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The Effect of Constant Time Delay and Sentence Frames on Correct Word Selection for Sentences Constructed Using Technology-Aided Instruction During a Story-Based Lesson
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In: Electronic Theses and Dissertations (2022)
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Skraban-Deardorff syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype
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In: ISSN: 0009-9163 ; EISSN: 1399-0004 ; Clinical Genetics ; https://hal.archives-ouvertes.fr/hal-03134882 ; Clinical Genetics, Wiley, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩ (2021)
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
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den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J.M.; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan; Banka, Siddharth; Bena, Frederique; Ben-Zeev, Bruria; Bonagura, Vincent; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han; Chew, Hui; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy; PARKER, Michael; Petersen, Andrea; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca; Stegmann, Alexander P.A.; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-dos-Santos, Juliana; Schrier Vergano, Samantha; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon; Vissers, Lisenka E.L.M.
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In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal-univ-rennes1.archives-ouvertes.fr/hal-03268683 ; American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (2), pp.346-356. ⟨10.1016/j.ajhg.2021.01.007⟩ (2021)
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Abstract:
International audience ; Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression, and a severe phenotype. In contrast, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.
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Keyword:
[SDV.GEN]Life Sciences [q-bio]/Genetics; cell-based functional assays; de novo variants; HPO-based analysis; intellectual disability; neurodevelopmental disorders; SATB1; seizures; teeth abnormalities
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URL: https://doi.org/10.1016/j.ajhg.2021.01.007
https://hal-univ-rennes1.archives-ouvertes.fr/hal-03268683
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Music Therapy for Children With Autistic Spectrum Disorder and/or Other Neurodevelopmental Disorders: A Systematic Review
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In: ISSN: 1664-0640 ; Frontiers in Psychiatry ; https://hal.sorbonne-universite.fr/hal-03213301 ; Frontiers in Psychiatry, Frontiers, 2021, 12, pp.643234. ⟨10.3389/fpsyt.2021.643234⟩ (2021)
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Rapid automatized naming skills of children with intellectual disability
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In: ISSN: 2405-8440 ; Heliyon ; https://hal.archives-ouvertes.fr/hal-03395923 ; Heliyon, Elsevier 2021, 7 (5), pp.e06944. ⟨10.1016/j.heliyon.2021.e06944⟩ (2021)
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The Cognitive and Linguistic Abilities of Bilinguals with Genetic Disorders: The Prader-Willi Syndrome Population ...
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LANGUAGE DEVELOPMENT OF CHILDEN WITH INTELLECTUAL DISABILITY: A REVIEW OF RESEARCH STUDIES IN THAILAND AND THE INTERNATIONAL ARENA ...
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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
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| 10 |
A descriptive study on reading instruction provided to students with intellectual disability
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In: ISSN: 1744-6295 ; Journal of intellectual disabilities, Vol. 25 (2021) pp. 1-19 (2021)
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| 11 |
Infantilisation in care, community and cognitive disability
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| 12 |
The Cognitive and Linguistic Abilities of Bilinguals with Genetic Disorders: The Prader-Willi Syndrome Population
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| 13 |
Propuesta de Intervención Inclusiva para la mejora del Lenguaje en un alumno con Discapacidad Intelectual
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| 14 |
Interpretation of ambiguous pronouns in adults with intellectual disabilities
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In: Special Education and Communication Disorders Faculty Publications (2021)
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The inter-relationships between cerebral visual impairment, autism and intellectual disability
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In: ISSN: 1873-7528 ; Neuroscience & Biobehavioral Reviews ; https://hal.archives-ouvertes.fr/hal-03026222 ; Neuroscience & Biobehavioral Reviews, Oxford: Elsevier Ltd., 2020, 114, pp.201-210. ⟨10.1016/j.neubiorev.2020.04.008⟩ (2020)
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| 16 |
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
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In: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.umontpellier.fr/hal-03338019 ; European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩ (2020)
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| 17 |
Designing an IIR Research Apparatus with Users with Severe Intellectual Disability
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In: ACM SIGIR Conference on Human Information Interaction and Retrieval (CHIIR) ; https://hal-amu.archives-ouvertes.fr/hal-02470797 ; ACM SIGIR Conference on Human Information Interaction and Retrieval (CHIIR), Mar 2020, Vancouver, Canada. pp.412-416, ⟨10.1145/3343413.3378008⟩ (2020)
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| 18 |
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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| 19 |
Improving Reading Comprehension for Students With Intellectual Disability: The Effectiveness of the Main Idea and Self-Monitoring Strategy
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| 20 |
Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment
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In: Brain Sciences ; Volume 10 ; Issue 4 (2020)
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