Navegar por "Fundación pública Galega de Medicina Xenómica"

16p11.2 microdeletion associated to early onset benign childhood seizures

2013- Barros Angueira, Francisco; Castro Gago, Manuel; Gómez Lado, María del Carmen; Perez Gay, Laura; Dacruz Álvarez, David [et al.]

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 genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

2013- Fernandez-Rozadilla, Ceres; Cazier, Jean-Baptiste; Tomlinson, Ian P; Carvajal-Carmona, Luis G; Palles, Claire; [et al.]

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 generalized model to estimate the statistical power in mitochondrial disease studies involving 2×k tables

2013- Salas Ellacuriaga, Antonio; Amigo Lechuga, Jorge; Pardo Seco, Jacobo José

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 (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 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 genome-wide study of modern-day Tuscans: revisiting Herodotus's theory on the origin of the Etruscans

2014- Pardo Seco, Jacobo José; Gómez Carballa, Alberto; Amigo Lechuga, Jorge; Martinón Torres, Federico; Salas Ellacuriaga, Antonio [et al.]

A low frequency of losses in 11q chromosome is associated with better outcome and lower rate of genomic mutations in patients with chronic lymphocytic leukemia

2015- González Martínez, María Teresa

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 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 new seipin-associated neurodegenerative syndrome

2013- Araujo Vilar, David; Ruibal Morell, Alvaro; Beiras Iglesias, Andrés; Aguiar Fernández, Pablo; Loidi Fernández, Lourdes; [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 rare inherited case of 4q deletion detected by GTG and array analyses in a newborn

2011- Barros Angueira, Francisco; Quintas Martínez, María Raquel; Macía Cortiñas, Manuel; Ariza Cobas, Manuela; Míguez Álvarez, Luz; [et al.]

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample

2012- Sobrido Gómez, María Jesús; Cacheiro Martínez, Pilar

Repositorio digital RUNA

Navegar por "Fundación pública Galega de Medicina Xenómica"

16p11.2 microdeletion associated to early onset benign childhood seizures ﻿

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 genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12 ﻿

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

A generalized model to estimate the statistical power in mitochondrial disease studies involving 2×k tables ﻿

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

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

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 genome-wide study of modern-day Tuscans: revisiting Herodotus's theory on the origin of the Etruscans ﻿

A low frequency of losses in 11q chromosome is associated with better outcome and lower rate of genomic mutations in patients with chronic lymphocytic leukemia ﻿

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

A new seipin-associated neurodegenerative syndrome ﻿

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 rare inherited case of 4q deletion detected by GTG and array analyses in a newborn ﻿

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample ﻿

16p11.2 microdeletion associated to early onset benign childhood seizures

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 genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

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

A generalized model to estimate the statistical power in mitochondrial disease studies involving 2×k tables

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

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

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 genome-wide study of modern-day Tuscans: revisiting Herodotus's theory on the origin of the Etruscans

A low frequency of losses in 11q chromosome is associated with better outcome and lower rate of genomic mutations in patients with chronic lymphocytic leukemia

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

A new seipin-associated neurodegenerative syndrome

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 rare inherited case of 4q deletion detected by GTG and array analyses in a newborn

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample