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Discriminant value of repetitive behaviors in families with autism spectrum disorder and obsessional compulsive disorder probands
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In: ISSN: 1939-3806 ; EISSN: 1939-3806 ; Autism Research ; https://hal-pasteur.archives-ouvertes.fr/pasteur-03325346 ; Autism Research, International Society for Autism Research, Wiley Periodicals, Inc., 2021, pp.Online Version of Record before inclusion in an issue. ⟨10.1002/aur.2570⟩ (2021)
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Early and very early‐onset schizophrenia compared with adult‐onset schizophrenia: French FACE‐SZ database
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In: ISSN: 2162-3279 ; EISSN: 2162-3279 ; Brain and Behavior ; https://hal-amu.archives-ouvertes.fr/hal-02473667 ; Brain and Behavior, Wiley Open Access, 2020, ⟨10.1002/brb3.1495⟩ (2020)
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| 3 |
Trustworthiness and Dominance Personality Traits’ Judgments in Adults with Autism Spectrum Disorder
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In: ISSN: 0162-3257 ; EISSN: 1573-3432 ; Journal of Autism and Developmental Disorders ; https://hal.archives-ouvertes.fr/hal-03256352 ; Journal of Autism and Developmental Disorders, Springer Verlag, 2019, 49 (11), pp.4535-4546. ⟨10.1007/s10803-019-04163-1⟩ (2019)
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| 4 |
Relationship between childhood trauma and level of insight in schizophrenia: A path-analysis in the national FACE-SZ dataset
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In: ISSN: 0920-9964 ; Schizophrenia Research ; https://hal-amu.archives-ouvertes.fr/hal-02473660 ; Schizophrenia Research, Elsevier, 2019, 208, pp.90-96. ⟨10.1016/j.schres.2019.04.006⟩ (2019)
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Metabolic Syndrome and Illness Severity Predict Relapse at 1-Year Follow-Up in Schizophrenia
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In: ISSN: 0160-6689 ; Journal of Clinical Psychiatry ; https://hal.uca.fr/hal-01915313 ; Journal of Clinical Psychiatry, Physicians Postgraduate Press, 2018, 79 (6), ⟨10.4088/JCP.17m12007⟩ (2018)
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Outcomes for bipolar patients assessed in the French expert center network: A 2-year follow-up observational study (FondaMental Advanced Centers of Expertise for Bipolar Disorder [FACE-BD])
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In: ISSN: 1398-5647 ; EISSN: 1399-5618 ; Bipolar Disorders ; https://hal.archives-ouvertes.fr/hal-01676283 ; Bipolar Disorders, Wiley, 2017, 19 (8), pp.651 - 660. ⟨10.1111/bdi.12539⟩ (2017)
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| 7 |
Neuropsychological functioning, age, and medication adherence in bipolar disorder
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In: ISSN: 1932-6203 ; EISSN: 1932-6203 ; PLoS ONE ; https://hal.archives-ouvertes.fr/hal-01676202 ; PLoS ONE, Public Library of Science, 2017, 12 (9), ⟨10.1371/journal.pone.0184313⟩ (2017)
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| 8 |
Chronic Peripheral Inflammation is Associated With Cognitive Impairment ă in Schizophrenia: Results From the Multicentric FACE-SZ Dataset
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In: ISSN: 0586-7614 ; EISSN: 1745-1707 ; Schizophrenia Bulletin ; https://hal.archives-ouvertes.fr/hal-01482349 ; Schizophrenia Bulletin, Oxford University Press (OUP), 2016, 42 (5), pp.1290-1302. ⟨10.1093/schbul/sbw029⟩ (2016)
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| 9 |
Individuals with autism spectrum disorders do not use social stereotypes in irony comprehension.
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In: ISSN: 1932-6203 ; EISSN: 1932-6203 ; PLoS ONE ; https://www.hal.inserm.fr/inserm-00998131 ; PLoS ONE, Public Library of Science, 2014, 9 (4), pp.e95568. ⟨10.1371/journal.pone.0095568⟩ (2014)
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| 10 |
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.
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Leblond, Claire,; Nava, Caroline; Polge, Anne; Gauthier, Julie; Huguet, Guillaume; Lumbroso, Serge; Giuliano, Fabienne; Stordeur, Coline; Depienne, Christel; Mouzat, Kevin; Pinto, Dalila; Howe, Jennifer; Lemière, Nathalie; Durand, Christelle,; Guibert, Jessica; Ey, Elodie; Toro, Roberto; Peyre, Hugo; Mathieu, Alexandre; Amsellem, Frédérique; Rastam, Maria; Gillberg, Carina,; Rappold, Gudrun,; Holt, Richard; Monaco, Anthony,; Maestrini, Elena; Galan, Pilar; Heron, Delphine; Jacquette, Aurélia; Afenjar, Alexandra; Rastetter, Agnès; Brice, Alexis; Devillard, Françoise; Assouline, Brigitte; Laffargue, Fanny; Lespinasse, James; Chiesa, Jean; Rivier, Francois; Bonneau, Dominique; Regnault, Beatrice; Zelenika, Diana; Délépine, Marc; Lathrop, Mark; Sanlaville, Damien; Schluth-Bolard, Caroline; Edery, Patrick; Perrin, Laurence; Tabet, Anne Claude; Schmeisser, Michael,; Boeckers, Tobias,; Coleman, Mary; Sato, Daisuke; Szatmari, Peter; Scherer, Stephen,; Rouleau, Guy,; Betancur, Catalina; Leboyer, Marion; Gillberg, Christopher; Delorme, Richard; Bourgeron, Thomas
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In: ISSN: 1553-7390 ; EISSN: 1553-7404 ; PLoS Genetics ; https://www.hal.inserm.fr/inserm-01061498 ; PLoS Genetics, Public Library of Science, 2014, 10 (9), pp.e1004580. ⟨10.1371/journal.pgen.1004580⟩ (2014)
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Abstract:
International audience ; SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
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Keyword:
[SDV.GEN]Life Sciences [q-bio]/Genetics
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URL: https://www.hal.inserm.fr/inserm-01061498/file/Leblond_SHANK_mutations_in_ASD_PLoS_Genet_2014.pdf
https://www.hal.inserm.fr/inserm-01061498/document
https://www.hal.inserm.fr/inserm-01061498
https://doi.org/10.1371/journal.pgen.1004580
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| 11 |
Individuals with Autism Spectrum Disorders Do Not Use Social Stereotypes in Irony Comprehension
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| 12 |
Individual common variants exert weak effects on the risk for autism spectrum disorders.
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In: Human molecular genetics, vol 21, iss 21 (2012)
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| 13 |
Individual common variants exert weak effects on the risk for autism spectrum disorders.
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In: ISSN: 0964-6906 ; EISSN: 1460-2083 ; Human Molecular Genetics ; https://www.hal.inserm.fr/inserm-00723650 ; Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (21), pp.4781-92. ⟨10.1093/hmg/dds301⟩ (2012)
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| 14 |
Individual common variants exert weak effects on the risk for autism spectrum disorders
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| 15 |
Individual common variants exert weak effects on risk for Autism Spectrum Disorders
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| 16 |
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
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| 17 |
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
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| 18 |
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
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| 20 |
Autism, language delay and mental retardation in a patient with 7q11 duplication. ; : Autism and 7q11 duplication
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In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://www.hal.inserm.fr/inserm-00166907 ; Journal of Medical Genetics, BMJ Publishing Group, 2007, 44 (7), pp.452-8. ⟨10.1136/jmg.2006.047092⟩ (2007)
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