Browse by Author "Vega Gliemmo, Ana"

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.]

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.]

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.]

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.]

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.]

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

2015- Vega Gliemmo, 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.]

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.]

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.]

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

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 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.]

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.]

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

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.]

I Jornada de expertos en ictiosis

2013- Vega Gliemmo, Ana

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.]

RUNA digital repository

Browse by Author "Vega Gliemmo, Ana"

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 ﻿

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants ﻿

Association analyses identify 31 new risk loci for colorectal cancer susceptibility ﻿

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

Birt-Hogg-Dube syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene ﻿

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study ﻿

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 ﻿

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium ﻿

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer ﻿

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 and transcriptome studies identify target genes and risk loci for breast cancer ﻿

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

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 ﻿

I Jornada de expertos en ictiosis ﻿

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

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

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

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

Birt-Hogg-Dube syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

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

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

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 and transcriptome studies identify target genes and risk loci for breast cancer

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

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

I Jornada de expertos en ictiosis

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