Browse by Author "Carracedo Álvarez, Ángel"

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain

2015- Quintela, Inés; Fernández Prieto, Montserrat; Gómez Guerrero, Lorena María; Resches, Mariela; Eiris Puñal, Jesús; [et al.]

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS

2015- Carracedo Álvarez, Ángel; Ruiz Ponte, Clara

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis

2014- Real, Luis M; Ruiz, Agustín; Gayán, Javier; González-Pérez, A; Sáez, ME; [et al.]

A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy

2013- Rojas, J.; Fernandez, I.; Pastor, J. C.; MacLaren, R. E.; Ramkissoon, Y.; [et al.]

A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk

2015- Carracedo Álvarez, Ángel

A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

2014- Carracedo Álvarez, Ángel; Fernández Rozadilla, Ceres; Ruiz Ponte, Clara; Lamas Díaz, María Jesús; Clofent Villaplana, Juan [et al.]

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

2015- Carracedo Álvarez, Ángel; Barros Angueira, Francisco; Castro Gago, Manuel; Eiris Puñal, Jesús; Lago Lestón, Ramón Manuel [et al.]

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

2011- San Millan Tejado, Beatriz; Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Blanco Arias, Patricia; García Murias, María; [et al.]

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

2014- Carracedo Álvarez, Ángel; Barros Angueira, Francisco; Couce Pico, María Luz; Balboa Beltran, Emilia; Pérez Muñuzuri, Alejandro; [et al.]

A pharmacogenetics study of TPMT and ITPA genes detects a relationship with side effects and clinical response in patients with inflammatory bowel disease receiving azathioprine

2011- Echarri Piudo, Ana; Castro Alvariño, Javier; Barreiro de Acosta, Manuel; Carracedo Álvarez, Ángel; Barros Angueira, Francisco; [et al.]

A study of East Timor variability using the SNPforID 52-plex SNP panel

2011- Carracedo Álvarez, Ángel

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.]

A two-phase case-control study for colorectal cancer genetic susceptibility: Candidate genes from chromosomal regions 9q22 and 3q22

2011- Carracedo Álvarez, Ángel; Fernández Rozadilla, Ceres; Ruiz Ponte, Clara

A unified nomenclature and amino acid numbering for human PTEN

2014- Pulido, R.; Baker, S. J.; Barata, J. T.; Carracedo Álvarez, Ángel; Cid, V. J.; [et al.]

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling

2015- Carracedo Álvarez, Ángel; Quintela García, Inés

Allele frequencies of 20 STRs from Northwest Spain (Galicia)

2012- Carracedo Álvarez, Ángel

An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders

2015- Carracedo Álvarez, Ángel; Arrojo Romero, Manuel; Ramos Rios, Ramón; Paz Silva, Eduardo; Agra Romero, Santiago; [et al.]

Analysis of a claimed distant relationship in a deficient pedigree using high density SNP data

2012- Carracedo Álvarez, Ángel; Quintela García, Inés

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.]

RUNA digital repository

Browse by Author "Carracedo Álvarez, Ángel"

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain ﻿

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS ﻿

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis ﻿

A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy ﻿

A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk ﻿

A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer ﻿

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features ﻿

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy ﻿

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease ﻿

A pharmacogenetics study of TPMT and ITPA genes detects a relationship with side effects and clinical response in patients with inflammatory bowel disease receiving azathioprine ﻿

A study of East Timor variability using the SNPforID 52-plex SNP panel ﻿

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

A two-phase case-control study for colorectal cancer genetic susceptibility: Candidate genes from chromosomal regions 9q22 and 3q22 ﻿

A unified nomenclature and amino acid numbering for human PTEN ﻿

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling ﻿

Allele frequencies of 20 STRs from Northwest Spain (Galicia) ﻿

An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders ﻿

Analysis of a claimed distant relationship in a deficient pedigree using high density SNP data ﻿

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. ﻿

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis

A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy

A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk

A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

A pharmacogenetics study of TPMT and ITPA genes detects a relationship with side effects and clinical response in patients with inflammatory bowel disease receiving azathioprine

A study of East Timor variability using the SNPforID 52-plex SNP panel

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

A two-phase case-control study for colorectal cancer genetic susceptibility: Candidate genes from chromosomal regions 9q22 and 3q22

A unified nomenclature and amino acid numbering for human PTEN

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling

Allele frequencies of 20 STRs from Northwest Spain (Galicia)

An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders

Analysis of a claimed distant relationship in a deficient pedigree using high density SNP data

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.