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

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.]

Abnormalities of thyroid C-cells in patients with PTEN-hamartoma tumour syndrome

2015- Cameselle Teijeiro, Jose Manuel; Vega Gliemmo, Ana; Abdulkader Nallib, Ihab; Reyes Santías, Rosa María; Cabezas Agrícola, José Manuel; [et al.]

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

2014- Vega Gliemmo, Ana

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

2013- Graña Suárez, Begoña; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Blanco Pérez, Ana

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.]

Annular elastolytic giant cell granuloma associated to late-onset erythtopoietic protoporphyria

2013- Alonso González, Julio; Gutierrez González, Enrique; Toribio Pérez, Jaime; Vega Gliemmo, Ana; Garcia Martinez, Francisco Javier; [et al.]

Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria

2013- Alonso González, Julio; Gutierrez González, Enrique; Toribio Pérez, Jaime; Vega Gliemmo, Ana; Garcia Martinez, Francisco Javier; [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.]

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

BRCA1 Circos: A visualisation resource for functional analysis of missense variants

2015- Vega Gliemmo, Ana

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.]

Breast cancer genes: beyond BRCA1 and BRCA2

2013- Vega Gliemmo, Ana

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.]

Clinical and molecular classification of ichthyosis

2012- Toribio Pérez, Jaime; Vega Gliemmo, Ana; Ginarte Val, Manuel Javier; Rodríguez Pazos, Laura

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

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

Abnormalities of thyroid C-cells in patients with PTEN-hamartoma tumour syndrome ﻿

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

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases ﻿

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

Annular elastolytic giant cell granuloma associated to late-onset erythtopoietic protoporphyria ﻿

Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria ﻿

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

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 ﻿

BRCA1 Circos: A visualisation resource for functional analysis of missense variants ﻿

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

Breast cancer genes: beyond BRCA1 and BRCA2 ﻿

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 ﻿

Clinical and molecular classification of ichthyosis ﻿

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

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

Abnormalities of thyroid C-cells in patients with PTEN-hamartoma tumour syndrome

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

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

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

Annular elastolytic giant cell granuloma associated to late-onset erythtopoietic protoporphyria

Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria

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

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

BRCA1 Circos: A visualisation resource for functional analysis of missense variants

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

Breast cancer genes: beyond BRCA1 and BRCA2

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

Clinical and molecular classification of ichthyosis

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