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Lista de obras de Bru Cormand

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy

artículo científico publicado en 2000

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

artículo científico publicado en 2018

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

scientific article published on 10 March 2017

A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence

artículo científico publicado en 2016

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

artículo científico publicado en 2010

A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis

article

A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.

artículo científico publicado en 2010

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

artículo científico publicado en 2005

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

artículo científico publicado en 2012

ADGRL3 (LPHN3) variants predict substance use disorder

artículo científico publicado en 2019

Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate

artículo científico publicado en 2009

Active and passive MDMA ('ecstasy') intake induces differential transcriptional changes in the mouse brain

artículo científico publicado en 2011

Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation

artículo científico publicado en 2011

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family

artículo científico publicado en 2001

Aggressive behavior in humans: Genes and pathways identified through association studies

artículo científico publicado en 2016

An association study of sequence variants in the forkhead box P2 (FOXP2) gene and adulthood attention-deficit/hyperactivity disorder in two European samples.

artículo científico publicado en 2012

An integrated analysis of genes and functional pathways for aggression in human and rodent models

article

An international multicenter association study of the serotonin transporter gene in persistent ADHD.

artículo científico publicado en 2010

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.

artículo científico publicado en 2013

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

artículo científico publicado en 1999

Association of TGF-beta1 polymorphisms with chronic renal disease.

artículo científico publicado en 2004

Association of the PLCB1 gene with drug dependence.

artículo científico publicado en 2017

Association study between the DAT1, DBH and DRD2 genes and cocaine dependence in a Spanish sample

artículo científico publicado en 2010

Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder

artículo científico publicado en 2008

Association study of 37 genes related to serotonin and dopamine neurotransmission and neurotrophic factors in cocaine dependence.

artículo científico publicado en 2013

Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.

artículo científico publicado en 2011

Association study of the serotoninergic system in migraine in the Spanish population.

artículo científico publicado en 2010

Autosomal dominant midfrequency hearing impairment.

artículo científico publicado en 2001

Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits

artículo científico publicado en 2022

Candidate pathway association study in cocaine dependence: the control of neurotransmitter release

artículo científico publicado en 2011

Candidate system analysis in ADHD: Evaluation of nine genes involved in dopaminergic neurotransmission identifies association withDRD1

article

Candidate-gene association study searching for genetic factors involved in migraine chronification

artículo científico publicado en 2014

Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder

artículo científico publicado en 2014

Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder

artículo científico publicado en 2009

Cerebral Folate Deficiency Syndromes in Childhood

artículo científico publicado en 2011

Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.

artículo científico publicado en 2010

Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients

artículo científico publicado en 2012

Chiari malformation type I: a case-control association study of 58 developmental genes

artículo científico publicado en 2013

Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe

scientific article published on 17 June 2014

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

artículo científico publicado en 2001

Comentarios bibliográficos

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published September 2018 in Neuron

Common and rare variants of microRNA genes in autism spectrum disorders

artículo científico publicado en 2015

Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1,636 adult cases and 1,923 controls from four European populations

artículo científico publicado en 2010

Contribution of LPHN3 to the genetic susceptibility to ADHD in adulthood: a replication study

artículo científico publicado en 2010

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

artículo científico publicado en 2015

Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population

artículo científico publicado en 2009

Corrigendum to ‘Genome-wide copy number variation analysis in adult Attention-Deficit and Hyperactivity Disorder’ [J Psychiatr Res 49 (2014) 60–67]

scholarly article published in Journal of Psychiatric Research

Cross-disorder genetic analyses implicate dopaminergic signaling as a biological link between Attention-Deficit/Hyperactivity Disorder and obesity measures

scholarly article published 11 March 2019

DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders

artículo científico publicado en 2011

DISC1 in adult ADHD patients: an association study in two European samples

artículo científico publicado en 2013

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

article

Differential expression of miR‐1249‐3p and miR‐34b‐5p between vulnerable and resilient phenotypes of cocaine addiction

artículo científico publicado en 2022

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

scholarly article published 3 June 2017

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

artículo científico publicado en 2018

Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder

artículo científico publicado en 2015

EHMTI-0048. Epigenetic changes in a rat model of migraine with aura.

artículo científico publicado en 2014

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

artículo científico publicado en 2015

Evaluation of common variants in 16 genes involved in the regulation of neurotransmitter release in ADHD.

artículo científico publicado en 2012

Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample

article

Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs).

artículo científico publicado en 2013

Exome chip analyses in adult attention deficit hyperactivity disorder.

artículo científico publicado en 2016

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations

artículo científico

Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB.

artículo científico publicado en 2007

Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: a meta-analysis in four European populations

artículo científico publicado en 2011

Exploring Genetic Variation That Influences Brain Methylation In Attention-Deficit/Hyperactivity Disorder

Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder

scientific article published on 03 October 2019

Extreme Observations in Biomedical Data

Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred

scientific article published on 20 January 2009

Frustrated expected reward induces differential transcriptional changes in the mouse brain.

artículo científico publicado en 2014

Fusion of the human gene for the polyubiquitination coeffector UEV1 with Kua, a newly identified gene

artículo científico publicado en 2000

Gaucher disease in Spanish patients: Analysis of eight mutations

article

Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.

artículo científico publicado en 1999

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients

scientific article published on 14 February 2003

Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder.

artículo científico publicado en 2017

Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes

artículo científico publicado en 2008

Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

artículo científico publicado en 1997

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

artículo científico publicado en 2013

Genetics of aggressive behavior: An overview

artículo científico

Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder

artículo científico publicado en 2016

Genome-wide association analysis identifies susceptibility loci for migraine without aura

artículo científico publicado en 2012

Genome-wide association meta-analysis of cocaine dependence: shared genetics with comorbid conditions

article

Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder.

artículo científico publicado en 2013

Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples

artículo científico publicado en 2020

Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing

article

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations

artículo científico publicado en 2007

Identifying Extreme Observations, Outliers and Noise in Clinical and Genetic Data

article published in 2017

Impact of genetic factors on dyslipidemia in HIV-infected patients starting antiretroviral therapy

artículo científico publicado en 2013

Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene

artículo científico publicado en 2006

Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder.

artículo científico publicado en 2018

Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses

artículo científico publicado en 2020

Lack of association between the LPR and VNTR polymorphisms of the serotonin transporter gene and cocaine dependence in a Spanish sample.

artículo científico publicado en 2013

Lack of association of hormone receptor polymorphisms with migraine

artículo científico publicado en 2009

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

artículo científico publicado en 2016

Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder

artículo científico publicado en 2005

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

artículo científico publicado en 2009

Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

artículo científico publicado en 2013

Live fast, die young? A review on the developmental trajectories of ADHD across the lifespan

scholarly article by Barbara Franke et al published October 2018 in European Neuropsychopharmacology

MDMA (Ecstasy) and Gene Expression in the Brain

article

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci

artículo científico publicado en 2000

Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations.

artículo científico publicado en 2010

Meta-analysis of the DRD5 VNTR in persistent ADHD.

artículo científico publicado en 2016

MiR-9, miR-153 and miR-124 are down-regulated by acute exposure to cocaine in a dopaminergic cell model and may contribute to cocaine dependence

artículo científico publicado en 2018

Migraine without aura: genome-wide association analysis identifies several novel susceptibility.

artículo científico publicado en 2013

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome

scientific article published on 01 January 1998

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study

artículo científico publicado en 2005

Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD.

artículo científico publicado en 2009

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

artículo científico publicado en 2017

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation

scientific article published on 01 December 1998

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

artículo científico publicado en 2002

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

article

Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.

artículo científico publicado en 2012

New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder

artículo científico publicado en 2015

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

artículo científico publicado en 2016

On the age of the most prevalent Gaucher disease-causing mutation, N370S.

artículo científico publicado en 2000

On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis

artículo científico publicado en 2015

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

artículo científico publicado en 2004

Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree

Paternally inherited cis-regulatory structural variants are associated with autism.

artículo científico publicado en 2018

Pharmacogenetics of methylphenidate response and tolerability in attention-deficit/hyperactivity disorder.

artículo científico publicado en 2016

Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants ⬇️

artículo científico publicado en 2013

Preliminary evidence for association of genetic variants in pri-miR-34b/c and abnormal miR-34c expression with attention deficit and hyperactivity disorder.

artículo científico publicado en 2016

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

artículo científico publicado en 2010

RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior

artículo científico publicado en 2017

Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses

artículo científico publicado en 2013

Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease

artículo científico publicado en 1998

Replication study of previous migraine genome-wide association study findings in a Spanish sample of migraine with aura

article by Cèlia Sintas et al published 11 November 2014 in Cephalalgia

SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population.

artículo científico publicado en 2011

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

scientific article published on 02 July 2013

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

artículo científico publicado en 2015

Screening of cacna1a and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies

article

Shared genetic background between children and adults with attention deficit/hyperactivity disorder

scientific article published on 12 April 2020

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients

artículo científico publicado en 2002

The genetics of aggression: Where are we now?

artículo científico publicado en 2016

The genetics of attention deficit/hyperactivity disorder in adults, a review

artículo científico publicado en 2012

The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition

artículo científico publicado en 2009

The involvement of serotonin polymorphisms in autistic spectrum symptomatology

artículo científico publicado en 2014

Transcriptomic Changes in Rat Cortex and Brainstem After Cortical Spreading Depression With or Without Pretreatment With Migraine Prophylactic Drugs

artículo científico publicado en 2016

Transcriptomic and genetic studies identify NFAT5 as a candidate gene for cocaine dependence

artículo científico publicado en 2015

Truncating Variant Burden in High Functioning Autism and Pleiotropic Effects of LRP1 Across Psychiatric Phenotypes

scholarly article published 28 September 2018

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

scientific article published on 01 June 1997

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients

scientific article published on 01 January 1996

Two-stage case-control association study of dopamine-related genes and migraine

artículo científico publicado en 2009

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

artículo científico publicado en 2010

Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease.

artículo científico publicado en 2003

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

artículo científico publicado en 1995

Utilidad del análisis del líquido cefalorraquídeo para el estudio de las deficiencias del metabolismo de neurotransmisores y pterinas y del transporte de glucosa y folato a través de la barrera hematoencefálica

[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene]

artículo científico publicado en 2008

[Muscle-eye-brain disease. Presentation of one case with genetic study.]

artículo científico publicado en 2005

[New adult-onset ataxia in a Finnish family]

artículo científico publicado en 2002

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