Search filters

List of works by Fabio Macciardi

5HT1Dbeta Receptor gene implicated in the pathogenesis of Obsessive-Compulsive Disorder: further evidence from a family-based association study

scientific article published in January 2002

A European multicenter association study ofHTR2A receptor polymorphism in bipolar affective disorder

scientific article published on 01 April 2000

A genetic linkage study of schizophrenia to chromosome 5 markers in a Northern Italian population

article

A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype

scientific article

A method for building a genome-connectome bipartite graph model

scientific article published on 19 March 2019

A retrotransposon storm marks clinical phenoconversion to late-onset Alzheimer's disease

scientific article published on 19 May 2022

A tumor suppressor locus in familial and sporadic chordoma maps to 1p36.

scientific article

A two-locus model for familial Alzheimer's disease?

scientific article published in January 1993

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

scientific article

AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia

scientific article (publication date: October 2006)

Ablation of D2 autoreceptors causes epigenetic reprogramming of cortical neurons.

scientific article published in November 2014

Adult attention deficit hyperactivity disorder and the dopamine D4 receptor gene.

scientific article published in June 2000

Alpha reactivity in schizophrenia and in schizophrenic spectrum disorders: demographic, clinical and hemispheric assessment.

scientific article

Altered TRPC7 gene expression in bipolar-I disorder

scientific article

Amino acid patterns in schizophrenia: Some new findings

scientific article published on 01 April 1990

An Association Study between Schizophrenia and the Dopamine Receptor Genes DRD3 and DRD4 Using Haplotype Relative Risk

article

An ICA with reference approach in identification of genetic variation and associated brain networks

scientific article published on 22 February 2012

An integrative functional genomics approach for discovering biomarkers in schizophrenia

scientific article

An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus

scientific article

Analysis of depressive symptomatology in mood disorders

article

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

scientific article published on 29 September 2013

Analysis of miR-137 expression and rs1625579 in dorsolateral prefrontal cortex

scientific article published on 17 June 2013

Analysis of the D4 Dopamine Receptor Gene Variant in an Italian Schizophrenia Kindred

article

Analytic Considerations about Observed Distribution of Age of Onset in Schizophrenia

Angiotensin converting enzyme gene insertion/deletion polymorphism: case-control association studies in schizophrenia, major affective disorder, and tardive dyskinesia and a family-based association study in schizophrenia

scientific article published in April 2002

Angiotensinogen gene polymorphism, again?

article

Application of pharmacogenetics to psychotic disorders: the first consensus conference. The Consensus Group for Outcome Measures in Psychoses for Pharmacological Studies

scientific article

Applications of the pipeline environment for visual informatics and genomics computations

scientific article (publication date: 26 July 2011)

Association analyses of the DAOA/G30 and D-amino-acid oxidase genes in schizophrenia: further evidence for a role in schizophrenia

scientific article

Association analyses of the DAOA/G30 and d-amino-acid oxidase genes in schizophrenia: Further evidence for a role in schizophrenia

article

Association analysis of G-protein β3 subunit gene with altered Ca2+ homeostasis in bipolar disorder

article

Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort

scientific article

Association between schizophrenia and the dopamine receptor DRD4

scholarly article by Fabio Macciardi et al published September 1994 in European Neuropsychopharmacology

Association between the BDNF gene and schizophrenia

scientific article published in February 2003

Association between the dopamine transporter gene and posttraumatic stress disorder

scientific article published in January 2002

Association of the MscI polymorphism of the dopamine D3 receptor gene with tardive dyskinesia in schizophrenia

scientific article published in July 1999

Association of the Val158Met catechol O-methyltransferase genetic polymorphism with panic disorder

scientific article published on 8 March 2006

Association of the putative susceptibility gene, transient receptor potential protein melastatin type 2, with bipolar disorder

scientific article

Association of the type 2 diabetes mellitus susceptibility gene, TCF7L2, with schizophrenia in an Arab-Israeli family sample

scientific article

Association study between the dopamine D4 receptor gene and schizophrenia

scientific article published in October 1995

Association study of 12 polymorphisms spanning the dopamine D(2) receptor gene and clozapine treatment response in two treatment refractory/intolerant populations

scientific article published in August 2005

Association study of a promoter polymorphism of UFD1L gene with schizophrenia

scientific article

Association study of brain-derived neurotrophic factor (BDNF) and LIN-7 homolog (LIN-7) genes with adult attention-deficit/hyperactivity disorder

scientific article published in September 2008

Association study of dopamine D3 receptor gene and schizophrenia

scientific article published in December 1995

Autism and the X chromosome: no linkage to microsatellite loci detected using the affected sibling pair method

scientific article published in April 2002

Chromosomal anomalies at 1q, 3, 16q, and mutations of SIX1 and DROSHA genes underlie Wilms tumor recurrences

scientific article published on 20 January 2016

Chromosome 4 Workshop Summary: Sixth World Congress on Psychiatric Genetics, Bonn, Germany, October 6-10, 1998.

scientific article published in June 1999

Combined analysis of 635 patients confirms an age-related association of the serotonin 2A receptor gene with tardive dyskinesia and specificity for the non-orofacial subtype

scientific article published on 28 April 2005

Combined measure of smooth pursuit eye movements and ventricle-brain ratio in schizophrenic disorders

scientific article published on August 1987

Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension

scientific article

Conceptual basis and methodology of the SOPHIA study

scientific article published in November 2007

Context dependency of the salt intake: left ventricular hypertrophy connection

Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry

scientific article published on 07 October 2019

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

scientific article

Cortical Brain Abnormalities in 4474 Individuals With Schizophrenia and 5098 Control Subjects via the Enhancing Neuro Imaging Genetics Through Meta Analysis (ENIGMA) Consortium

article

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

scientific article

DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the Jewish population

scientific article published on 20 June 2011

Dentate gyrus volume deficit in schizophrenia

scientific article published on 03 June 2019

Developing a genomic-based point-of-care diagnostic system for rheumatoid arthritis and multiple sclerosis

scientific article published in January 2009

Diverse evolutionary histories for beta-adrenoreceptor genes in humans

scientific article published on 02 July 2009

Dopamine D2 receptor gene variants and quantitative measures of positive and negative symptom response following clozapine treatment

scientific article published on 8 November 2005

Dopamine receptor D2 Ser/Cys311 variant associated with disorganized symptomatology of schizophrenia.

scientific article published in November 1998

Dopamine receptor D4 gene is associated with delusional symptomatology in mood disorders

article

EEG power spectrum profile and structural CNS characteristics in schizophrenia

scientific article published in June 1990

Empirical derivation of the reference region for computing diagnostic sensitive ¹⁸fluorodeoxyglucose ratios in Alzheimer's disease based on the ADNI sample

scientific article published on 19 September 2011

Enabling collaborative research using the Biomedical Informatics Research Network (BIRN)

scientific article (publication date: 2011)

Epigenetic reprogramming of cortical neurons through alteration of dopaminergic circuits.

scientific article

Erratum: AHI1, a pivotal neurodevelopmental gene and C6orf217 are associated with susceptibility to schizophrenia

article

Erratum: Subcortical brain volume abnormalities in 2028 individuals with schizophrenia and 2540 healthy controls via the ENIGMA consortium.

scientific article published on 18 August 2015

European multicentre association study of schizophrenia: a study of the DRD2 Ser311Cys and DRD3 Ser9Gly polymorphisms

scientific article published on 01 February 1998

Evidence for linkage disequilibrium between the alpha 7-nicotinic receptor gene (CHRNA7) locus and schizophrenia in Azorean families

scientific article published in December 2001

Evidence for malaria selection of a CR1 haplotype in Sardinia

scientific article published on 19 May 2011

Evidence that the N-methyl-D-aspartate subunit 1 receptor gene (GRIN1) confers susceptibility to bipolar disorder

scientific article

Factors affecting the distribution of age at onset in patients with affective disorders

scientific article published on January 1982

Family association study between DRD2 and DRD3 gene polymorphisms and schizophrenia in a Portuguese population

scientific article published in March 2004

Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence

scientific article published on 6 April 2010

Fine mapping of a schizophrenia susceptibility locus at chromosome 6q23: increased evidence for linkage and reduced linkage interval

article

Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia

scientific article

Genetic analysis of quantitative phenotypes in AD and MCI: imaging, cognition and biomarkers

scientific article (publication date: June 2014)

Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia

scientific article

Genetic approach to the study of heterogeneity of affective disorders

scientific article published on March 1987

Genetic linkage and association studies of schizophrenia and related disorders using dopamine transporter gene markers

article

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic transmission of migraine without aura: a study of 68 families

scientific article published on December 1991

Genetic variant near cytosolic phospholipase A2 associated with schizophrenia

scientific article published on 01 August 1996

Genetically determined low maternal serum dopamine beta-hydroxylase levels and the etiology of autism spectrum disorders

scientific article

Genome scan of Arab Israeli families maps a schizophrenia susceptibility gene to chromosome 6q23 and supports a locus at chromosome 10q24.

scientific article published in May 2003

Genome-wide association study of obsessive-compulsive disorder.

scientific article

Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

scientific journal article

Genome-wide strategies for discovering genetic influences on cognition and cognitive disorders: methodological considerations

scientific article published on January 2009

Genomic profiling by whole-genome single nucleotide polymorphism arrays in Wilms tumor and association with relapse

scientific article

HERVs expression in Autism Spectrum Disorders

scientific article published in 2012

Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease

scientific article published in 2009

Huntington's disease cerebrospinal fluid seeds aggregation of mutant huntingtin

scientific article

Identification of candidate genes for psychosis in rat models, and possible association between schizophrenia and the 14-3-3eta gene

scientific article

Identification of common variants associated with human hippocampal and intracranial volumes

scientific article published on 15 April 2012

Identification of new schizophrenia susceptibility loci in an ethnically homogeneous, family-based, Arab-Israeli sample

scholarly article by Anna Alkelai et al published November 2011 in FASEB Journal

Identifying gene regulatory networks in schizophrenia

scientific article

Imaging genetics approaches to identify mechanisms in severe mental illness

scientific article published in September 2014

Imaging phenotypes and genotypes in schizophrenia

scientific article

Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample

scientific article

Increased concentrations of various amino acids in schizophrenic patients. Evidence for heterozygosity effects?

scientific article published on June 1987

Influence of Education on Wcst Performances in Schizophrenic Patients

scientific article published on 01 November 1992

Infrastructure for sharing standardized clinical brain scans across hospitals

Interleukin 18 gene polymorphisms predict risk and outcome of Alzheimer's disease

scientific article

Is the 5-HT1DβReceptor Gene Implicated in the Pathogenesis of Obsessive-Compulsive Disorder?

article

LINE1 insertions as a genomic risk factor for schizophrenia: Preliminary evidence from an affected family

scientific article

Lack of association between schizophrenia and the phospholipase-A(2) genes cPLA2 and sPLA2.

scientific article

Lack of association between serotonin-2A receptor gene (HTR2A) polymorphisms and tardive dyskinesia in schizophrenia

scientific article published in March 2001

Lack of association between the T-->C 267 serotonin 5-HT6 receptor gene (HTR6) polymorphism and prediction of response to clozapine in schizophrenia

scientific article

Lack of association between the corticotrophin-releasing hormone receptor 2 gene and panic disorder

scientific article published on June 2006

Lack of linkage disequilibrium between serotonin transporter protein gene (SLC6A4) and bipolar disorder

scientific article published in June 2000

Linkage disequilibrium between dopamine D1 receptor gene (DRD1) and bipolar disorder

scientific article

Linkage of mood disorders with D2, D3 and TH genes: a multicenter study

article

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

scientific article

Mitochondrial mutations and polymorphisms in psychiatric disorders

scientific article

Moclobemide response in depressed patients: association study with a functional polymorphism in the monoamine oxidase A promoter

scientific article published in July 2002

New Polymorphism for the Human Serotonin 1D Receptor Variant (5-HT 1Dβ ) not Linked to Schizophrenia in Five Canadian Pedigrees

article

Next generation sequence analysis and computational genomics using graphical pipeline workflows

scientific article

No association of the Ser/Cys311 DRD2 molecular variant with schizophrenia using a classical case control study and the haplotype relative risk

scientific article published on 01 May 1997

No interaction of GABA(A) alpha-1 subunit and dopamine receptor D4 exon 3 genes in symptomatology of major psychoses

scientific article

Outcomes on lithium treatment as a tool for genetic studies in affective disorders

scientific article published on April 1984

PP2A-Bgamma subunit and KCNQ2 K+ channels in bipolar disorder

scientific article published on 30 May 2006

Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions.

scientific article

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

scientific article published in October 2013

PedSplit: pedigree management for stratified analysis

scientific article published in April 2004

Pharmacogenetics of antidepressant and mood-stabilizing drugs: a review of candidate-gene studies and future research directions

scientific article

Pharmacogenetics of antipsychotic treatment: lessons learned from clozapine

scientific article

Pharmacogenetics of autoimmune diseases: research issues in the case of Multiple Sclerosis and the role of IFN-beta

scientific article

Pharmacogenetics of tardive dyskinesia: combined analysis of 780 patients supports association with dopamine D3 receptor gene Ser9Gly polymorphism

scientific article

Pilot Study on Schizophrenia in Sardinia

Polygenic risk score, genome-wide association, and gene set analyses of cognitive domain deficits in schizophrenia

scientific article published on 12 June 2018

Polymorphism of the serotonin 5-HT1B receptor gene (HTR1B) associated with minimum lifetime body mass index in women with bulimia nervosa

scientific article published in October 2001

Population Stratification Analysis in Genome-Wide Association Studies

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

scientific article published in March 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

Psychiatric pharmacogenetics: personalizing psychostimulant therapy in attention-deficit/hyperactivity disorder

scientific article

Psychosis and genes with trinucleotide repeat polymorphism

article

Reelin gene alleles and susceptibility to autism spectrum disorders

scientific article

Reply to: New Meta- and Mega-analyses of Magnetic Resonance Imaging Findings in Schizophrenia: Do They Really Increase Our Knowledge About the Nature of the Disease Process?

scientific article published on 22 November 2018

Response to lithium therapy and the TH gene

article

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.

scientific article published on 6 July 2010

SNP-based pathway enrichment analysis for genome-wide association studies ⬇️

scientific article

SNPLims: a data management system for genome wide association studies

scientific article

Schizophrenia miR-137 locus risk genotype is associated with dorsolateral prefrontal cortex hyperactivation

scientific article published on August 2013

Self-esteem in remitted patients with mood disorders is not associated with the dopamine receptor D4 and the serotonin transporter genes

scientific article published in August 1998

Serotonin subtype 2 receptor genes and clinical response to clozapine in schizophrenia patients.

scientific article published in August 1998

Single-Nucleotide Polymorphism–Defined Class I and Class III Major Histocompatibility Complex Genetic Subregions Contribute to Natural Long-term Nonprogression in HIV Infection

article

Social adjustment and self-esteem in remitted patients with mood disorders

scientific article published on 01 June 1999

Social adjustment and self-esteem of bipolar patients: a multicentric study

scientific article

Steady State Concentrations of the Enantiomers of Mianserin and Desmethylmianserin in Poor and in Homozygous and Heterozygous Extensive Metabolizers of Debrisoquine

scientific article published on 01 February 1998

Subcortical brain volume abnormalities in 2028 individuals with schizophrenia and 2540 healthy controls via the ENIGMA consortium

scientific article

Support for EKN1 as the susceptibility locus for dyslexia on 15q21

scientific article

Targeted Next-Generation Sequencing Appoints C16orf57 as?Clericuzio-Type Poikiloderma with Neutropenia Gene

scientific article

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

scientific article

The 460Trp allele of α-adducin increases carotid intima–media thickness in young adult males

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

scientific article

The brain-derived neurotrophic factor gene confers susceptibility to bipolar disorder: evidence from a family-based association study.

scientific article published on 02 August 2002

The dopamine-4 receptor gene associated with binge eating and weight gain in women with seasonal affective disorder: an evolutionary perspective

scientific article published in November 2004

The genetic architecture of the human cerebral cortex

The genetic architecture of the human cerebral cortex

scientific article

The genomic psychiatry cohort: partners in discovery

scientific article published on 03 May 2013

The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach

scientific article (publication date: April 2002)

The perfect neuroimaging-genetics-computation storm: collision of petabytes of data, millions of hardware devices and thousands of software tools

scientific article

The power of systematic genealogical study in familial Alzheimer disease

scientific article published on 01 April 1993

The search for genetic homogeneity in affective disorders

scientific article

The trace amine receptor 4 gene is not associated with schizophrenia in a sample linked to chromosome 6q23

scientific article

Transposable elements and psychiatric disorders

scientific article published on 28 February 2014

Tyrosine hydroxylase gene associated with depressive symptomatology in mood disorder

scientific article published in March 1998

Update on chromosomal locations for psychiatric disorders: report of the interim meeting of chromosome workshop chairpersons from the VIIth World Congress of Psychiatric Genetics, Monterey, California, October 14-18, 1999.

scientific article published in June 2000

Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder

scientific article published in September 2001

alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy

scientific article

d-Cycloserine adjuvant therapy to conventional neuroleptic treatment in schizophrenia: an open-label study

scientific article published on 01 January 1994

Paulina is supported by:

About Paulina

Help