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Navegar por autor "Vega Gliemmo, Ana"

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      A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity 

      2014- Barnett, G. C.; Thompson, D.; Fachal Vilar, Laura; Kerns, S.; Talbot, C.; [et al.]
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      A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations 

      2019- Montalván-Suárez, M.; Esperón Moldes, Uxía Saraiva; Rodríguez Pazos, Laura; Ordoñez Ugalde, Andrés; Moscoso, F.; [et al.]
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      A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations 

      2019- Montalván‐Suárez, Martha; Saraiva Esperón, Uxía; Rodríguez Pazos, Laura; Ordóñez‐Ugalde, Andrés; Moscoso, Fernanda; [et al.]
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      About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants 

      2014- Gutierrez-Enriquez, S; Bonache, S; de Garibay, GR; Osorio, A; Santamariña Pena, Marta; [et al.]
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      Association analyses identify 31 new risk loci for colorectal cancer susceptibility 

      2019- Law, P. J.; Timofeeva, M.; Fernández Rozadilla, Ceres; Broderick, P.; Studd, J.; [et al.]
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      Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population 

      2019- Esperón Moldes, Uxía Saraiva; Pardo Seco, Jacobo José; Montalván-Suárez, M.; Fachal Vilar, Laura; Ginarte Val, Manuel Javier; [et al.]
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      Birt-Hogg-Dube syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene 

      2011- Alonso González, Julio; Fernández Redondo, Virginia; Toribio Pérez, Jaime; Vega Gliemmo, Ana; Rodríguez Pazos, Laura [et al.]
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      BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study 

      2015- Vega Gliemmo, Ana
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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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      Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing 

      2014- Whiley, P. J.; De La Hoya, M.; Thomassen, M.; Becker, A.; Brandão, R.; [et al.]
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      Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium 

      2014- Colombo, M.; Blok, M. J.; Whiley, P.; Santamariña Pena, Marta; Gutiérrez-Enríquez, S.; [et al.]
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      Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer 

      2012- Graña Suárez, Begoña; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Blanco Pérez, Ana
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      Evaluating the role of mitochondrial DNA variation to the genetic predisposition to radiation-induced toxicity 

      2014- Fachal Vilar, Laura; Vega Gliemmo, Ana; Sanchez Garcia, Manuel; Lobato Busto, Ramón; Gómez Caamaño, Antonio; [et al.]
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      Evaluation of a 5-Tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: Inter-reviewer variability and promotion of minimum reporting guidelines 

      2013- Fachal Vilar, Laura; Vega Gliemmo, Ana; Santamariña Pena, Marta; Blanco Pérez, Ana
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      Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer 

      2019- Ferreira, M. A.; Gamazon, E. R.; Al-Ejeh, F.; Aittomäki, K.; Andrulis, I. L.; [et al.]
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      Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer 

      2013- Kerns, S. L.; Stock, R. G.; Stone, N. N.; Blacksburg, S. R.; Rath, L.; [et al.]
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      Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer 

      2013- Vega Gliemmo, Ana
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      Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry 

      2011- Fachal Vilar, Laura; Graña Suárez, Begoña; Vega Gliemmo, Ana; Santamariña Pena, Marta; Blanco Pérez, Ana [et al.]
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      I Jornada de expertos en ictiosis 

      2013- Vega Gliemmo, Ana
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      Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes 

      2013- Gómez Carballa, Alberto; Pardo Seco, Jacobo José; Fachal Vilar, Laura; Vega Gliemmo, Ana; Cebey López, Miriam; [et al.]
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