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

Catalina Betancur , Maryse Canton , Alain Burgos , Bernard Labeeuw , Danielle Gully , et al.
European Journal of Pharmacology, 1998, 343 (1), pp.67-77
Article dans une revue inserm-00276332v1
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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.

Guiqing Cai , Lisa Edelmann , Juliet E. Goldsmith , Ninette Cohen , Alisa Nakamine , et al.
BMC Medical Genomics, 2008, 1, pp.50. ⟨10.1186/1755-8794-1-50⟩
Article dans une revue inserm-00375019v2
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Parallel Loss of Hippocampal LTD and Cognitive Flexibility in a Genetic Model of Hyperdopaminergia.

Elise Morice , Jean-Marie Billard , Cécile Denis , Flavie Mathieu , Catalina Betancur , et al.
Neuropsychopharmacology, 2007, 32 (10), pp.2108-16. ⟨10.1038/sj.npp.1301354⟩
Article dans une revue inserm-00166900v1
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Reduced 3-O-methyl-dopa levels in OCD patients and their unaffected parents is associated with the low activity M158 COMT allele.

Richard Delorme , Catalina Betancur , Pauline Chaste , Solen Kernéis , Astrid Stopin , et al.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2010, 153B (2), pp.542-8. ⟨10.1002/ajmg.b.31016⟩
Article dans une revue inserm-00474052v1
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La genetique de l'autisme

Stéphane Jamain , Catalina Betancur , Bruno Giros , Marion Leboyer , Thomas Bourgeron
Médecine/Sciences, 2003, 19 (11), pp.1081-90. ⟨10.1051/medsci/200319111081⟩
Article dans une revue inserm-00125099v1
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High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters.

Pauline Chaste , Catalina Betancur , Marion Gérard-Blanluet , Anne Bargiacchi , Suzanne Kuzbari , et al.
Molecular Autism, 2012, 3 (1), pp.5. ⟨10.1186/2040-2392-3-5⟩
Article dans une revue inserm-00733073v1
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Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.

Joseph D. Buxbaum , Guiqing Cai , Gudrun Nygren , Pauline Chaste , Richard Delorme , et al.
BMC Medical Genetics, 2007, 8, pp.68. ⟨10.1186/1471-2350-8-68⟩
Article dans une revue inserm-00276438v1
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An investigation of ribosomal protein L10 gene in autism spectrum disorders.

Xiaohong Gong , Richard Delorme , Fabien Fauchereau , Christelle M. Durand , Pauline Chaste , et al.
BMC Medical Genetics, 2009, 10, pp.7. ⟨10.1186/1471-2350-10-7⟩
Article dans une revue inserm-00374531v2
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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Silvia de Rubeis , Paige M Siper , Allison Durkin , Jordana Weissman , François Muratet , et al.
Molecular Autism, 2018, 9, pp.31. ⟨10.1186/s13229-018-0205-9⟩
Article dans une revue inserm-01854988v1
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Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain

Alejandro Orrico-Sanchez , Bruno Guiard , Stella Manta , Jacques Callebert , Jean-Marie Launay , et al.
Translational Psychiatry, 2023, 13 (1), pp.302. ⟨10.1038/s41398-023-02596-y⟩
Article dans une revue inserm-04224977v1

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

C. O'Dushlaine , L. Rossin , H. Lee P. , L. Duncan , N. Parikshak N. , et al.
Nature Neuroscience, 2015, 18 (2), pp.199-209. ⟨10.1038/nn.3922⟩
Article dans une revue hal-01548830v1