List of works by Catalina Betancur

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint

scientific article published in December 2001

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

scientific article

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

scientific article (publication date: June 2011)

A framework for an evidence-based gene list relevant to autism spectrum disorder

scientific article published on 21 April 2020

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

scientific article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

scientific article published on 14 October 2011

Abnormal melatonin synthesis in autism spectrum disorders

scientific article

Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism

scientific article published in January 2002

Activity of the hypothalamic-pituitary-adrenal axis in mice selected for left- or right-handedness

scientific article published in September 1992

Acute and chronic effects of methamphetamine on tele-methylhistamine levels in mouse brain: selective involvement of the D(2) and not D(3) receptor

scientific article

Alterations in synapsis formation and function in autism disorders

scientific article published in January 2008

Altered expression of vesicular glutamate transporters VGLUT1 and VGLUT2 in Parkinson disease

scientific article

Altered neurotensin mrna expression in mice lacking the dopamine transporter

scientific article published on January 2004

An investigation of ribosomal protein L10 gene in autism spectrum disorders

scientific article

Analysis of X chromosome inactivation in autism spectrum disorders

scientific article published on September 2008

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism

scientific article published on August 2003

Association between left-handedness and allergy: A reappraisal

scientific article published on 01 January 1990

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

scientific article published on 11 January 2012

Autism, language delay and mental retardation in a patient with 7q11 duplication

scientific article

Autism, language delay and mental retardation in a patient with 7q11 duplication.

scientific article published on 30 March 2007

Behavioural disturbances associated with hyperdopaminergia in dopamine-transporter knockout mice

scientific article published on June 2000

Brain modulation of the immune system: association between lymphocyte responsiveness and paw preference in mice

scientific article published on 01 August 1988

Characterization and distribution of binding sites for a new neurotensin receptor antagonist ligand, [3H]SR 48692, in the guinea pig brain

scientific article published on June 1995

Characterization of SLITRK1 variation in obsessive-compulsive disorder

scientific journal article

Characterization of binding sites of a new neurotensin receptor antagonist, [3H]SR 142948A, in the rat brain.

scientific article published in February 1998

Chronic cocaine increases neurotensin gene expression in the shell of the nucleus accumbens and in discrete regions of the striatum

scientific article

Clinical utility gene card for: deletion 22q13 syndrome

scientific article

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

scientific article

Constitutional downregulation of SEMA5A expression in autism

scientific article

Contributors

article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

Corticosteroid regulation of IL-1 receptors in the mouse hippocampus: effects of glucocorticoid treatment, stress, and adrenalectomy

scientific article

Cytokine Regulation of Corticosteroid Receptors in the Rat Hippocampus: Effects of Interleukin-1, Interleukin-6, Tumor Necrosis Factor and Lipopolysaccharide

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

scientific article

Differential ontogenetic patterns of levocabastine-sensitive neurotensin NT2 receptors and of NT1 receptors in the rat brain revealed by in situ hybridization

scientific article published in March 1999

Endogenous neurotensin regulates hypothalamic-pituitary-adrenal axis activity and peptidergic neurons in the rat hypothalamic paraventricular nucleus.

scientific article published on April 1997

Etiological Heterogeneity in Autism Spectrum Disorders

scholarly article published 2013

Exploratory analysis of obsessive compulsive symptom dimensions in children and adolescents: a prospective follow-up study

scientific article

Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders

scientific article published on January 2006

Functional brain asymmetry and lymphocyte proliferation in female mice: effects of right and left cortical ablation

scientific article published in May 1991

Functional brain asymmetry and murine systemic lupus erythematosus

scientific article published on 01 September 1989

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism

scientific article published on 15 September 2015

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

scientific article

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

scientific article

Genetics of autism: from genome scans to candidate genes

scientific article published in November 2003

Heterozygous FA2H mutations in autism spectrum disorders

scientific article

High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters

scientific article

Hypolocomotor effects of acute and daily d-amphetamine in mice lacking the dopamine transporter

scientific article

Increased rate of twins among affected sibling pairs with autism

scientific article published on May 2002

Increased rewarding properties of morphine in dopamine-transporter knockout mice

scientific article published on May 2000

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Introduction

Investigation of two variants in the DOPA decarboxylase gene in patients with autism

scientific article

Linkage and association of the glutamate receptor 6 gene with autism

scientific article published on January 2002

Loss of VGLUT1 and VGLUT2 in the prefrontal cortex is correlated with cognitive decline in Alzheimer disease

scientific article

Magnetic field effects on stress-induced analgesia in mice: modulation by light

scientific article published on 01 December 1994

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

scientific article

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

scientific article

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

scientific article

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

scientific article

Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls

scientific article

Mutation screening of the ARX gene in patients with autism

scientific article published on March 2007

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

scientific article

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

scientific article

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

scientific article

Natural killer cell activity is associated with brain asymmetry in male mice

scientific article published in June 1991

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism

scientific article

Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability

scientific article published on 12 April 2012

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature

scientific article published on 24 December 2019

Neurotensin gene expression and behavioral responses following administration of psychostimulants and antipsychotic drugs in dopamine D(3) receptor deficient mice

scientific article

No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects

scientific article

Nonpeptide antagonists of neuropeptide receptors: tools for research and therapy.

scientific article published on October 1997

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features

scientific article

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

scientific article published in September 2010

Parallel loss of hippocampal LTD and cognitive flexibility in a genetic model of hyperdopaminergia

scientific article published on 7 March 2007

Patterns and rates of exonic de novo mutations in autism spectrum disorders

scientific article

Platelet serotonergic markers as endophenotypes for obsessive-compulsive disorder

scientific article published in August 2005

Possible association between the androgen receptor gene and autism spectrum disorder

scientific article

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

scientific article published on 11 June 2013

Recessive gene disruptions in autism spectrum disorder

scientific article published on 17 June 2019

Reduced 3-O-methyl-dopa levels in OCD patients and their unaffected parents is associated with the low activity M158 COMT allele

scientific article published on March 2010

Regulation of the neurotensin NT(1) receptor in the developing rat brain following chronic treatment with the antagonist SR 48692

scientific article published on May 2000

Repeated administration of the neurotensin receptor antagonist SR 48692 differentially regulates mesocortical and mesolimbic dopaminergic systems.

scientific article published on September 1998

Response to Visscher.

scientific article published in October 2002

Rigor in science and science reporting: updated guidelines for submissions to

scientific article published on 04 February 2019

Role of dopamine D3 receptors in thermoregulation: a reappraisal

scientific article

Role of endogenous neurotensin in the behavioral and neuroendocrine effects of cocaine

scientific article published on October 1998

SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

scientific article published on 11 June 2013

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders

scientific article published on 17 March 2009

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

scientific article

Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder

scientific article published in January 2002

Sex-dependent association between immune function and paw preference in two substrains of C3H mice

scientific article published in September 1991

Shared executive dysfunctions in unaffected relatives of patients with autism and obsessive-compulsive disorder

scientific article published on 28 November 2006

Steroid effects on brain functions: an example of the action of glucocorticoids on central dopaminergic and neurotensinergic systems.

scientific article published on November 1995

Strain and sex differences in the degree of paw preference in mice

scientific article published in October 1991

Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder

scientific article (published 2005-12-01)

Synaptic Disorders

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

scientific article published on 14 January 2016

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

scientific article

The reinforcing effects of chronic D-amphetamine and morphine are impaired in a line of memory-deficient mice overexpressing calcineurin

scientific article published on June 2005

Tissue distribution and cellular localization of the levocabastine-sensitive neurotensin receptor mRNA in adult rat brain

scientific article

Use of nonpeptide antagonists to explore the physiological roles of neurotensin. Focus on brain neurotensin/dopamine interactions.

scientific article

Viral vector-mediated Cre recombinase expression in substantia nigra induces lesions of the nigrostriatal pathway associated with perturbations of dopamine-related behaviors and hallmarks of programmed cell death

scientific article published on 27 March 2019

Y chromosome haplogroups in autistic subjects

scientific article published in January 2002

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