Lista de obras - Claudio Toma - Dominio Público Uruguay

Alternative splicing in the dyslexia-associated gene KIAA0319

artículo científico publicado en 2007

An examination of multiple classes of rare variants in extended families with bipolar disorder

artículo científico publicado en 2018

Analysis of X chromosome inactivation in autism spectrum disorders

artículo científico publicado en 2008

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

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

Cerebral Folate Deficiency Syndromes in Childhood

artículo científico publicado en 2011

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

Common and rare variants of microRNA genes in autism spectrum disorders

artículo científico publicado en 2015

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

artículo científico publicado en 2009

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

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

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

artículo científico publicado en 2009

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

artículo científico publicado en 2020

Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations

artículo científico publicado en 2007

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

artículo científico publicado en 2016

MET and autism susceptibility: family and case-control studies

artículo científico publicado en 2008

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample

artículo científico publicado en 2005

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

scientific article published on 02 July 2013

The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms

artículo científico publicado en 2007

The involvement of serotonin polymorphisms in autistic spectrum symptomatology

artículo científico publicado en 2014

Traumatic Stress Interacts With Bipolar Disorder Genetic Risk to Increase Risk for Suicide Attempts

artículo científico publicado en 2017

Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes

scientific article published on 01 September 2019

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

artículo científico publicado en 2010

Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer

scientific article published on 06 November 2019

Lista de obras de Claudio Toma

Alternative splicing in the dyslexia-associated gene KIAA0319

An examination of multiple classes of rare variants in extended families with bipolar disorder

Analysis of X chromosome inactivation in autism spectrum disorders

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

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

Cerebral Folate Deficiency Syndromes in Childhood

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

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

Common and rare variants of microRNA genes in autism spectrum disorders

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.

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

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

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

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).

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

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

Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations

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

MET and autism susceptibility: family and case-control studies

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

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

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

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

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

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

SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample

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

The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms

The involvement of serotonin polymorphisms in autistic spectrum symptomatology

Traumatic Stress Interacts With Bipolar Disorder Genetic Risk to Increase Risk for Suicide Attempts

Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes

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

Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer