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Household transmission of Neisseria meningitidis in the African meningitis belt: a longitudinal cohort study
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In: ISSN: 2214-109X ; The Lancet global health ; https://hal-riip.archives-ouvertes.fr/pasteur-03238489 ; The Lancet global health, Elsevier, 2016, 4 (12), pp.e989-e995. ⟨10.1016/S2214-109X(16)30244-3⟩ (2016)
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| 2 |
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
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Thevenon, Julien; Souchay, Céline; Seabold, Gail K; Dygai-Cochet, Inna; Callier, Patrick; Gay, Sébastien; Corbin, Lucie; Duplomb, Laurence; Thauvin-Robinet, Christel; Masurel-Paulet, Alice; El Chehadeh, Salima; Avila, Magali; Minot, Delphine; Guedj, Eric; Chancenotte, Sophie; Bonnet, Marlène; Lehalle, Daphne; Wang, Ya-Xian; Kuentz, Paul; Huet, Frédéric; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Petralia, Ronald S; Faivre, Laurence
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In: ISSN: 1018-4813 ; EISSN: 1476-5438 ; European Journal of Human Genetics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01405814 ; European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.911 - 918. ⟨10.1038/ejhg.2015.221⟩ ; http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015221a.html (2016)
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Abstract:
International audience ; Learning disabilities (LDs) are a clinically and genetically heterogeneous group of diseases. Array-CGH and high-throughput sequencing have dramatically expanded the number of genes implicated in isolated intellectual disabilities and LDs, highlighting the implication of neuron-specific post-mitotic transcription factors and synaptic proteins as candidate genes. We report a unique family diagnosed with autosomal dominant learning disability and a 6p21 microdeletion segregating in three patients. The 870 kb microdeletion encompassed the brain-expressed gene LRFN2, which encodes for a synaptic cell adhesion molecule. Neuropsychological assessment identified selective working memory deficits, with borderline intellectual functioning. Further investigations identified a defect in executive function, and auditory-verbal processes. These data were consistent with brain MRI and FDG-PET functional brain imaging, which, when compared with controls, revealed abnormal brain volume and hypometabolism of gray matter structures implicated in working memory. We performed electron microscopy immunogold labeling demonstrating the localization of LRFN2 at synapses of cerebellar and hippocampal rat neurons, often associated with the NR1 subunit of N-methyl-D-aspartate receptors (NMDARs). Altogether, the combined approaches imply a role for LRFN2 in LD, specifically for working memory processes and executive function. In conclusion, the identification of familial cases of clinically homogeneous endophenotypes of LD might help in both the management of patients and genetic counseling for families.
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Keyword:
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology; adhesion-like molecules; autism; disorders; down-syndrome; expression; family; language; nmda receptor; short-term; speech
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URL: https://doi.org/10.1038/ejhg.2015.221
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01405814
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| 3 |
Fall Like a Man
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In: http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1460115929 (2016)
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| 4 |
The Finney County, Kansas Community Assessment Process: Fact Book
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In: NPP eBooks (2016)
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| 5 |
HOSTING AN INTERNATIONAL EXCHANGE YOUTH ... : THE INFLUENCE ON THE FAMILY ...
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| 6 |
Feeding without Apology: Maternal Navigations of Distal Discourses in Family Meal Labour
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In: ETSU Faculty Works (2016)
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| 7 |
Criticizing another’s child: How teachers evaluate students during parent-teacher conferences
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In: Communication Scholarship (2016)
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| 8 |
Developing and Implementing a LGBT Family Studies Course: A Pre-Post Evaluation
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In: Doctoral Dissertations (2016)
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| 9 |
Policy Brief No. 11 - British Columbia ESL Policy Reform: Reduces Costs and Maintains Student Outcomes
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In: Population Change and Lifecourse Strategic Knowledge Cluster Research/Policy Brief (2016)
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| 10 |
Exploring the Intersection of Education and Indigenous Status from a Social Determinants of Health Perspective: Parent and Family Engagement in Secondary School in Nunavik
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In: The International Indigenous Policy Journal (2016)
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| 11 |
Research Brief No. 21 - Academic Performance and Educational Pathways of Allophone Youth: A Comparative Analysis of Montreal, Toronto, and Vancouver
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In: Population Change and Lifecourse Strategic Knowledge Cluster Research/Policy Brief (2016)
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| 12 |
HOSTING AN INTERNATIONAL EXCHANGE YOUTH: THE INFLUENCE ON THE FAMILY
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In: Theses and Dissertations--Family Sciences (2016)
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| 13 |
Romantic Relationship Experiences from Late Adolescence to Young Adulthood: The Role of Older Siblings in Mexican-Origin Families
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In: Faculty Publications from Nebraska Center for Research on Children, Youth, Families, and Schools (2016)
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| 14 |
Family Influences on Mexican American Adolescents’ Romantic Relationships: Moderation by Gender and Culture
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In: Faculty Publications from Nebraska Center for Research on Children, Youth, Families, and Schools (2016)
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| 15 |
Paradigm Shift: Sex Education
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In: Nebraska College Preparatory Academy Senior Capstone Projects (2016)
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| 16 |
Bicultural Competence and the Latino 2.5 Generation: The Acculturative Advantages and Challenges of Having One Foreign-Born and One U.S.-Born Parent
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In: Faculty Publications from Nebraska Center for Research on Children, Youth, Families, and Schools (2016)
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| 17 |
Interactive Effects within the Prototype Willingness Model: Predicting the Drinking Behavior of Indigenous Early Adolescents
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In: Sociology Department, Faculty Publications (2016)
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