Lista de obras -

"Does replication groups scoring reduce false positive rate in SNP interaction discovery? Response".

artículo científico publicado en 2010

A Major Locus for Autosomal Recessive Retinitis Pigmentosa on 6q, Determined by Homozygosity Mapping of Chromosomal Regions That Contain Gamma-Aminobutyric Acid–Receptor Clusters ⬇️

artículo científico publicado el 1 de junio de 1998

A collection of four integration-free iPSC lines derived from diagnosed sporadic Alzheimer's disease patients with different APOE alleles

scientific article published on 01 August 2019

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

artículo científico publicado en 2014

A digenic combination of polymorphisms within ESR1 and ESR2 genes are associated with age at menarche in the Spanish population

scientific article published on 01 April 2008

A genome-wide association study on low susceptibility to hepatitis C virus infection (GEHEP012 study)

artículo científico publicado en 2019

ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.

artículo científico publicado en 2013

Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma

scientific article published on 01 July 2008

Absence of de novo Y-chromosome microdeletions in male children conceived through intracytoplasmic sperm injection

artículo científico publicado en 2004

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

artículo científico publicado en 2015

Assessing the role of TUBA4A gene in frontotemporal degeneration.

artículo científico publicado en 2015

Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

artículo científico publicado en 2013

Association analysis of urotensin II gene (UTS2) and flanking regions with biochemical parameters related to insulin resistance

artículo científico publicado en 2011

Association between cell-bound blood amyloid-β(1-40) levels and hippocampus volume

artículo científico publicado en 2014

Association of genetic markers within the BMP15 gene with anovulation and infertility in women with polycystic ovary syndrome

artículo científico publicado en 2007

Association of genetic markers within the KIT and KITLG genes with human male infertility

artículo científico publicado en 2006

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Aβ1-17 is a major amyloid-β fragment isoform in cerebrospinal fluid and blood with possible diagnostic value in Alzheimer's disease.

artículo científico publicado en 2015

Beneficial Effects of an Integrated Psychostimulation Program in Patients with Alzheimer's Disease

artículo científico publicado en 2016

Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS)

artículo científico publicado en 2006

CALHM1 P86L polymorphism is associated with late-onset Alzheimer's disease in a recessive model.

artículo científico publicado en 2010

CAPN10 alleles modify laryngeal cancer risk in the Spanish population

artículo científico publicado en 2007

CCR5 expression influences the progression of human breast cancer in a p53-dependent manner

artículo científico publicado en 2003

CDH6 and HAGH protein levels in plasma associate with Alzheimer's disease in APOE ε4 carriers

scientific article published on 19 May 2020

Calpain 10 gene and laryngeal cancer: a survival analysis

artículo científico publicado en 2011

Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels

artículo científico publicado en 2007

Controlled ovarian hyperstimulation pharmacogenetics: a simplified model to genetically dissect estrogen-related diseases

artículo científico publicado en 2007

Correction: Genetic risk for schizophrenia and psychosis in Alzheimer disease

artículo científico publicado en 2019

Correlations between plasma and PET beta-amyloid levels in individuals with subjective cognitive decline: the Fundació ACE Healthy Brain Initiative (FACEHBI)

artículo científico publicado en 2018

Cross-Sectional Characterization of Albumin Glycation State in Cerebrospinal Fluid and Plasma from Alzheimer's Disease Patients

artículo científico publicado en 2019

Cut-off scores of a brief neuropsychological battery (NBACE) for Spanish individual adults older than 44 years old.

artículo científico publicado en 2013

Erratum to "Exploratory analysis of seven Alzheimer's disease genes: disease progression" [Neurobiol. Aging 34 (2013) 1310.e1-1310.e7].

artículo científico publicado en 2014

Estrogen receptor alpha gene variants are associated with Alzheimer's disease.

artículo científico publicado en 2010

Evaluation of macular thickness and volume tested by optical coherence tomography as biomarkers for Alzheimer's disease in a memory clinic

artículo científico publicado en 2020

Exploratory analysis of seven Alzheimer's disease genes: disease progression

artículo científico publicado en 2012

Exploring allelic imbalance within paraffin-embedded tumor biopsies using pyrosequencing technology

artículo científico publicado en 2006

Frontotemporal Lobar Degeneration. Review and update for clinical neurologists

artículo científico publicado en 2017

GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

artículo científico publicado en 2019

GOLPH2 gene markers are not associated with Alzheimer's disease in a sample of the Spanish population.

artículo científico publicado en 2009

Genes and hepatitis C: susceptibility, fibrosis progression and response to treatment.

artículo científico publicado en 2011

Genetic analysis of CAV1 gene in hypertension and metabolic syndrome

scientific article published on 01 April 2006

Genetic analysis of candidate SNPs for metabolic syndrome in obstructive sleep apnea (OSA)

artículo científico publicado en 2013

Genetic analysis of the GRM1 gene in human melanoma susceptibility.

artículo científico publicado en 2007

Genetic and genomic insights into age at natural menopause

artículo científico publicado en 2009

Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection

scientific article published on 21 June 2019

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genetic risk for schizophrenia and psychosis in Alzheimer disease

artículo científico publicado en 2017

Genetic structure of the Spanish population.

artículo científico publicado en 2010

Genetic study of neurexin and neuroligin genes in Alzheimer's disease.

artículo científico publicado en 2013

Genome Wide Meta-Analysis identifies common genetic signatures shared by heart function and Alzheimer's disease

artículo científico publicado en 2019

Genome research in pre-dementia stages of Alzheimer's disease

artículo científico publicado en 2016

Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1

artículo científico publicado en 2012

Gut ammonia production and its modulation.

artículo científico publicado en 2008

IL1B and VWF variants are associated with fibrinolytic early recanalization in patients with ischemic stroke.

artículo científico publicado en 2012

Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population

artículo científico publicado en 2008

Identification of a protective haplogenotype within CAPN10 gene influencing colorectal cancer susceptibility

artículo científico publicado en 2007

Identification of misdiagnosed fronto-temporal dementia using APOE genotype and phenotype-genotype correlation analyses.

artículo científico publicado en 2014

Impact of Recruitment Methods in Subjective Cognitive Decline.

artículo científico publicado en 2017

Increased Albumin Oxidation in Cerebrospinal Fluid and Plasma from Alzheimer's Disease Patients.

artículo científico publicado en 2018

Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity.

artículo científico publicado en 2008

Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes

artículo científico publicado en 2014

Lack of association between NOS3 Glu298Asp and breast cancer risk: a case-control study

artículo científico publicado en 2006

Leukoaraiosis is associated with genes regulating blood-brain barrier homeostasis in ischaemic stroke patients

artículo científico publicado en 2010

Long runs of homozygosity are associated with Alzheimer's disease

artículo científico publicado en 2021

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

artículo científico publicado en 2013

Methylation alterations are not a major cause of PTTG1 misregulation.

artículo científico publicado en 2008

Molecular evaluation of human Ubiquilin 2 gene PXX domain in familial frontotemporal dementia patients

article

Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology

artículo científico publicado en 2005

Patient Engagement: The Fundació ACE Framework for Improving Recruitment and Retention in Alzheimer's Disease Research.

artículo científico publicado en 2018

Pharmacogenetics of controlled ovarian hyperstimulation.

artículo científico publicado en 2005

Pharmacogenetics of controlled ovarian hyperstimulation: time to corroborate the clinical utility of FSH receptor genetic markers.

artículo científico publicado en 2010

Plasma Aβ42/40 Ratio Detects Early Stages of Alzheimer's Disease and Correlates with CSF and Neuroimaging Biomarkers in the AB255 Study

artículo científico publicado en 2019

Pyrosequencing protocol requiring a unique biotinylated primer

artículo científico publicado en 2006

Pyrosequencing protocol using a universal biotinylated primer for mutation detection and SNP genotyping

artículo científico publicado en 2007

Pyrosequencing technology for automated detection of the BMP15 A180T variant in Spanish postmenopausal women

artículo científico publicado en 2007

Re: Polymorphisms Associated With Circulating Sex Hormone Levels in Postmenopausal Women

artículo científico publicado en 2005

Safety, tolerability and immunogenicity of an active anti-Aβ40 vaccine (ABvac40) in patients with Alzheimer's disease: a randomised, double-blind, placebo-controlled, phase I trial.

artículo científico publicado en 2018

Sex and body mass index specific regulation of blood pressure by CYP19A1 gene variants

artículo científico publicado en 2007

Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.

artículo científico publicado en 2006

The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer's disease

scientific article published on 21 March 2019

The Role of Verb Fluency in the Detection of Early Cognitive Impairment in Alzheimer's Disease.

artículo científico publicado en 2018

The therapeutic potential of the calpain family: new aspects.

artículo científico publicado en 2006

Type 2 diabetes is an independent risk factor for dementia conversion in patients with mild cognitive impairment.

artículo científico publicado en 2017

Usefulness of peripapillary nerve fiber layer thickness assessed by optical coherence tomography as a biomarker for Alzheimer's disease

artículo científico publicado en 2018

Validation of the Spanish Version of the Face Name Associative Memory Exam (S-FNAME) in Cognitively Normal Older Individuals.

artículo científico publicado en 2015

Variations in the promoter region of the glutaminase gene and the development of hepatic encephalopathy in patients with cirrhosis: a cohort study

artículo científico publicado en 2010

Visual impairment in aging and cognitive decline: experience in a Memory Clinic.

artículo científico publicado en 2019

WWOX gene is associated with HDL cholesterol and triglyceride levels.

artículo científico publicado en 2010

Weighting the effect of CYP19A gene in bone mineral density of postmenopausal women

artículo científico publicado en 2005

Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke.

artículo científico publicado en 2016

Whole-genome conditional two-locus analysis identifies novel candidate genes for late-onset Parkinson's disease

artículo científico publicado en 2009

Lista de obras de

"Does replication groups scoring reduce false positive rate in SNP interaction discovery? Response".

A Major Locus for Autosomal Recessive Retinitis Pigmentosa on 6q, Determined by Homozygosity Mapping of Chromosomal Regions That Contain Gamma-Aminobutyric Acid–Receptor Clusters ⬇️

A collection of four integration-free iPSC lines derived from diagnosed sporadic Alzheimer's disease patients with different APOE alleles

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

A digenic combination of polymorphisms within ESR1 and ESR2 genes are associated with age at menarche in the Spanish population

A genome-wide association study on low susceptibility to hepatitis C virus infection (GEHEP012 study)

ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.

Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma

Absence of de novo Y-chromosome microdeletions in male children conceived through intracytoplasmic sperm injection

Analysis of shared heritability in common disorders of the brain

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

Assessing the role of TUBA4A gene in frontotemporal degeneration.

Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

Association analysis of urotensin II gene (UTS2) and flanking regions with biochemical parameters related to insulin resistance

Association between cell-bound blood amyloid-β(1-40) levels and hippocampus volume

Association of genetic markers within the BMP15 gene with anovulation and infertility in women with polycystic ovary syndrome

Association of genetic markers within the KIT and KITLG genes with human male infertility

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Aβ1-17 is a major amyloid-β fragment isoform in cerebrospinal fluid and blood with possible diagnostic value in Alzheimer's disease.

Beneficial Effects of an Integrated Psychostimulation Program in Patients with Alzheimer's Disease

Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS)

CALHM1 P86L polymorphism is associated with late-onset Alzheimer's disease in a recessive model.

CAPN10 alleles modify laryngeal cancer risk in the Spanish population

CCR5 expression influences the progression of human breast cancer in a p53-dependent manner

CDH6 and HAGH protein levels in plasma associate with Alzheimer's disease in APOE ε4 carriers

Calpain 10 gene and laryngeal cancer: a survival analysis

Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels

Controlled ovarian hyperstimulation pharmacogenetics: a simplified model to genetically dissect estrogen-related diseases

Correction: Genetic risk for schizophrenia and psychosis in Alzheimer disease

Correlations between plasma and PET beta-amyloid levels in individuals with subjective cognitive decline: the Fundació ACE Healthy Brain Initiative (FACEHBI)

Cross-Sectional Characterization of Albumin Glycation State in Cerebrospinal Fluid and Plasma from Alzheimer's Disease Patients

Cut-off scores of a brief neuropsychological battery (NBACE) for Spanish individual adults older than 44 years old.

Erratum to "Exploratory analysis of seven Alzheimer's disease genes: disease progression" [Neurobiol. Aging 34 (2013) 1310.e1-1310.e7].

Estrogen receptor alpha gene variants are associated with Alzheimer's disease.

Evaluation of macular thickness and volume tested by optical coherence tomography as biomarkers for Alzheimer's disease in a memory clinic

Exploratory analysis of seven Alzheimer's disease genes: disease progression

Exploring allelic imbalance within paraffin-embedded tumor biopsies using pyrosequencing technology

Frontotemporal Lobar Degeneration. Review and update for clinical neurologists

GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

GOLPH2 gene markers are not associated with Alzheimer's disease in a sample of the Spanish population.

Genes and hepatitis C: susceptibility, fibrosis progression and response to treatment.

Genetic analysis of CAV1 gene in hypertension and metabolic syndrome

Genetic analysis of candidate SNPs for metabolic syndrome in obstructive sleep apnea (OSA)

Genetic analysis of the GRM1 gene in human melanoma susceptibility.

Genetic and genomic insights into age at natural menopause

Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Genetic risk for schizophrenia and psychosis in Alzheimer disease

Genetic structure of the Spanish population.

Genetic study of neurexin and neuroligin genes in Alzheimer's disease.

Genome Wide Meta-Analysis identifies common genetic signatures shared by heart function and Alzheimer's disease

Genome research in pre-dementia stages of Alzheimer's disease

Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1

Gut ammonia production and its modulation.

IL1B and VWF variants are associated with fibrinolytic early recanalization in patients with ischemic stroke.

Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population

Identification of a protective haplogenotype within CAPN10 gene influencing colorectal cancer susceptibility

Identification of misdiagnosed fronto-temporal dementia using APOE genotype and phenotype-genotype correlation analyses.

Impact of Recruitment Methods in Subjective Cognitive Decline.

Increased Albumin Oxidation in Cerebrospinal Fluid and Plasma from Alzheimer's Disease Patients.

Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity.

Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes

Lack of association between NOS3 Glu298Asp and breast cancer risk: a case-control study

Leukoaraiosis is associated with genes regulating blood-brain barrier homeostasis in ischaemic stroke patients

Long runs of homozygosity are associated with Alzheimer's disease

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

Methylation alterations are not a major cause of PTTG1 misregulation.

Molecular evaluation of human Ubiquilin 2 gene PXX domain in familial frontotemporal dementia patients

Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology

Patient Engagement: The Fundació ACE Framework for Improving Recruitment and Retention in Alzheimer's Disease Research.

Pharmacogenetics of controlled ovarian hyperstimulation.

Pharmacogenetics of controlled ovarian hyperstimulation: time to corroborate the clinical utility of FSH receptor genetic markers.

Plasma Aβ42/40 Ratio Detects Early Stages of Alzheimer's Disease and Correlates with CSF and Neuroimaging Biomarkers in the AB255 Study

Pyrosequencing protocol requiring a unique biotinylated primer

Pyrosequencing protocol using a universal biotinylated primer for mutation detection and SNP genotyping

Pyrosequencing technology for automated detection of the BMP15 A180T variant in Spanish postmenopausal women

Re: Polymorphisms Associated With Circulating Sex Hormone Levels in Postmenopausal Women

Safety, tolerability and immunogenicity of an active anti-Aβ40 vaccine (ABvac40) in patients with Alzheimer's disease: a randomised, double-blind, placebo-controlled, phase I trial.

Sex and body mass index specific regulation of blood pressure by CYP19A1 gene variants