Browse by Author "Fachal Vilar, Laura"

Now showing items 1-13 of 13

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

2012- Fachal Vilar, Laura; Santamaría Cadavid, María; Blanco Pérez, Ana
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.]
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

2011- Fachal Vilar, Laura; Toribio Pérez, Jaime; Vega Gliemmo, Ana; Ginarte Val, Manuel Javier; Carracedo Álvarez, Ángel; [et al.]
Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients

2012- Fachal Vilar, Laura; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Sanchez Garcia, Manuel; Lobato Busto, Ramón; [et al.]
Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium members

2012- Fachal Vilar, Laura; Vega Gliemmo, Ana; Blanco Pérez, Ana
CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families

2013- Fachal Vilar, Laura; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Santamariña Pena, Marta; Blanco Pérez, Ana [et al.]
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
Identification of a Locus at 2q24 Associated With Susceptibility for Late Radiation Therapy Toxicity Through Performance of a 3-Stage Genome-Wide Association Study

2014- Fachal Vilar, Laura; Vega Gliemmo, Ana; Gómez Caamaño, Antonio
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis

2014- Fachal Vilar, Laura; Toribio Pérez, Jaime; Vega Gliemmo, Ana; Ginarte Val, Manuel Javier; Carracedo Álvarez, Ángel; [et al.]
Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers

2014- Fachal Vilar, Laura; Vega Gliemmo, Ana
Multiple Local and Recent Founder Effects of TGM1 in Spanish Families

2012- Fachal Vilar, Laura; Rodríguez Pazos, Laura; Ginarte Val, Manuel Javier; Toribio Pérez, Jaime; Salas Ellacuriaga, Antonio; [et al.]
No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

2015- Fachal Vilar, Laura; Vega Gliemmo, Ana; Sobrido Gómez, María Jesús; Quintans Castro, Beatriz; Camiña Tato, Montserrat; [et al.]
SNPS in DNA repair and damage detection genes and acute normal tissue toxicity in prostate cancer patients

2012- Fachal Vilar, Laura; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Sanchez Garcia, Manuel; Lobato Busto, Ramón; [et al.]