Lista de obras - Jurgen Del Favero - Dominio Público Uruguay

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.

artículo científico publicado en 2013

A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families.

artículo científico publicado en 2012

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

artículo científico publicado en 2007

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.

artículo científico publicado en 2005

A qPCR assay to detect and quantify Shiga toxin-producing E. coli (STEC) in cattle and on farms: a potential predictive tool for STEC culture-positive farms.

artículo científico publicado en 2014

A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

scientific article published on March 2009

A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes

scientific article published on 01 December 1999

Association of brain-specific tryptophan hydroxylase, TPH2, with unipolar and bipolar disorder in a Northern Swedish, isolated population

artículo científico publicado en 2006

Associations between common arginine vasopressin 1b receptor and glucocorticoid receptor gene variants and HPA axis responses to psychosocial stress in a child psychiatric population

artículo científico publicado en 2010

Beta-alanine (Carnosyn™) supplementation in elderly subjects (60-80 years): effects on muscle carnosine content and physical capacity.

artículo científico publicado en 2011

BioGraph: unsupervised biomedical knowledge discovery via automated hypothesis generation

artículo científico publicado en 2011

Caspase deficiency alters the murine gut microbiome

artículo científico publicado en 2011

Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families

artículo científico publicado en 2007

Co-occurrence of Marfan syndrome and schizophrenia: what can be learned?

artículo científico publicado en 2012

Construction and characterisation of a yeast artificial chromosome library containing five haploid sugarbeet (Beta vulgaris L.) genome equivalents.

artículo científico publicado en 1994

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

artículo científico publicado en 2016

Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness

artículo científico publicado en 2015

Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA.

artículo científico publicado en 1999

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.

artículo científico publicado en 2013

Dual association of a TRKA polymorphism with schizophrenia

artículo científico publicado en 2011

Effluent impact assessment using microarray-based analysis in common carp: a systems toxicology approach

scientific article published on 30 January 2007

European combined analysis of the CTG18.1 and the ERDA1 CAG/CTG repeats in bipolar disorder

artículo científico publicado en 2002

Evidence for the involvement of the glucocorticoid receptor gene in bipolar disorder in an isolated northern Swedish population

scientific article published on 01 November 2011

Expanded RED products and loci containing CAG/CTG repeats on chromosome 17 (ERDA1) and chromosome 18 (CTG18.1) in trans-generational pairs with bipolar affective disorder

artículo científico publicado en 2004

Expression profiling of endocrine-disrupting compounds using a customized Cyprinus carpio cDNA microarray.

artículo científico publicado en 2006

Ganglioside GM1 forces the redistribution of cholesterol in a biomimetic membrane.

artículo científico publicado en 2012

Gene copy number variation in schizophrenia

article

Gene expression analysis of estrogenic compounds in the liver of common carp (Cyprinus carpio) using a custom cDNA microarray.

artículo científico publicado en 2007

Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depression

scientific article published on 01 March 2002

Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case???control study

article

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

scientific journal article

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

artículo científico publicado en 2003

Genome-wide association study identifies 30 loci associated with bipolar disorder.

artículo científico publicado en 2019

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

artículo científico publicado en 2005

Genomewide scan for affective disorder susceptibility Loci in families of a northern Swedish isolated population

artículo científico publicado en 2004

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Glucocorticoid receptor gene-based SNP analysis in patients with recurrent major depression.

artículo científico publicado en 2006

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia

artículo científico publicado en 2012

Highly asymmetric intergeneric nuclear hybrids between Nicotiana and Petunia: evidence for recombinogenic and translocation events in somatic hybrid plants after "gamma"-fusion

artículo científico publicado en 1991

Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case-control study

artículo científico publicado en 2006

Lamellar stacking split by in-membrane clustering of bulky glycolipids

scientific article published on 01 April 2009

Lens-free imaging of magnetic particles in DNA assays.

artículo científico publicado en 2013

Less cognitive and neurological deficits in schizophrenia patients carrying risk variant in ZNF804A.

artículo científico publicado en 2012

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample

artículo científico publicado en 2005

MIDAW: a web tool for statistical analysis of microarray data

artículo científico publicado en 2005

Molecular interpretation of expanded RED products in bipolar disorder by CAG/CTG repeats located at chromosomes 17q and 18q

scientific article published on 01 October 1999

Multiplex amplicon quantification screening the ABCA13 gene for copy number variation in schizophrenia and bipolar disorder.

artículo científico publicado en 2012

NR4A2: Effects of an “Orphan” Receptor on Sustained Attention in a Schizophrenic Population ⬇️

artículo científico publicado el 31 de enero de 2012

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

No allelic association or interaction of three known functional polymorphisms with bipolar disorder in a northern Swedish isolated population

artículo científico publicado en 2006

No association of the trace amine-associated receptor 6 with bipolar disorder in a northern Swedish population

scientific article published on 01 February 2006

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity

artículo científico publicado en 2012

No implication of brain-derived neurotrophic factor (BDNF) gene in unipolar affective disorder: evidence from Belgian first and replication patient-control studies.

artículo científico publicado en 2005

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

artículo científico publicado en 2011

Overcoming synthetic Abeta peptide aging: a new approach to an age-old problem.

artículo científico publicado en 2009

PEGylation promotes hemoglobin tetramer dissociation.

artículo científico publicado en 2009

Patient-control association study of substance P-related genes in unipolar and bipolar affective disorders

artículo científico publicado en 2005

Plasma donor-derived cell-free DNA kinetics after kidney transplantation using a single tube multiplex PCR assay

artículo científico publicado en 2018

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European Multicenter Association Study of affective disorders

artículo científico publicado en 2002

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European multicenter association study of affective disorders

scholarly article by Isabelle Massat et al published 14 February 2002 in American Journal of Medical Genetics Part A

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

artículo científico publicado en 2012

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

artículo científico publicado en 2009

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

artículo científico publicado en 2011

Response of DNA fragments to potentiometric sensors studied using HPLC.

artículo científico publicado en 2007

Response to Zhang et al (2005): loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major Depression. Neuron 45, 11-16.

artículo científico publicado en 2005

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

artículo científico publicado en 2010

Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

artículo científico publicado en 2011

Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter study

artículo científico publicado en 2004

Short telomeres in depression and the general population are associated with a hypocortisolemic state.

artículo científico publicado en 2011

Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in bipolar disorder

artículo científico publicado en 2007

Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder

scientific article published on 28 June 2007

Strong evidence that GNB1L is associated with schizophrenia

artículo científico publicado en 2007

Support for NRG1 as a Susceptibility Factor for Schizophrenia in a Northern Swedish Isolated Population

artículo científico publicado en 2009

Synaptopodin and 4 novel genes identified in primary sensory neurons

artículo científico publicado en 2005

TP53 Outperforms Other Androgen Receptor Biomarkers to Predict Abiraterone or Enzalutamide Outcome in Metastatic Castration-Resistant Prostate Cancer

scientific article published on 12 September 2018

Targeted screening and validation of copy number variations.

artículo científico

The corticotropin-releasing hormone binding protein is associated with major depression in a population from Northern Sweden

artículo científico publicado en 2003

The kynurenine pathway in major depression: haplotype analysis of three related functional candidate genes

scientific article published on 13 April 2011

Trinucleotide repeat expansions: do they contribute to bipolar disorder? ⬇️

artículo científico publicado el 1 de noviembre de 2001

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

artículo científico publicado en 2003

miRNA genes and the brain: implications for psychiatric disorders.

artículo científico publicado en 2010

Lista de obras de Jurgen Del Favero

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.

A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families.

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.

A qPCR assay to detect and quantify Shiga toxin-producing E. coli (STEC) in cattle and on farms: a potential predictive tool for STEC culture-positive farms.

A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes

Association of brain-specific tryptophan hydroxylase, TPH2, with unipolar and bipolar disorder in a Northern Swedish, isolated population

Associations between common arginine vasopressin 1b receptor and glucocorticoid receptor gene variants and HPA axis responses to psychosocial stress in a child psychiatric population

Beta-alanine (Carnosyn™) supplementation in elderly subjects (60-80 years): effects on muscle carnosine content and physical capacity.

BioGraph: unsupervised biomedical knowledge discovery via automated hypothesis generation

Caspase deficiency alters the murine gut microbiome

Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families

Co-occurrence of Marfan syndrome and schizophrenia: what can be learned?

Construction and characterisation of a yeast artificial chromosome library containing five haploid sugarbeet (Beta vulgaris L.) genome equivalents.

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness

Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA.

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.

Dual association of a TRKA polymorphism with schizophrenia

Effluent impact assessment using microarray-based analysis in common carp: a systems toxicology approach

European combined analysis of the CTG18.1 and the ERDA1 CAG/CTG repeats in bipolar disorder

Evidence for the involvement of the glucocorticoid receptor gene in bipolar disorder in an isolated northern Swedish population

Expanded RED products and loci containing CAG/CTG repeats on chromosome 17 (ERDA1) and chromosome 18 (CTG18.1) in trans-generational pairs with bipolar affective disorder

Expression profiling of endocrine-disrupting compounds using a customized Cyprinus carpio cDNA microarray.

Ganglioside GM1 forces the redistribution of cholesterol in a biomimetic membrane.

Gene copy number variation in schizophrenia

Gene expression analysis of estrogenic compounds in the liver of common carp (Cyprinus carpio) using a custom cDNA microarray.

Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depression

Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case???control study

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

Genomewide scan for affective disorder susceptibility Loci in families of a northern Swedish isolated population

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Glucocorticoid receptor gene-based SNP analysis in patients with recurrent major depression.

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia

Highly asymmetric intergeneric nuclear hybrids between Nicotiana and Petunia: evidence for recombinogenic and translocation events in somatic hybrid plants after "gamma"-fusion

Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case-control study

Lamellar stacking split by in-membrane clustering of bulky glycolipids

Lens-free imaging of magnetic particles in DNA assays.

Less cognitive and neurological deficits in schizophrenia patients carrying risk variant in ZNF804A.

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample

MIDAW: a web tool for statistical analysis of microarray data

Molecular interpretation of expanded RED products in bipolar disorder by CAG/CTG repeats located at chromosomes 17q and 18q

Multiplex amplicon quantification screening the ABCA13 gene for copy number variation in schizophrenia and bipolar disorder.

NR4A2: Effects of an “Orphan” Receptor on Sustained Attention in a Schizophrenic Population ⬇️

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

No allelic association or interaction of three known functional polymorphisms with bipolar disorder in a northern Swedish isolated population

No association of the trace amine-associated receptor 6 with bipolar disorder in a northern Swedish population

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity

No implication of brain-derived neurotrophic factor (BDNF) gene in unipolar affective disorder: evidence from Belgian first and replication patient-control studies.

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

Overcoming synthetic Abeta peptide aging: a new approach to an age-old problem.

PEGylation promotes hemoglobin tetramer dissociation.

Patient-control association study of substance P-related genes in unipolar and bipolar affective disorders

Plasma donor-derived cell-free DNA kinetics after kidney transplantation using a single tube multiplex PCR assay

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European Multicenter Association Study of affective disorders

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European multicenter association study of affective disorders

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

Response of DNA fragments to potentiometric sensors studied using HPLC.

Response to Zhang et al (2005): loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major Depression. Neuron 45, 11-16.

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter study

Short telomeres in depression and the general population are associated with a hypocortisolemic state.

Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in bipolar disorder

Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder

Strong evidence that GNB1L is associated with schizophrenia

Support for NRG1 as a Susceptibility Factor for Schizophrenia in a Northern Swedish Isolated Population

Synaptopodin and 4 novel genes identified in primary sensory neurons

TP53 Outperforms Other Androgen Receptor Biomarkers to Predict Abiraterone or Enzalutamide Outcome in Metastatic Castration-Resistant Prostate Cancer

Targeted screening and validation of copy number variations.

The corticotropin-releasing hormone binding protein is associated with major depression in a population from Northern Sweden

The kynurenine pathway in major depression: haplotype analysis of three related functional candidate genes