• Refine your search:
  • 
    Keyword
  • 
    Creator / Publisher:
    
    • Akshoomoff, Natacha (2)
    • Amaral, David G (2)
    • Bartsch, Hauke (2)
    • Bloss, Cinnamon S (2)
    • Brown, Timothy T (2)
    • Casey, BJ (2)
    • Chang, Linda (2)
    • Dale, Anders M (2)
    • Darst, Burcu F (2)
    • Eicher, John D (2)
    •   more
  • 
    Year
  • 
    Medium
  • 
    Type:
    
    • Article (6)
  • 
    BLLDB-Access

Search in the Catalogues and Directories

All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 6 of 6 1 De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects Accogli, Andrea; Calabretta, Sara; St-Onge, Judith... In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal.umontpellier.fr/hal-02556784 ; American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (4), pp.854-868. &#x27E8;10.1016/j.ajhg.2019.09.005&#x27E9; (2019) BASE Show details 2 Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children. Eicher, John D; Montgomery, Angela M; Akshoomoff, Natacha... In: Brain imaging and behavior, vol 10, iss 1 (2016) BASE Show details 3 Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children. Eicher, John D; Montgomery, Angela M; Akshoomoff, Natacha... In: Brain imaging and behavior, vol 10, iss 1 (2016) BASE Show details 4 Development of an autism severity score for mice using Nlgn4 null mutants as a construct-valid model of heritable monogenic autism El-Kordi, Ahmed; Winkler, Daniela; Hammerschmidt, Kurt; Kästner, Anne; Krueger, Dilja; Ronnenberg, Anja; Ritter, Caroline; Jatho, Jasmin; Radyushkin, Konstantin; Bourgeron, Thomas; Fischer, Julia; Brose, Nils; Ehrenreich, Hannelore In: ISSN: 0166-4328 ; EISSN: 1872-7549 ; Behavioural Brain Research ; https://hal-pasteur.archives-ouvertes.fr/pasteur-01580131 ; Behavioural Brain Research, Elsevier, 2013, 251 (1), pp.41 - 49. &#x27E8;10.1016/j.bbr.2012.11.016&#x27E9; (2013) Abstract: International audience ; Autism is the short name of a complex and heterogeneous group of disorders (autism spectrum disorders, ASD) with several lead symptoms required for classification, including compromised social interaction, reduced verbal communication and stereotyped repetitive behaviors/restricted interests. The etiology of ASD is still unknown in most cases but monogenic heritable forms exist that have provided insights into ASD pathogenesis and have led to the notion of autism as a 'synapse disorder'. Among the most frequent monogenic causes of autism are loss-of-function mutations of the NLGN4X gene which encodes the synaptic cell adhesion protein neuroligin-4X (NLGN4X). We previously described autism-like behaviors in male Nlgn4 null mutant mice, including reduced social interaction and ultrasonic communication. Here, we extend the phenotypical characterization of Nlgn4 null mutant mice to both genders and add a series of additional autism-relevant behavioral readouts. We now report similar social interaction and ultrasonic communication deficits in females as in males. Furthermore, aggression, nest-building parameters, as well as self-grooming and circling as indicators of repetitive behaviors/stereotypies were explored in both genders. The construction of a gender-specific autism severity composite score for Nlgn4 mutant mice markedly diminishes population/sample heterogeneity typically obtained for single tests, resulting in p values of <0.00001 and a genotype predictability of 100% for male and of >83% for female mice. Taken together, these data underscore the similarity of phenotypical consequences of Nlgn4/NLGN4X loss-of-function in mouse and man, and emphasize the high relevance of Nlgn4 null mutant mice as an ASD model with both construct and face validity. Keyword: [SCCO]Cognitive science; [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health; [SDV]Life Sciences [q-bio]; Animal; ASD; Gender differences; Grooming; Knockout; MESH: Animals; MESH: Autistic Disorder; MESH: Behavior; MESH: Carrier Proteins; MESH: Cell Adhesion Molecules; MESH: Disease Models; MESH: Female; MESH: Genetic Predisposition to Disease; MESH: Grooming; MESH: Male; MESH: Membrane Proteins; MESH: Mice; MESH: Phenotype; MESH: Severity of Illness Index; MESH: Sex Characteristics; MESH: Social Behavior; MESH: Stereotyped Behavior; MESH: Vocalization; Nest building; Neuronal; Repetitive behaviors; Social interaction; Stereotypies; Ultra-sound vocalization URL: https://doi.org/10.1016/j.bbr.2012.11.016 https://hal-pasteur.archives-ouvertes.fr/pasteur-01580131 BASE Hide details 5 A Semi-Automatic Indexing System for Cell Images ; 2008 IEEE World Congress on Computational Intelligence (WCCI 2008) AHMAD, KHURSHID; Zheng, Choaxin; KELLEHER, DERMOT P. - : IEEE, 2008 BASE Show details 6 Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. Devlin, Bernie; Bennett, Pamela; Dawson, Geraldine... In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 126B, iss 1 (2004) BASE Show details

Mobile view All Catalogues UB Frankfurt Linguistik 0 IDS Mannheim 0 OLC Linguistik 0 UB Frankfurt Retrokatalog 0 DNB Subject Category Language 0 Institut für Empirische Sprachwissenschaft 0 Leibniz-Centre General Linguistics (ZAS) 0 Bibliographies BLLDB 0 BDSL 0 IDS Bibliografie zur deutschen Grammatik 0 IDS Bibliografie zur Gesprächsforschung 0 IDS Konnektoren im Deutschen 0 IDS Präpositionen im Deutschen 0 IDS OBELEX meta 0 MPI-SHH Linguistics Collection 0 MPI for Psycholinguistics 0 Linked Open Data catalogues Annohub 0 Online resources Link directory 0 Journal directory 0 Database directory 0 Dictionary directory 0 Open access documents BASE 6 Linguistik-Repository 0 IDS Publikationsserver 0 Online dissertations 0 Language Description Heritage 0