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

 Alireza Kashani , Catalina Betancur , Bruno Giros , Etienne C. Hirsch , Salah El Mestikawy
Neurobiol Aging, 2007, 28 (4), pp.568-78. ⟨10.1016/j.neurobiolaging.2006.02.010⟩
Article dans une revue inserm-00154872v1
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Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.

 Hyun Ji Noh , Chris P. Ponting , Hannah C. Boulding , Stephen Meader , Catalina Betancur , et al.
PLoS Genetics, 2013, 9 (6), pp.e1003523. ⟨10.1371/journal.pgen.1003523⟩
Article dans une revue inserm-00834559v1
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Autism, language delay and mental retardation in a patient with 7q11 duplication.

 Christel Depienne , Delphine Héron , Catalina Betancur , Baya Benyahia , Oriane Trouillard , et al.
Journal of Medical Genetics, 2007, 44 (7), pp.452-8. ⟨10.1136/jmg.2006.047092⟩
Article dans une revue inserm-00166907v1
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Investigation of two variants in the DOPA decarboxylase gene in patients with autism.

 Marlene B. Lauritsen , Anders D. Børglum , Catalina Betancur , Anne Philippe , Torben A. Kruse , et al.
Am J Med Genet, 2002, 114 (4), pp.466-70. ⟨10.1002/ajmg.10379⟩
Article dans une revue inserm-00124738v1
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Possible association between the androgen receptor gene and autism spectrum disorder.

 Susanne Henningsson , Lina Jonsson , Elin Ljunggren , Lars Westberg , Carina Gillberg , et al.
Psychoneuroendocrinology, 2009, 34 (5), pp.752-61. ⟨10.1016/j.psyneuen.2008.12.007⟩
Article dans une revue inserm-00390382v1
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The reinforcing effects of chronic D-amphetamine and morphine are impaired in a line of memory-deficient mice overexpressing calcineurin.

 Grazyna Biala , Catalina Betancur , Isabelle M. Mansuy , Bruno Giros
European Journal of Neuroscience, 2005, 21 (11), pp.3089-96. ⟨10.1111/j.1460-9568.2005.04132.x⟩
Article dans une revue inserm-00276426v1
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Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature

 Alexander Kolevzon , Elsa Delaby , Elizabeth Berry-Kravis , Joseph D. Buxbaum , Catalina Betancur
Molecular Autism, 2019, 10, pp.50. ⟨10.1186/s13229-019-0291-3⟩
Article dans une revue hal-02433655v1
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

 Jack Fu , F. Kyle Satterstrom , Minshi Peng , Harrison Brand , Ryan Collins , et al.
Nature Genetics, 2022, 54 (9), pp.1320-1331. ⟨10.1038/s41588-022-01104-0⟩
Article dans une revue inserm-03949950v1
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

 The Autism Spectrum Disorders Working Group Of The Psychiatric Genomics Consortium , Richard J L Anney , Stephan Ripke , Verneri Anttila , Jakob Grove , et al.
Molecular Autism, 2017, 8, pp.21. ⟨10.1186/s13229-017-0137-9⟩
Article dans une revue inserm-01535717v1
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Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

 Joseph D. Buxbaum , Guiqing Cai , Pauline Chaste , Gudrun Nygren , Juliet E. Goldsmith , et al.
Am J Med Genet B Neuropsychiatr Genet., 2007, 144 (4), pp.484-91. ⟨10.1002/ajmg.b.30493⟩
Article dans une revue inserm-00125293v1
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Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder.

 Richard Delorme , Catalina Betancur , Michael Wagner , Marie-Odile Krebs , Philip Gorwood , et al.
Molecular Psychiatry, 2005, 10 (12), pp.1059-61. ⟨10.1038/sj.mp.4001728⟩
Article dans une revue inserm-00125111v1
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No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects.

 Richard Delorme , Christelle M. Durand , Catalina Betancur , Michael Wagner , Stephan Ruhrmann , et al.
Biological Psychiatry, 2006, 60 (2), pp.202-3. ⟨10.1016/j.biopsych.2005.12.014⟩
Article dans une revue inserm-00124742v1
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Analysis of X chromosome inactivation in autism spectrum disorders.

 Xiaohong Gong , Elena Bacchelli , Francesca Blasi , Claudio Toma , Catalina Betancur , et al.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2008, 147B (6), pp.830-5. ⟨10.1002/ajmg.b.30688⟩
Article dans une revue inserm-00276460v1
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Chapter 1 - Introduction. The Neurology of Autism, edited by Mary Coleman

 Mary Coleman , Catalina Betancur
Mary Coleman. The Neurology of Autism, Oxford University Press, pp.3-39, 2005
Chapitre d'ouvrage inserm-00968329v1
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Clinical utility gene card for: Deletion 22q13 syndrome

 Katy Phelan , Catalina Betancur
European Journal of Human Genetics, 2011, 19 (4), pp.492-492. ⟨10.1038/ejhg.2010.193⟩
Article dans une revue inserm-03135344v1
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Etiological heterogeneity in autism spectrum disorders: role of rare variants

 Catalina Betancur , Mary Coleman
Joseph D. Buxbaum, Patrick R. Hof. The Neuroscience of Autism Spectrum Disorders, Academic Press, pp.113-144, 2013
Chapitre d'ouvrage inserm-00968357v1
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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

 Erin Rooney Riggs , Taylor Bingaman , Carrie-Ann Barry , Andrea Behlmann , Krista Bluske , et al.
2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
Article dans une revue inserm-03816347v1
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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

 Claire S. Leblond , Jutta Heinrich , Richard Delorme , Christian Proepper , Catalina Betancur , et al.
PLoS Genetics, 2012, 8 (2), pp.e1002521. ⟨10.1371/journal.pgen.1002521⟩
Article dans une revue inserm-00834560v1
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The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

 Anne-Claire Richard , Anne Rovelet-Lecrux , Elsa Delaby , Camille Charbonnier , Bhooma Thiruvahindrapuram , et al.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2016, 171B (3), pp.377-82. ⟨10.1002/ajmg.b.32416⟩
Article dans une revue inserm-01289348v1
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Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes

 Xiao-Qing Liu , Andrew Paterson , Peter Szatmari , Catalina Betancur
Biological Psychiatry, 2008, 64 (7), pp.561-570. ⟨10.1016/j.biopsych.2008.05.023⟩
Article dans une revue inserm-03135336v1
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The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders.

 Catalina Betancur , Takeshi Sakurai , Joseph D Buxbaum
Trends in Neurosciences, 2009, 32 (7), pp.402-412. ⟨10.1016/j.tins.2009.04.003⟩
Article dans une revue inserm-00401195v1
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

 Patrícia B. S. Celestino-Soper , Sara Violante , Emily L. Crawford , Rui Luo , Anath C. Lionel , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012, 109 (21), pp.7974-7981. ⟨10.1073/pnas.1120210109⟩
Article dans une revue inserm-00696112v1
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Exploratory analysis of obsessive compulsive symptom dimensions in children and adolescents: a prospective follow-up study.

 Richard Delorme , Arnaud Bille , Catalina Betancur , Flavie Mathieu , Nadia Chabane , et al.
BMC Psychiatry, 2006, 6, pp.1. ⟨10.1186/1471-244X-6-1⟩
Article dans une revue inserm-00089240v1
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Individual common variants exert weak effects on the risk for autism spectrum disorders.

 Richard Anney , Lambertus Klei , Dalila Pinto , Joana Almeida , Elena Bacchelli , et al.
Human Molecular Genetics, 2012, 21 (21), pp.4781-92. ⟨10.1093/hmg/dds301⟩
Article dans une revue inserm-00723650v1
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Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

 Anne-Claude Tabet , Azzedine Aboura , Marion Gérard , Marion Pilorge , Céline Dupont , et al.
American Journal of Medical Genetics Part A, 2010, 152A (7), pp.1781-8. ⟨10.1002/ajmg.a.33433⟩
Article dans une revue inserm-00520796v1
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Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder.

 Richard Delorme , Daniel Moreno-De-Luca , Aurélie Gennetier , Wolfgang Maier , Pauline Chaste , et al.
BMC Medical Genetics, 2010, 11, pp.100. ⟨10.1186/1471-2350-11-100⟩
Article dans une revue inserm-00520828v1
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Characterization of SLITRK1 Variation in Obsessive-Compulsive Disorder.

 Uzoezi Ozomaro , Guiqing Cai , Yuji Kajiwara , Seungtai Yoon , Vladimir Makarov , et al.
PLoS ONE, 2013, 8 (8), pp.e70376. ⟨10.1371/journal.pone.0070376⟩
Article dans une revue inserm-00871302v1
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Mutation screening of the ARX gene in patients with autism.

 Pauline Chaste , Gudrun Nygren , Henrik Anckarsäter , Maria Råstam , Mary Coleman , et al.
Am J Med Genet B Neuropsychiatr Genet, 2007, 144 (2), pp.228-30. ⟨10.1002/ajmg.b.30440⟩
Article dans une revue inserm-00109595v1
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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

 Christelle M. Durand , Catalina Betancur , Tobias M. Boeckers , Juergen Bockmann , Pauline Chaste , et al.
Nature Genetics, 2007, 39 (1), pp.25-7. ⟨10.1038/ng1933⟩
Article dans une revue inserm-00126175v2
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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

 Jillian P Casey , Tiago Magalhaes , Judith Conroy , Regina Regan , Naisha Shah , et al.
Human Genetics, 2012, 131 (4), pp.565-79. ⟨10.1007/s00439-011-1094-6⟩
Article dans une revue hal-01548905v1
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