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Navegar por autor "Carracedo Álvarez, Ángel"

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      A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy 

      2011- San Millan Tejado, Beatriz; Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Blanco Arias, Patricia; García Murias, María; [et al.]
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      A study of East Timor variability using the SNPforID 52-plex SNP panel 

      2011- Carracedo Álvarez, Ángel
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      A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1 

      2014- Fachal Vilar, Laura; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Sanchez Garcia, Manuel; Lobato Busto, Ramón; [et al.]
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      affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling 

      2015- Carracedo Álvarez, Ángel; Quintela García, Inés
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      Association between SNPs of Metalloproteinases and Prostaglandin F2 alpha Receptor Genes and Latanoprost Response in Open-Angle Glaucoma 

      2015- Carracedo Álvarez, Ángel; Brión Martínez, María José
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      Case-control study for colorectal cancer genetic susceptibility in EPICOLON: Previously identified variants and mucins 

      2011- Cubiella Fernández, Joaquín; Carracedo Álvarez, Ángel; Fernández Rozadilla, Ceres; Clofent Villaplana, Juan
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      Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis 

      2012- Fachal Vilar, Laura; Toribio Pérez, Jaime; Vega Gliemmo, Ana; Ginarte Val, Manuel Javier; Carracedo Álvarez, Ángel; [et al.]
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      Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome 

      2015- Carracedo Álvarez, Ángel; Barros Angueira, Francisco; Castro Gago, Manuel; Eiris Puñal, Jesús
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      Cognitive functioning in children and adults with Smith-Magenis syndrome 

      2012- Carracedo Álvarez, Ángel; Fernández Prieto, Montserrat
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      Common variant at 16p11.2 conferring risk of psychosis 

      2014- Carracedo Álvarez, Ángel; Arrojo Romero, Manuel; Costas Costas, Javier
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      Completion of a worldwide reference panel of samples for an ancestry informative Indel assay. 

      2015- Carracedo Álvarez, Ángel; Amigo Lechuga, Jorge
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      Conservation of major histocompatibility complex (MHC) haplotypes in HFE C282Y homozygous hemochromatosis patients and its effect on the phenotype of low CD8+ T-lymphocytes: A study in 3 populations from Porto, Alabama and Trondheim 

      2013- Carracedo Álvarez, Ángel
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      CYP2D6 genotyping by liquid chromatography-electrospray ionization mass spectrometry 

      2011- Carracedo Álvarez, Ángel
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      Delimiting allelic imbalance of TYMS by allele-specific analysis 

      2015- Carracedo Álvarez, Ángel; Barros Angueira, Francisco; Balboa Beltran, Emilia; Cruz Guerrero, Raquel
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      Explore the role that dmet genotyping platform may play in search of genetic polymorphism associated with severe toxicity 

      2011- Carracedo Álvarez, Ángel; Candamio Folgar, Sonia; López López, Rafael; Barros Angueira, Francisco; Bernárdez Ferrán, Beatriz; [et al.]
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      Further development of forensic eye color predictive tests 

      2013- Carracedo Álvarez, Ángel; Rodríguez Cid, María José
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      Genetic association study of age-related macular degeneration in the Spanish population 

      2011- Carracedo Álvarez, Ángel; Brión Martínez, María José; Sanchez Salorio, Manuel; De La Fuente Freire, María; Pazos González, Belén; [et al.]
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      Genetic Associations in the Vitamin D Receptor and Colorectal Cancer in African Americans and Caucasians. 

      2011- Ruiz Ponte, Clara; Carracedo Álvarez, Ángel
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      Genetic epistasis in female suicide attempters 

      2012- Carracedo Álvarez, Ángel; Costas Costas, Javier
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      Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk 

      2012- Carracedo Álvarez, Ángel
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