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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 Page: 1 2 3 4 Hits 1 – 20 of 73 1 A Bilingual Advantage for Children with Autism: Effect of a Bilingual Education on Set Shifting in Children with Autism Spectrum Disorder O'Reardon, Chandler Flannery In: Senior Projects Spring 2021 (2021) BASE Show details 2 An Examination of Family Dynamics, Parental Responsivity, and Child Communication in Fragile X Syndrome Potter, Sarah Nelson. - : eScholarship, University of California, 2021 BASE Show details 3 The Cognitive and Linguistic Abilities of Bilinguals with Genetic Disorders: The Prader-Willi Syndrome Population ... Garcia Alcaraz, Estela. - : Université d'Ottawa / University of Ottawa, 2021 BASE Show details 4 A systematic review of neural entrainment in language and reading disorders ... Moreau, Christine. - : Open Science Framework, 2021 BASE Show details 5 A descriptive study on reading instruction provided to students with intellectual disability Dessemontet, Rachel Sermier; Linder, Anne-Laure; Martinet, Catherine... In: ISSN: 1744-6295 ; Journal of intellectual disabilities, Vol. 25 (2021) pp. 1-19 (2021) BASE Show details 6 Prosody in Children with Atypical Development Mahshie, James; Simmons, Elizabeth Schoen; Paul, Rhea In: Communication Disorders Faculty Publications (2021) BASE Show details 7 The Cognitive and Linguistic Abilities of Bilinguals with Genetic Disorders: The Prader-Willi Syndrome Population Garcia Alcaraz, Estela. - : Université d'Ottawa / University of Ottawa, 2021 BASE Show details 8 Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors. Del Hoyo Soriano, Laura; Thurman, Angela John; Harvey, Danielle... In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020) BASE Show details 9 Vignetteninterview zur Erfassung des Sprachförderwissens pädagogischer Fachkräfte (VSW) Löffler, Cordula; Koch, Katja; Beckerle, Christine... In: Mackowiak, Katja [Hrsg.]; Beckerle, Christine [Hrsg.]; Gentrup, Sarah [Hrsg.]; Titz, Cora [Hrsg.]: Forschungsinstrumente im Kontext institutioneller (schrift-)sprachlicher Bildung. Bad Heilbrunn : Verlag Julius Klinkhardt 2020, S. 13-32 (2020) BASE Show details 10 Working Memory Processing Times in Children with Fetal Alcohol Spectrum Disorders Cleveland, Elizabeth. - : University of Arkansas for Medical Sciences, 2020 BASE Show details 11 We Need to Talk: A Study Measuring the Impact of an Innovative AAC Intervention on Conversation Management Skills in Young Adults with Autism Spectrum Disorders Leeder, Amanda A.. - : Fordham University, 2020 BASE Show details 12 Visual Inspection of Sequential Data: A Research Instrument for Qualitative Data Analysis ... AlDahdouh, Alaa. - : figshare, 2020 BASE Show details 13 Visual Inspection of Sequential Data: A Research Instrument for Qualitative Data Analysis ... AlDahdouh, Alaa. - : figshare, 2020 BASE Show details 14 We Need to Talk: A Study Measuring the Impact of an Innovative AAC Intervention on Conversation Management Skills in Young Adults with Autism Spectrum Disorders Leeder, Amanda A In: ETD Collection for Fordham University (2020) BASE Show details 15 CATALISE simplified flowchart ... Bishop, Dorothy V M. - : figshare, 2020 BASE Show details 16 CATALISE simplified flowchart ... Bishop, Dorothy V M. - : figshare, 2020 BASE Show details 17 Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren; Wierzba, Jolanta; Strom, Tim M; Parenti, Ilaria; Kaiser, Frank J; Ehmke, Nadja; Schaaf, Christian P In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019) Abstract: PurposeHaploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identified to critically incorporate into the MAGEL2-USP7-TRIM27 (MUST), such that pathogenic variants in USP7 lead to altered endosomal F-actin polymerization and dysregulated protein recycling.MethodsWe report 16 newly identified individuals with heterozygous USP7 variants, identified by genome or exome sequencing or by chromosome microarray analysis. Clinical features were evaluated by review of medical records. Additional clinical information was obtained on the seven previously reported individuals to fully elucidate the phenotypic expression associated with USP7 haploinsufficiency.ResultsThe clinical manifestations of these 23 individuals suggest a syndrome characterized by DD/ID, hypotonia, eye anomalies,feeding difficulties, GERD, behavioral anomalies, and ASD, and more specific phenotypes of speech delays including a nonverbal phenotype and abnormal brain magnetic resonance image findings including white matter changes based on neuroradiologic examination.ConclusionThe consistency of clinical features among all individuals presented regardless of de novo USP7 variant type supports haploinsufficiency as a mechanism for pathogenesis and refines the clinical impact faced by affected individuals and caregivers. Keyword: 2.1 Biological and endogenous factors; Adolescent; Autism; Autism Spectrum Disorder; Behavioral and Social Science; Brain Disorders; Child; Chromosome Deletion; Clinical Research; Clinical Sciences; Congenital Structural Anomalies; corpus callosum thinning; DNA-Binding Proteins; Genetics; Genetics & Heredity; Genome; Haploinsufficiency; Human; Humans; Infant; Intellectual and Developmental Disabilities (IDD); Intellectual Disability; Language Development Disorders; Mental Health; neurodevelopment; Neurodevelopmental Disorders; Neurosciences; Newborn; Nuclear Proteins; Pediatric; Phenotype; Preschool; Problem Behavior; Proteins; speech delay; USP7; white matter paucity; Whole Exome Sequencing URL: https://escholarship.org/uc/item/0h47s4s0 BASE Hide details 18 Giving voice to person-anchored outcomes in preschool children attending Speech Language Pathology Services ; Revolutionary Learning, Evolutionary Practice 2018 ASHA Convention Walsh, Irene. - 2019 BASE Show details 19 Screening for developmental difficulties in Australian Aboriginal children: validation of a culturally adapted tool Simpson, Samantha Kate. - 2019 BASE Show details 20 The consistency and cognitive predictors of children's oral language, reading, and math learning profiles Archibald, Lisa M.D.; Cardy, Janis Oram; Ansari, Daniel... In: Communication Sciences and Disorders Publications (2019) BASE Show details Page: 1 2 3 4

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