Navegar por autor "Fachal Vilar, Laura"

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.]

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.]

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.]

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.]

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 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.]

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.]

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.]

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.]

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.]

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.]

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; Blanco Pérez, Ana; Santamariña Pena, Marta; Carracedo Álvarez, Ángel; Vega Gliemmo, Ana [et al.]

No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort

2014- Fachal Vilar, Laura; Gómez Caamaño, Antonio; Alvarez Iglesias, V.; Gómez Carballa, A.; Calvo Crespo, Patricia; [et al.]

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

2020- Esperón Moldes, Uxía Saraiva; Ginarte Val, Manuel Javier; Rodríguez Pazos, Laura; Fachal Vilar, Laura; Martín-Santiago, A.; [et al.]

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

2020- Esperón Moldes, Uxía Saraiva; Ginarte Val, Manuel Javier; Rodriguez-Pazos, L; Fachal Vilar, Laura; Martin-Santiago, A; [et al.]

Possession of the ATM Codon 1853 SNP is Associated With an Increased Risk for Radiation-Induced Toxicity

2014- Fachal Vilar, Laura; Vega Gliemmo, Ana

Radiogenomics: radiobiology enters the era of big data and team science

2014- Rosenstein, B. S.; West, C. M.; Bentzen, S. M.; Alsner, J.; Andreassen, C. N.; [et al.]

TGF beta 1 SNPs and radio-induced toxicity in prostate cancer patients

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

Repositorio digital RUNA

Navegar por autor "Fachal Vilar, Laura"

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

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

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

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population ﻿

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

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

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 ﻿

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 ﻿

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 ﻿

No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort ﻿

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation ﻿

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation ﻿

Possession of the ATM Codon 1853 SNP is Associated With an Increased Risk for Radiation-Induced Toxicity ﻿

Radiogenomics: radiobiology enters the era of big data and team science ﻿

TGF beta 1 SNPs and radio-induced toxicity in prostate cancer patients ﻿

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

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

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

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

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

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

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

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

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

No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

Possession of the ATM Codon 1853 SNP is Associated With an Increased Risk for Radiation-Induced Toxicity

Radiogenomics: radiobiology enters the era of big data and team science

TGF beta 1 SNPs and radio-induced toxicity in prostate cancer patients