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Developmental screening using caregiver report: an evaluation of screening tools and childhood developmental delays in South Africa ...
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Developmental screening using caregiver report: an evaluation of screening tools and childhood developmental delays in South Africa ...
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Still connecting the dots : an investigation into infants' attentional bias to threat using an eye-tracking task
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“Do environmental contaminant substances have potential negative effect on children´s speech, language, and communication? A systematic review” ...
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Shared Language Erosion: Rethinking Immigrant Family Communication and Impacts on Youth Development
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In: Human Development and Family Studies Publications (2021)
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[In Press] Sympathetic nervous system functioning during the face-to-face still-face paradigm in the first year of life
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Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors.
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In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020)
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Health comorbidities and cognitive abilities across the lifespan in Down syndrome. ...
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Health comorbidities and cognitive abilities across the lifespan in Down syndrome.
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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Time Points: A Gestural Study of the Development of Space-Time Mappings.
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In: Cognitive science, vol 43, iss 12 (2019)
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| 12 |
Neuroscientific insights into the development of analogical reasoning.
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In: Developmental science, vol 21, iss 2 (2018)
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Community-Based Health and Exposure Study around Urban Oil Developments in South Los Angeles.
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In: International journal of environmental research and public health, vol 15, iss 1 (2018)
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| 14 |
Finding meaning in a noisy world: exploring the effects of referential ambiguity and competition on 2·5-year-olds' cross-situational word learning.
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In: Journal of child language, vol 44, iss 3 (2017)
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
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Zhang, Jing; Gambin, Tomasz; Yuan, Bo; Szafranski, Przemyslaw; Rosenfeld, Jill; Al Balwi, Mohammed; Alswaid, Abdulrahman; Al-Gazali, Lihadh; Al Shamsi, Aisha M; Komara, Makanko; Ali, Bassam; Roeder, Elizabeth; McAuley, Laura; Roy, Daniel; Manchester, David; Magoulas, Pilar; King, Lauren; Hannig, Vickie; Bonneau, Dominique; Denommé-Pichon, Anne-Sophie; Charif, Majida; Besnard, Thomas; Bezieau, Stéphane; Cogné, Benjamin; Andrieux, Joris; Zhu, Wenmiao; He, Weimin; Vetrini, Francesco; Ward, Patricia; Wai Cheung, Sau; Bi, Weimin; Eng, Christine; Lupski, James; Yang, Yaping; Patel, Ankita; Lalani, Seema; Xia, Fan; Stankiewicz, Paweł
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In: ISSN: 1432-1203 ; Hum Genet ; https://hal.archives-ouvertes.fr/hal-02104155 ; Hum Genet, 2017, 136, pp.377-386. ⟨10.1007/s00439-017-1763-1⟩ ; https://link.springer.com/article/10.1007/s00439-017-1763-1 (2017)
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Abstract:
International audience ; Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzyme genes USP7 and USP9X has been reported in patients with neurodevelopmental delays. To date, only a handful of single-nucleotide variants (SNVs) and copy-number variants (CNVs) involving TRIP12, encoding a member of the HECT domain E3 ubiquitin ligases family on chromosome 2q36.3 have been reported. Using chromosomal microarray analysis and whole-exome sequencing (WES), we have identified, respectively, five deletion CNVs and four inactivating SNVs (two frameshifts, one missense, and one splicing) in TRIP12. Seven of these variants were found to be de novo; parental studies could not be completed in two families. Quantitative PCR analyses of the splicing mutation showed a dramatically decreased level of TRIP12 mRNA in the proband compared to the family controls, indicating a loss-of-function mechanism. The shared clinical features include intellectual disability with or without autistic spectrum disorders, speech delay, and facial dysmorphism. Our findings demonstrate that E3 ubiquitin ligase TRIP12 plays an important role in nervous system development and function. The nine presented pathogenic variants further document that TRIP12 haploinsufficiency causes a childhood-onset neurodevelopmental disorder. Finally, our data enable expansion of the phenotypic spectrum of ubiquitin-proteasome dependent disorders.
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Keyword:
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology; Adolescent; Autism Spectrum Disorder; Carrier Proteins; Child; Cohort Studies; DNA Copy Number Variations; Facies; Female; Haploinsufficiency; Humans; Infant; Intellectual Disability; Language Development Disorders; Male; Preschool; Ubiquitin-Protein Ligases
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URL: https://hal.archives-ouvertes.fr/hal-02104155
https://doi.org/10.1007/s00439-017-1763-1
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Language Development and Impairment in Children With Mild to Moderate Sensorineural Hearing Loss. ...
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Language Development and Impairment in Children With Mild to Moderate Sensorineural Hearing Loss.
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Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children.
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In: Brain imaging and behavior, vol 10, iss 1 (2016)
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Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children.
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In: Brain imaging and behavior, vol 10, iss 1 (2016)
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Language problems among maltreated children : A meta-analytic review.
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