Browse by Author "Fachal Vilar, Laura"

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

2014- Fachal Vilar, Laura; Vega Gliemmo, Ana; Gómez Caamaño, Antonio

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 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.]

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.]

BRCA1 mutations do not increase prostate cancer risk: Results from a meta-analysis including new data

2011- Fachal Vilar, Laura; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Gómez Caamaño, Antonio; Peleteiro Higuero, Paula; [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

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.]

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.]

Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing

2014- Fachal Vilar, Laura; Vega Gliemmo, Ana; Blanco Pérez, Ana

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.]

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

Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer

2013- Fachal Vilar, Laura; Vega Gliemmo, Ana; Gómez Caamaño, Antonio

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.]

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.]

Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes

2013- Fachal Vilar, Laura; Vega Gliemmo, Ana; Martinón Torres, Federico; Martinon Torres, Nazareth; Salas Ellacuriaga, Antonio; [et al.]

Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements

2014- Fachal Vilar, Laura; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Santamariña Pena, Marta; Blanco Pérez, Ana [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

RUNA digital repository

Browse by Author "Fachal Vilar, Laura"

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

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

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations ﻿

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

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. ﻿

Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients ﻿

BRCA1 mutations do not increase prostate cancer risk: Results from a meta-analysis including new data ﻿

Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium members ﻿

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis ﻿

CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families ﻿

Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing ﻿

Evaluating the role of mitochondrial DNA variation to the genetic predisposition to radiation-induced toxicity ﻿

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 ﻿

Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer ﻿

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry ﻿

Identification of a Locus at 2q24 Associated With Susceptibility for Late Radiation Therapy Toxicity Through Performance of a 3-Stage Genome-Wide Association Study ﻿

Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis ﻿

Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes ﻿

Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements ﻿

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 ﻿

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

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

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

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

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients

BRCA1 mutations do not increase prostate cancer risk: Results from a meta-analysis including new data

Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium members

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis

CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families

Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing

Evaluating the role of mitochondrial DNA variation to the genetic predisposition to radiation-induced toxicity

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

Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry

Identification of a Locus at 2q24 Associated With Susceptibility for Late Radiation Therapy Toxicity Through Performance of a 3-Stage Genome-Wide Association Study

Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis

Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes

Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements

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