- Xenética forense

- Xenética de poboacións humanas

- Análisis de bases de datos xenómicas

- Xenética de poboacións aplicada a biomedicina (enfermedades simples e complexas)

- Antropoloxía molecular

- Bioinformática

- ADN antigo

- Xenética do cancro (particularmente cancro hereditario y esporádico decolon e mama)

- Xenética de enfermedades psiquiátricas

- Xenética en oftamoloxía

- Xenética de outrasenfermedades xenéticas

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

- Farmacoxenética y farmacoxenómica

- Fecundación in vitro e diagnóstico prenatal

- Xenética evolutiva

- Evolución xenómica

- Evolución molecular

- Xenotipado de SNPs e polimorfismos do ADN con técnicas de high-throughput

- Xenética de enfermedades neurolóxicas

- Inestabilidade mitocondrial en tumorogenesis

- Enfermedades mitocondriales e enfermedades complexas asociadas o ADN mitocondrial

- Seucuenciación de alto rendemento (NGS).

Servizos e Recursos

- Dous laboratorios de investigación de 200 e 550 metros cuadrados situados na Facultade deMedicina e na Fundación Pública Galega de Medicina Xenómica (Hospital Clínico). Conteñen todoos recursos estructurales e técnicas necesarias para a realización de estudios genéticos exenómicos de teóricos e aplicados do máximo nivel. En total dispoñen de 8 secuenciadores(incluindo ABI3730, ABI3100, Megabace), termocicladores, sistemas de PCR en tempo real, eas facilidades do Centro Nacional de Xenotipado (CeGen) que comprende duas plataformas dexenotipado de SNPs , una de OLA e PCR (SNPlex Genotyping System) e outra basada enespectrometría de masas MALDITOF MS (Sequenom Mass Array System). Equipamento tamén para o estudio de DNA antigo ou de baixo número de copias.

Palabras chave

Polimorfismos do ADN; Polimorfismos nucleotídicos simples (SNPs); microsatélites; ADNmitocondrial; genética de poboacións; genética forense; DNA antigo; cancro de mama; cancro decolon; cancro hereditario; xenéticaoftalmológica; reumatoloxía molecular; enfermedades inflamatorias; fecundaciónin vitro; xenética de enfermedades complexas; xenética evolutiva; evolución molecular; evoluciónxenómica; bioinformática; xenotipado de SNPs; xenética de enfermedades psiquiátricas; ultrasecuenciación; exomas

Investigadores

Nome CargoCarracedo Álvarez,Á.M. CoordinadorLareu Huidobro,M.V. MembroMaside Rodríguez,J.M. MembroSalas Ellacuriaga,A. MembroTabernero Duque,M.J. MembroAbal Fabeiro,J.L. IFPArcanjo Dos Santos,C.I. IFPBlanco Pérez,A. IFPCárdenas Paredes, J. IFPCastillo Leon, L. IFPCoelho Neves Gonçalves,Ó.F. IFPFachal Vilar,L. IFP

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

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Freire Aradas,A.M. IFPGabín García,L.B. IFPGago Díaz,M. IFPGarcía Murias,M. IFPGelabert Besada,M. IFPGÓMEZ MORACHO, T. IFPGonzález Peñas, J. IFPHeinz,T.M. IFPMaroñas Amigo,O. IFPMartínez Calvo,L. IFPMartínez Regueiro, R. IFPMuhammad,N. IFPOrdóñez Ugalde,A.E. IFPPardo Seco, J. IFPPuente Vila, M. IFPQuintela García,I. IFPRamos Luís,E. IFPRey González,D. IFPSalazar Garcia, I. IFPSantori Gómez,M. IFPSoares Sampaio, A. IFPSöchtig,J. IFPSuárez Rama,J.J. IFPYáñez Torregroza, Z. IFPÁlvarez Iglesias,V. PAAmigo Lechuga,J. PACacheiro Martínez,P. PACamiña Tato,M. PADosil Santiago,M.d. PAFondevila Álvarez,M. PAMartínez Matilla,M. PAMata Noya,S.M. PAMosquera Miguel,A. PAMuñíz Pérez,S.M. PAPastoriza Mourelle,A.M. PAPhillips,C. PARodríguez López,A. PASande Landeira,E. PATorres Español,M. PA

Colaboradores externosNome InstituciónFrancisco Barros Angueira Fundación Pública Galega de Medicina XenómicaAna Paula Vega Gliemmo Fundación Pública Galega de Medicina XenómicaClara María Ruiz Ponte Fundación Pública Galega de Medicina XenómicaM. Jesús Sobrido Gómez Fundación Pública Galega de Medicina XenómicaBeatriz Quintás Castro Instituto de Investigacion Sanitaria de SantiagoJavier Costas Costas Instituto de Investigacion Sanitaria de SantiagoMonserrat Fernández Prieto Fundación Pública Galega de Medicina XenómicaMaría José Brión Martínez Instituto de Investigacion Sanitaria de SantiagoRosanna Abal García Fundación Pública Galega de Medicina XenómicaMontserrat Santori Gómez CibererJosé Javier Suárez Rama Fundación Pública Galega de Medicina XenómicaAlejandro José Blanco Verea Instituto de Investigacion Sanitaria de SantiagoAlejandro José Brea Fernández CIbererRaquel Cruz Guerrero CibererHugo Gutiérrez de Terán Castañón Fundación Pública Galega de Medicina XenómicaPatricia Blanco Arias Fundación Pública Galega de Medicina XenómicaBeatriz Sobrino Rey Instituto de Investigacion Sanitaria de Santiago

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Narenkha Franjo Pérez Fundación Pública Galega de Medicina XenómicaManuela Gago Dominguez Fundación Pública Galega de Medicina XenómicaRamón Manuel Lago Lestón Fundación Pública Galega de Medicina XenómicaSandra Fernández Novo Instituto de Investigacion Sanitaria de SantiagoRocio Gil Torres Instituto de Investigacion Sanitaria de SantiagoMarta Santamariña Pena CIbererCatuxa Celeiro Muñoz Fundación Pública Galega de Medicina XenómicaJose Luis Santomé Collazo Fundación Pública Galega de Medicina XenómicaJulio Rodríguez López Fundación Pública Galega de Medicina XenómicaRaquel Calvo Bermúdez Instituto de Investigacion Sanitaria de SantiagoMaría Pouso Ríos Fundación Pública Galega de Medicina Xenómica

PROXECTOS DE INVESTIGACIÓN 2009 - 2013Título: The Human Early-Life Exposome - novel tools for integrating early-life environmental exposures andchild health across Europe (HELIX)Tipo: (PI) Programas InternacionaisFechas: 01/01/2013 - 30/06/2017Investigador principal: Carracedo Álvarez, Ángel María

Título: Proyecto integrado para el análisis FORense del genoma MItocondrial en GAlicia (Proxectos deGrupos Emerxentes).Tipo: (PG) Plan GalegoFechas: 26/06/2012 - 25/06/2015Investigador principal: Salas Ellacuriaga, Antonio

Título: European Forensic Genetics Network of Excelellence (EUROFORGEN-NoE)Tipo: Contratos coa UEFechas: 01/01/2012 - 31/12/2016Investigador principal: Carracedo Álvarez, Ángel María

Título: SURGENDIS: Apellidos, genes y enfermedad. Estudio genómico de relaciones de parentescolejanas en poblaciones humanas e implicaciones biomédicas.Tipo: Plan NacionalFechas: 01/01/2012 - 31/12/2014Investigador principal: Salas Ellacuriaga, Antonio

Título: A European Initial Training Network on the History, Archaeology, and New Genetics of theTrans-Atlantic Slave Trade (EUROTAST)Tipo: Contratos coa UEFechas: 01/11/2011 - 31/10/2015Investigador principal: Salas Ellacuriaga, Antonio

Título: RESAC (Resistencia a la aspirina y al clopidogrel). Farmacogenética de antiagregantes plaquetarios.Tipo: Outros Proxectos NacionaisFechas: 15/12/2010 - 14/12/2013Investigador principal: Carracedo Álvarez, Ángel María

Título: Sharing capacity across Europe in high-throughput sequencing technology to explore genetic

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

variation in health and disease (GEUVADIS)Tipo: Contratos coa UEFechas: 01/10/2010 - 31/12/2013Investigador principal: Carracedo Álvarez, Ángel María

Título: Desenvolvemento dun protocolo multilocus para o tipado xenético de alto rendemento dasvariedades de giardia que parasitan humanosTipo: Proxectos XuntaFechas: 08/08/2010 - 30/09/2013Investigador principal: Maside Rodríguez, Julio Manuel

Título: Desenrrolo de novas tecnoloxía para identificación xenética en tempo real na escena de atentadosterroristas ou grandes catastrofes.-DetectTipo: Proxectos XuntaFechas: 13/07/2009 - 01/12/2012Investigador principal: Lareu Huidobro, María Victoria

Título: Genetic study of Common Hereditary Bowel Cancers in Hispania and the Americas (CHIBCHA)Tipo: Contratos coa UEFechas: 01/06/2009 - 31/05/2013Investigador principal: Carracedo Álvarez, Ángel María

Clientes e socios tecnolóxicos- Centro de Investigación Biomédica en Red de Salud Mental- Consellería de Sanidade- Fundació Clínic per a la Recerca Biomèdica- Fundación Genoma España- Genomed-Diagnósticos de Medicina Molecular, S.A.- Genomix, Genetics and Health, S.L.- Hospital Universitario de Salamanca- Instituto de Salud Carlos III- PARTICULAR- Servizo Galego de Saúde- Universidad del Cauca- Universidad Simón Bolívar- University of California- Varias entidades

PRODUCCIÓN CIENTÍFICA 2007 - 2011Artigos en revistas científicasArtigo:

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).Revista: INTERNATIONAL JOURNAL OF DERMATOLOGY, ISSN: 0011-90592007

Artigo:

Estudios de asociación en enfermedades complejas: problemas estadísticos relacionados con elanálisis de polimorfismos genéticos

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

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Revista: REVISTA CLINICA ESPANOLA, ISSN: 0014-25652007

Artigo:

Finding genes that underlie physical traits of forensic interest using genetic toolsRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382007

Artigo:

Forensic validation of the SNPforID 52-plex assayRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382007

Artigo:

Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPsRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382007

Artigo:

Evaluation of the genplex SNP typing system and a 49plex forensic marker panelRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382007

Artigo:

Genetic data of 10 X-STRs in a Spanish population sampleRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382007

Artigo:

Distorted mitochondrial DNA sequences in schizophrenic patientsRevista: EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN: 1018-48132007

Artigo:

The search of novel mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a riskfactorRevista: INTERNATIONAL JOURNAL OF CARDIOLOGY, ISSN: 0167-52732007

Artigo:

High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysisof LHON patientsRevista: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ISSN: 0006-291X2007

Artigo:

Clinical and molecular characterization of Wilson disease in Spanish patientsRevista: HEPATOLOGY RESEARCH, ISSN: 1386-63462007

Artigo:

Y chromosome genetic variation in the Italian peninsula is clinal and supports an admixture model forthe Mesolithic Neolithic encounter

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Revista: MOLECULAR PHYLOGENETICS AND EVOLUTION, ISSN: 1055-79032007

Artigo:

Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancerRevista: MOLECULAR PHYLOGENETICS AND EVOLUTION, ISSN: 1055-79032007

Artigo:

A Bidirectional corridor in the Sahel-Sudan Belt and the Distinctive features of the Chad BasinPopulations: a history revealed by the mitochondrial DNA GenomeRevista: ANNALS OF HUMAN GENETICS, ISSN: 0003-48002007

Artigo:

Phylogenetic evidence for multiple independent duplication events at he DYS19 locusRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382007

Artigo:

Extensive linkage disequilibrium mapping at HTR2A and DRD3 for schizophrenia susceptibility genesin the Galician populationRevista: Schizophrenia research, ISSN: 0920-99642007

Artigo:

Multiplex SNaPshot for detection of BRCA 1/2 common mutations in Spanish and Spanish relatedbreast/ovarian cancer familiesRevista: BMC Medical Genetics, ISSN: 1471-23502007

Artigo:

Genetic analysis of three US population groups using an X-chromosomal STR decaplexRevista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, ISSN: 0937-98272007

Artigo:

Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomalrecessive retinitis pigmentosa and leber congenital amaurosisRevista: HUMAN MUTATION, ISSN: 1059-77942007

Artigo:

Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 non theirgenetic interactionRevista: JOURNAL OF PSYCHIATRIC RESEARCH, ISSN: 0022-39562007

Artigo:

Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullarythyroid carcinomaRevista: CANCER RESEARCH, ISSN: 0008-54722007

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Artigo:

Comment on Global Genetic Ghange Tracks Global Climate Warming in Drosophila subobscuraRevista: SCIENCE, ISSN: 0036-80752007

Artigo:

Resolving relationship tests that show ambigous STR results using autosomal SNPs assupplementary markersRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

The Pokemon (ZBTB7) Gene: No eivdence of association with sporadic breast cancerRevista: CLINICAL MEDICINE, ISSN: 1470-21182008

Artigo:

The mtDNA ancestry of admixed colombian populationsRevista: AMERICAN JOURNAL OF HUMAN BIOLOGY, ISSN: 1042-05332008

Artigo:

Recent adaptive selection at MAOB and ancestral susceptibility to schizophreniaRevista: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, ISSN: 1552-48412008

Artigo:

The SNPforID browser: an online tool for query and display of frequency data from the SNPforIDprojectRevista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, ISSN: 0937-98272008

Artigo:

Gender bias in the multiethnic genetic composition of central ArgentinaRevista: JOURNAL OF HUMAN GENETICS, ISSN: 1434-51612008

Artigo:

Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor theirgenetic interactionRevista: JOURNAL OF PSYCHIATRIC RESEARCH, ISSN: 0022-39562007

Artigo:

Analyses of variants located in estrogen metabolism genes (ESR1, ESR2, COMT and APOE) andschizophreniaRevista: SCHIZOPHRENIA RESEARCH, ISSN: 0920-99642007

Artigo:

Methylenetetrahydrofolate reductse gene, homoocysteine and coronary artery disease: the A1298Cpolymorphism does matter. Inferences from a case study (Madeira, Portugal)

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Revista: THROMBOSIS RESEARCH, ISSN: 0049-38482008

Artigo:

The brave new era of human genetic testingRevista: BIOESSAYS, ISSN: 0265-92472008

Artigo:

Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in CubaRevista: BMC EVOLUTIONARY BIOLOGY, ISSN: 1471-21482008

Artigo:

Minisequencing mitochondrial DNA pathogenic mutationsRevista: BMC Medical Genetics, ISSN: 1471-23502008

Artigo:

Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: atwo-stage spanish case-control studyRevista: GYNECOLOGIC ONCOLOGY, ISSN: 0090-82582008

Artigo:

Y chromosome microsatellite genetic variation in two Native American populations from Argentina:population stratification and mutation dataRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Resolving relationship test that show ambiguous STR results using autosomal SNPs assupplementary markersRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

The search of novel mtDNA mutations in hypertropyhic cardiomyopathy MITOMAPing as a risk factorRevista: INTERNATIONAL JOURNAL OF CARDIOLOGY, ISSN: 0167-52732008

Artigo:

2006 GEP-ISFG collaborative exercise on mtDNA: reflections about interpretation, artefacts, andDNA mixturesRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Identification of west eurasian mitochondrial haplogroups by mtDNA SNP screening: results of the2006-2007 EDNAP collaborative exerciseRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Artigo:

Results of th GEP-ISFG collaborative study on an X-STR decaplexRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

GEP-SSFG proficiency testing programs: 2007 updateRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Genetic characterization of 52 autosomal SNPs in the Portuguese populationRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

The genetic legacy of religious diversity and intolerance: paternal lineages of christians, jews, andmuslims in th iberian peninsulaRevista: AMERICAN JOURNAL OF HUMAN GENETICS, ISSN: 0002-92972008

Artigo:

Forensic typing of autosomal SNPs with a 29 SNP -multiplex- results of a collaborative EDNAPexerciceRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

16 STR data of a Greek populationRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Genetic polymorphism of 15 STR loci in central western ColombiaRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Exploring mitochondrial DNA variation in th Italian PeninsulaRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Genetic characterization of 52 autosomal SNPs in two sub-Saharan African populationsRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Report on ISFG SNP Panel DiscussionRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

The distribution of Y-chromosome STRs in Dominican populationRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

The distribution of allele frequencies of 15 STRs in Dominican population Revista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Forensic validation of th Genplex SNP typing system -Results of an inter-laboratoy studyRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Forensic validation and implementation of Y-chromosome SNP multiplexesRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Large scale analysis of HCM mutations in sudden cardiac deathRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Challenging DNA: assessment of a range of genotyping approaches for highly degraded forensicsamplesRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

A simulation based approach to evaluate population strafication in ArgentinaRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

A common haplotype of DRD3 affected by recent positive selection is associated with protection fromschizophreniaRevista: HUMAN GENETICS, ISSN: 0340-67172008

Artigo:

SPSmart: adapting population based SNP genotype databases for fast and comprehensive webaccessRevista: BMC BIOINFORMATICS, ISSN: 1471-21052008

Artigo:

Cognitive functioning in Williams Syndrome: a study in Portuguese and Spanish patientsRevista: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, ISSN: 1090-37982008

Artigo:

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Increasing the discrimination power of the mtDNA test through the analysis of a large set ofhaplogroup H coding region SNPs: Forensic applications and validationRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe andMiddle EastRevista: BMC EVOLUTIONARY BIOLOGY, ISSN: 1471-21482008

Artigo:

molecular genetics of suddeen cardiac deathRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382008

Artigo:

The phylogeny of the four pan-american MtDNA harplogroups: implications for evolutionary diseasestudiesRevista: PLoS Genetics, ISSN: 1553-73902008

Artigo:

Distilling artificial recombinants from large sets of complete mtDNA genomesRevista: PLoS Genetics, ISSN: 1553-73902008

Artigo:

Genetic variability of the SNPforID 52-plex identification-SNP panel in Central West ColombiaRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382009

Artigo:

Applications of MALDI-TOF MS to large-scale human mtDNA population-based studiesRevista: ELECTROPHORESIS, ISSN: 0173-08352009

Artigo:

Molecular diversity at the CYP2D6 locus in healthy and schizophrenic southern BraziliansRevista: PHARMACOGENOMICS, ISSN: 1462-24162009

Artigo:

Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequatedatabase searchesRevista: HUMAN MUTATION, ISSN: 1059-77942009

Artigo:

Allele frequencies of fifteen STRs in a representative sample of the Italian population Revista: Forensic Science International-Genetics, ISSN: 1872-49732009

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Artigo:

Distinctive Paleo-Indian Migration Routes from Beringia Marked by Two Rare mtDNA HaplogroupsRevista: CURRENT BIOLOGY, ISSN: 0960-98222009

Artigo:

The genetic male component of two South-Western Colombian populationsRevista: Forensic Science International-Genetics, ISSN: 1872-49732009

Artigo:

Widespread evidence for horizontal transfer of transposable elements across Drosophila genomesRevista: GENOME BIOLOGY, ISSN: 1474-760X2009

Artigo:

WITHDRAWN: A collaborative study of the EDNAP group regarding Y-chromosome binarypolymorphism analysisRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382009

Artigo:

Evaluating the Ability of Tree-Based Methods and Logistic Regression for the Detection of SNP-SNPInteractionRevista: ANNALS OF HUMAN GENETICS, ISSN: 0003-48002009

Artigo:

Median network analysis of defectively sequenced entire mitochondrial genomes from early andcontemporary disease studiesRevista: HUMAN GENETICS, ISSN: 0340-67172009

Artigo:

A C-Terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in thepathophysiology of rapid-onset dystonia-parkinsonismRevista: HUMAN MOLECULAR GENETICS, ISSN: 0964-69062009

Artigo:

the demographic history of african farmers and pygmy hunter-gatherers using a multilocusresequencing data seRevista: PLoS Genetics, ISSN: 1553-73902009

Artigo:

Viability of in-house datamarting approaches for population genetics analysis of SNP genotypesRevista: BMC BIOINFORMATICS, ISSN: 1471-21052009

Artigo:

Prevalence of CYP2C9 polymorphisms in the south of EuropeRevista: PHARMACOGENOMICS JOURNAL, ISSN: 1470-269X

Páxina 13/26

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

2009

Artigo:

Contamination and sample mix-up can best explain some patterns of mtDNA instabilities in buccalcells and oral squamous cell carcinomaRevista: BMC CANCER, ISSN: 1471-24072009

Artigo:

Population data on 15 autosomal STRs in a sample from ColombiaRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382009

Artigo:

Recent adaptive selection at MAOB and ancestral susceptibility to schizophreniaRevista: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, ISSN: 1552-48412009

Artigo:

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: adifferent spectrum of mutations?Revista: BMC Medicine, ISSN: 1741-70152009

Artigo:

Association of common copy number variants at the glutathione S-transferase genes and rare novelgenomic changes with schizophreniaRevista: MOLECULAR PSYCHIATRY, ISSN: 1359-41842009

Artigo:

Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans andchimpanzees: sequence variation, repeat structure, and nomenclatureRevista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, ISSN: 0937-98272009

Artigo:

Population stratification in Argentina strongly influences likelihood ratio estimates in paternity testingas revealed by a simulation-based approachRevista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, ISSN: 0937-98272009

Artigo:

A common haplotype of DRD3 affected by recent positive selection is associated with protection fromschizophreniaRevista: HUMAN GENETICS, ISSN: 0340-67172009

Artigo:

The Etruscan timeline: a recent Anatolian connectionRevista: EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN: 1018-48132009

Páxina 14/26

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Artigo:

Testing the performance of mtSNP minisequencing in forensic samplesRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382009

Artigo:

The Karimojong from Uganda: genetic characterization using an X-STR decaplex systemRevista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382009

Artigo:

Cognitive functioning in Williams syndrome: a study in Portuguese and Spanish patientsRevista: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, ISSN: 1090-37982009

Artigo:

mtDNA data mining in GenBank needs surveyingRevista: AMERICAN JOURNAL OF HUMAN GENETICS, ISSN: 0002-92972009

Artigo:

Identification of new putative susceptibility genes for several psychiatric disorders by associationanalysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission andneurodevelopmentRevista: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, ISSN: 1552-48412009

Artigo:

X-chromosome STR sequence variation, repeat structure, and nomenclature in humans andchimpanzeesRevista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, ISSN: 0937-98272009

Artigo:

A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian andLatin American populationsRevista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, ISSN: 0937-98272009

Artigo:

Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: atwo-stage Spanish case-control studyRevista: GYNECOLOGIC ONCOLOGY, ISSN: 0090-82582009

Artigo:

Association of MUTYH and MSH6 germline mutations in colorectal cancer patientsRevista: Familial Cancer, ISSN: 1389-96002009

Artigo:

Ancestry analysis in the 11-M Madrid bomb attack investigationRevista: PLoS One, ISSN: 1932-6203

Páxina 15/26

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

2009

Artigo:

Phenotypic characterization of Noonan syndrome and abnormalities of the GH-IGF1 axis.Revista: HORMONE RESEARCH, ISSN: 0301-01632010

Artigo:

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.Revista: ELECTROPHORESIS, ISSN: 0173-08352010

Artigo:

A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwidepopulation groups.Revista: PLoS One, ISSN: 1932-62032010

Artigo:

A Strong Genetic Association between the Tumor Necrosis Factor Locus and ProliferativeVitreoretinopathy: The Retina 4 Project.Revista: OPHTHALMOLOGY, ISSN: 0161-64202010

Artigo:

A multi-perspective view of genetic variation in CameroonRevista: AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, ISSN: 0002-94832010

Artigo:

An X-chromosome pentaplex in two linkage groups: haplotype data in Alagoas and Rio de Janeiropopulations from Brazil.Revista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-07382010

Artigo:

Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations inTP53 and PTENRevista: CLINICAL GENETICS, ISSN: 0009-91632010

Artigo:

COGENT (COlorectal cancer GENeTics): an international consortium to study the role ofpolymorphic variation on the risk of colorectal cancerRevista: BRITISH JOURNAL OF CANCER, ISSN: 0007-09202010

Artigo:

Colorectal Cancer Susceptibility Quantitative Trait Loci in Mice as a Novel Approach to DetectLow-Penetrance Variants in Humans: A Two-Stage Case-Control StudyRevista: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, ISSN: 1055-99652010

Páxina 16/26

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Artigo:

Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemiariskRevista: NATURE GENETICS, ISSN: 1061-40362010

Artigo:

Digging deeper into East African human Y chromosome lineagesRevista: HUMAN GENETICS, ISSN: 0340-67172010

Artigo:

Genetic profile characterization of 10 X-STRs in four populations of the southeastern region of Brazil.Revista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, ISSN: 0937-98272010

Artigo:

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility toage-related macular degenerationRevista: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN: 0027-84242010

Artigo:

Genome-wide association study identifies variants in the CFH region associated with hostsusceptibility to meningococcal diseaseRevista: NATURE GENETICS, ISSN: 1061-40362010

Artigo:

Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitispigmentosa: homology with the nmf28/nmf28 mice model.Revista: CLINICAL GENETICS, ISSN: 0009-91632010

Artigo:

Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy.Revista: ANNALS OF CLINICAL AND LABORATORY SCIENCE, ISSN: 0091-73702010

Artigo:

Journal updateRevista: Forensic Science International-Genetics, ISSN: 1872-49732010

Artigo:

Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of theTuareg nomads from the African SahelRevista: EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN: 1018-48132010

Artigo:

New technologies in the genetic approach to sudden cardiac death in the young.Revista: FORENSIC SCIENCE INTERNATIONAL, ISSN: 0379-0738

Páxina 17/26

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

2010

Artigo:

Nilotes from Karamoja, Uganda: haplotype data defined by 17 Y-chromosome STRs.Revista: Forensic Science International-Genetics, ISSN: 1872-49732010

Artigo:

Nucleotide variation in central nervous system genes among male suicide attemptersRevista: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, ISSN: 1552-48412010

Artigo:

Pharmacogenetic analysis in neoadjuvant chemoradiation for rectal cancer: high incidence ofsomatic mutations and their relation with response.Revista: PHARMACOGENOMICS, ISSN: 1462-24162010

Artigo:

Pharmacogenetic studies on the antipsychotic treatment. Current status and perspectives.Revista: ACTAS ESPANOLAS DE PSIQUIATRIA, ISSN: 1139-92872010

Artigo:

Population stratification in Argentina strongly influences likelihood ratio estimates in paternity testingas revealed by a simulation-based approachRevista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, ISSN: 0937-98272010

Artigo:

Publication of population data for forensic purposesRevista: Forensic Science International-Genetics, ISSN: 1872-49732010

Artigo:

Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in aSpanish cohort.Revista: PLoS One, ISSN: 1932-62032010

Artigo:

Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype.Revista: GASTROENTEROLOGY, ISSN: 0016-50852010

Artigo:

The Garífuna (Black Carib) people of the Atlantic coast of Honduras: Population dynamics, structure,and phylogenetics relations inferred from genetic data, migration matrices, and isonymyRevista: AMERICAN JOURNAL OF HUMAN BIOLOGY, ISSN: 1042-05332010

Artigo:

Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influenceschronic lymphocytic leukaemia risk.

Páxina 18/26

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Revista: BRITISH JOURNAL OF HAEMATOLOGY, ISSN: 0007-10482010

Artigo:

Y-chromosome lineages in native South American populationRevista: Forensic Science International-Genetics, ISSN: 1872-49732010

Artigo:

Genetic association study of age-related macular degeneration in the Spanish populationRevista: ACTA OPHTHALMOLOGICA, ISSN: 1755-375X2011

Artigo:

Male lineages in South American native groups: Evidence of M19 traveling southRevista: AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, ISSN: 0002-94832011

Artigo:

Early Y chromosome lineages in Africa: the origin and dispersal of Homo sapiensRevista: AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, ISSN: 0002-94832011

Artigo:

CYP2D6 genotyping by liquid chromatography-electrospray ionization mass spectrometryRevista: ANALYTICAL AND BIOANALYTICAL CHEMISTRY, ISSN: 1618-26422011

Artigo:

Deletion of the LCE3C and LCE3Bgenes is a susceptibility factor for psoriatic arthritis: A study inSpanish and Italian populations and meta-analysisRevista: ARTHRITIS AND RHEUMATISM, ISSN: 0004-35912011

Artigo:

Electrochemical DNA base pairs quantification and endonuclease cleavage detectionRevista: BIOSENSORS & BIOELECTRONICS, ISSN: 0956-56632011

Artigo:

ENGINES: exploring single nucleotide variation in entire human genomesRevista: BMC BIOINFORMATICS, ISSN: 1471-21052011

Artigo:

Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identifiedvariants and mucinsRevista: BMC CANCER, ISSN: 1471-24072011

Artigo:

The impact of modern migrations on present-day multi-ethnic Argentina as recorded on themitochondrial DNA genome

Páxina 19/26

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Revista: BMC GENETICS, ISSN: 1471-21562011

Artigo:

Evidence for classification of c.1852_1853AA > GC in MLH1 as a neutral variant for Lynch syndromeRevista: BMC Medical Genetics, ISSN: 1471-23502011

Artigo:

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorderRevista: BMC Medical Genetics, ISSN: 1471-23502011

Artigo:

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families byMALDI-TOF mass spectrometryRevista: BREAST CANCER RESEARCH AND TREATMENT, ISSN: 0167-6806

Artigo:

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu foundermutationRevista: BREAST CANCER RESEARCH AND TREATMENT, ISSN: 0167-68062011

Artigo:

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMAconsortium membersRevista: BREAST CANCER RESEARCH AND TREATMENT, ISSN: 0167-68062011

Artigo:

A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes fromchromosomal regions 9q22 and 3q22Revista: BRITISH JOURNAL OF CANCER, ISSN: 0007-0920

Artigo:

An Update of In Silico Tools for the Prediction of Pathogenesis in Missense VariantsRevista: Current Bioinformatics, ISSN: 1574-89362011

Artigo:

mRNA profiling for the identification of blood-Results of a collaborative EDNAP exerciseRevista: Forensic Science International-Genetics, ISSN: 1872-49732011

Artigo:

Genetic analysis of the SNPforID 34-plex ancestry informative SNP panel in Tunisian and LibyanpopulationsRevista: Forensic Science International-Genetics, ISSN: 1872-49732011

Páxina 20/26

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Artigo:

Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs usingthe CEPH human genome diversity panelRevista: Forensic Science International-Genetics, ISSN: 1872-49732011

Artigo:

A study of East Timor variability using the SNPforID 52-plex SNP panel.Revista: Forensic Science International-Genetics, ISSN: 1872-49732011

Artigo:

Publications and letters related to the forensic genetic analysis of low amounts of DNARevista: Forensic Science International-Genetics, ISSN: 1872-49732011

Artigo:

A Putative ‘‘hepitype’’ in the ATM Gene Associated with Chronic Lymphocytic Leukemia RiskRevista: GENES CHROMOSOMES & CANCER, ISSN: 1045-22572011

Artigo:

Adaptive selection of an incretin gene in Eurasian populations.Revista: GENOME RESEARCH, ISSN: 1088-90512011

Artigo:

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related casesRevista: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, ISSN: 0937-98272011

Artigo:

Pharmacogenetics of OATP Transporters Reveals That SLCO1B1 c.388A>G Variant Is Determinantof Increased Atorvastatin ResponseRevista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, ISSN: 1661-65962011

Artigo:

A Pharmacogenetics Study of TPMT and ITPA Genes Detects a Relationship with Side Effects andClinical Response in Patients with Inflammatory Bowel Disease Receiving AzathioprineRevista: Journal of Gastrointestinal and Liver Diseases, ISSN: 1841-87242011

Artigo:

Call for participation in the neurogenetics consortium within the Human Variome ProjectRevista: NEUROGENETICS, ISSN: 1364-67452011

Artigo:

Genetic counselling in Neurology: A complex problem that requires regulation Revista: NEUROLOGIA, ISSN: 0213-48532011

Páxina 21/26

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Artigo:

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathyRevista: NEUROMUSCULAR DISORDERS, ISSN: 0960-89662011

Artigo:

A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients withoral-facial-digital syndrome type 1 Revista: ORAL DISEASES, ISSN: 1354-523X2011

Artigo:

Use of a comprehensive panel of biomarkers to predict response to a fluorouracil-oxaliplatin regimenin patients with metastatic colorectal cancerRevista: PHARMACOGENOMICS, ISSN: 1462-24162011

Artigo:

Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 ExplainPart of the Missing Heritability of Colorectal CancerRevista: PLoS Genetics, ISSN: 1553-73902011

Artigo:

A Statistical Framework for the Interpretation of mtDNA Mixtures: Forensic and Medical ApplicationsRevista: PLoS One, ISSN: 1932-62032011

Artigo:

Mitochondrial genome is a “genetic sanctuary” during the oncogenic processRevista: PLoS One, ISSN: 1932-62032011

Artigo:

New Insights into the Lake Chad Basin Population Structure Revealed by High-ThroughputGenotyping of Mitochondrial DNA Coding SNPsRevista: PLoS One, ISSN: 1932-62032011

Artigo:

Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations withRas/MAPK Pathway SyndromesRevista: PLoS One, ISSN: 1932-62032011

Artigo:

Genetic Associations in the Vitamin D Receptor and Colorectal Cancer in African Americans andCaucasiansRevista: PLoS One, ISSN: 1932-62032011

Artigo:

Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in ChinesePatients

Páxina 22/26

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Revista: PLoS One, ISSN: 1932-62032011

Artigo:

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in Autosomal Recessive CongenitalIchthyosis from Galicia (NW Spain): evidence of founder effectsRevista: BRITISH JOURNAL OF DERMATOLOGY, ISSN: 0007-09632011

Artigo:

BRCA1 mutations do not increase prostate cancer risk: Results from a meta-analysis including newdataRevista: PROSTATE, ISSN: 0270-41372011

Artigo:

Clopidogrel and acetylsalycilic acid therapy monitoring by liquid chromatography tandem massspectrometry Revista: THERAPEUTIC DRUG MONITORING, ISSN: 0163-43562011

Artigo:

The mitochondrial genome is a "genetic sanctuary" during the oncogenic processRevista: PLoS One, ISSN: 1932-62032011

Capítulos de libro: Título:

Nuevos biomarcadores en genética forense.Tratado de medicina legal y ciencias forenses III. Patología y biología forense

Libros:

Tratado de medicina legal y ciencias forenses III. Patología y biología forense

(978-84-979087-2-6)Publicación: 2011Editorial: Bosch

Teses doutorais: Título:

Estudio de la variabilidad a nivel molecular del DNA autosómico, mitocondrial y del cromosoma Y enuna muestra poblacional del sur-occidente de Colombia

Data lectura: 13/12/2007Director: Ángel María Carracedo Álvarez, ANTONIO SALAS ELLACURIAGAAutor: María Amparo Acosta Aragón

Título:

DNA antiguo, metodología y daños moleculares. Aproximación al poblamiento del nuevo mundo.

Data lectura: 14/12/2007Director: Ángel María Carracedo Álvarez, María Victoria Lareu HuidobroAutor: Nuria Naverán Ruido

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Título:

Estudio de la variabilidad genética y de la expresión de los receptores 5-HT2A de serotonina y D3 dedopamina como biomarcadores candidatos en la esquizofrenia

Data lectura: 13/04/2007Director: María Isabel Loza García, Ángel María Carracedo ÁlvarezAutor: Eduardo Domínguez Medina

Título:

Diseño y Desarrollo de un Programa de Farmacogenética en Antipsicóticos enfocado al tratamientode la Esquizofrenia.

Data lectura: 30/06/2008Director: Ángel María Carracedo Álvarez, FRANCISCO BARROS ANGUEIRAAutor: Alejandro Gesteira Ponce

Título:

Análisis genético molecular de la Retinitis Pigmentaria en dos familias que presentan diferentesmodos de herencia mendeliana

Data lectura: 09/09/2008Director: Ángel María Carracedo Álvarez, Roser González DuarteAutor: Alejandro José Brea Fernández

Título:

Estudio multidisciplinar de la variabilidad del ADN mitocondrial en poblaciones humanas

Data lectura: 13/10/2008Director: Ángel María Carracedo Álvarez, María Victoria Lareu Huidobro, Antonio Salas EllacuriagaAutor: Vanesa Alvarez Iglesias

Título:

Linajes del cromosoma Y humano: aplicaciones genético-poblacionales y forenses

Data lectura: 29/11/2008Director: Ángel María Carracedo Álvarez, María José Brión MartínezAutor: Alejandro José Blanco Verea

Título:

Desarrollo de nuevas técnicas para el diagnóstico genético de fibrosis quística: aplicación en elcribado neonatal

Data lectura: 10/11/2008Director: Ángel María Carracedo Álvarez, FRANCISCO BARROS ANGUEIRAAutor: Pablo Raña Díez

Título:

Análisis de la Producción Biomédica de España a través de los Proyectos de Investigación delFondo de Investigación Sanitaria durante el período 1988-2007

Data lectura: 06/03/2009Director: Ángel María Carracedo ÁlvarezAutor: José Antonio Fernández Formoso

Título:

Xenes de susceptibilidade ó cancro colorrectal hereditario: análise en familias galegas con poliposecolónica e sospeita de Sindrome de Lynch

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Data lectura: 22/07/2009Director: Ángel María Carracedo Álvarez, Ruiz Ponte, Clara MaríaAutor: Nuria Gómez Fernández

Título:

Desenvolvemento de paneis de SNPs autosómicos e estudio da sua aplicación con fins forenses

Data lectura: 03/07/2009Director: María Victoria Lareu Huidobro, Ángel María Carracedo ÁlvarezAutor: Manuel Fondevila Álvarez

Título:

Inferencia non paramétrica para a clasificación e asociación en problemas xenómicos con datos dealta dimensión

Data lectura: 29/01/2010Director: Wenceslao González Manteiga, Antonio Salas Ellacuriaga, Cao Abad, Ricardo J.Autor: Manuel García Magariños

Título:

Estudo xenético da morte súpeta cardíaca: miocardiopatía hipertrófica familiar e síndrome de QTlongo

Data lectura: 12/11/2010Director: Ángel María Carracedo Álvarez, Brión Martínez, María JoséAutor: Catarina Allegue Toscano

Título:

Marcadores do cromosoma X: caracterizacíóns xenéticas, análise poboacional e aplicaciónsforenses

Data lectura: 15/10/2010Director: Ángel María Carracedo Álvarez, Gusmao, LeonorAutor: Iva Gomes

Título:

Estudio do xenoma mitocondrial na enfermidade multifactorial e outras aplicacións poboacionais eforenses

Data lectura: 14/06/2010Director: Ángel María Carracedo Álvarez, Antonio Salas EllacuriagaAutor: Ana Mosquera Miguel

Título:

Estudo farmacoxenético do cancro colorrectal

Data lectura: 18/03/2011Director: Ángel María Carracedo ÁlvarezAutor: María Jesús Lamas Díaz

Título:

Estudio sobre las características clínicas y la influencia genética en la susceptibilidad a laenfermedad meningocócica en la edad pediátrica

Data lectura: 05/12/2011Director: José María Martinón Sánchez, Martinón Torres, Federico, Antonio Salas EllacuriagaAutor: Sonia Marcos Alonso

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Catálogo de Grupos de InvestigaciónCentro de Innovación e Transferenciade Tecnoloxía

http://imaisd.usc.es/[email protected]

Título:

Variabilidade do ADN mitocondrial humano: aplicacións multidisciplinares nos eidos da xenéticaforense, médica e poblacional

Data lectura: 01/07/2011Director: Ángel María Carracedo Álvarez, Antonio Salas EllacuriagaAutor: María Cerezo Fernández

Título:

Cumprimentando o estudio entre STRs y SNPs: Polimorfismos de Inserción/Deleción en xenéticaforense: principios e aplicacións

Data lectura: 16/12/2011Director: Ángel María Carracedo Álvarez, Gusmao, LeonorAutor: Rui Manuel Lebreiro Pereira

Título:

Etnia e xenética na África Subsahariana

Data lectura: 16/12/2011Director: Ángel María Carracedo Álvarez, Sánchez Diz, Paula, Gusmao, LeonorAutor: Verónica Daniela Ramos Gomes

Título:

Farmacoxenómica da azatioprina en pacientes con enfermidade inflamatoria intestinal

Data lectura: 18/07/2011Director: Ángel María Carracedo Álvarez, Barros Angueira, FranciscoAutor: william zabala fernández

Título:

Estudo da variabilidade xenética en poboacións urbáns e nativas de Arxentina. Estratificaciónpoblalcional e implicacións xenético-forenses

Data lectura: 19/05/2011Director: Antonio Salas Ellacuriaga, Gusmao, LeonorAutor: Ulises Faustino Toscanini

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