Výsledky vyhledávání - "Renée J Zwanenburg"

Akademický článek

Understanding Behavior in Phelan-McDermid Syndrome

Autor: Annemiek M. Landlust, Linda Visser, Boudien C. T. Flapper, Selma A. J. Ruiter, Renée J. Zwanenburg, Conny M. A. van Ravenswaaij-Arts, Ingrid D. C. van Balkom

Publikováno v: Frontiers in Psychiatry, Vol 13 (2022)

BackgroundPhelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is a rare genetic disorder characterized by developmental delay, hypotonia and severely delayed speech. Behavioral difficulties are often reported in PMS, although knowledge of beh

Externí odkaz: https://doaj.org/article/40dd49d50c1a43dbbc21288a4adacdde

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A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome

Autor: Edwin R. van den Heuvel, Conny M. A. van Ravenswaaij-Arts, Renée J Zwanenburg

Publikováno v: Statistical Methods in Medical Research. 26(2):766-775

This paper compares the power of the parallel group design, the matched-pairs design, and several options for the stepped wedge and delayed start designs for testing a possible effect of intranasal insulin with respect to placebo on developmental gro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c733753a3e2999de53be55031944b72
https://doi.org/10.1177/0962280214558864

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Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy

Autor: Renée J Zwanenburg, Tjitske Kleefstra, Willem M.A. Verhoeven, C.M.A. van Ravenswaaij-Arts, Jos I. M. Egger

Publikováno v: Genes, Brain and Behavior. 15:395-404

Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by a variable degree of intellectual disability, impaired speech and language as well as social communicative skills and mild dysmorphic features. The SHANK3 gene is thought

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e0bd43394063de5f3287339f2b55807
https://doi.org/10.1111/gbb.12285

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Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? : a randomized, double-blind, placebo-controlled trial

Autor: Conny M. A. van Ravenswaaij-Arts, JH Dillingh, Renée J Zwanenburg, Edwin R. van den Heuvel, Gianni Bocca, Selma A J Ruiter, Boudien C.T. Flapper

Publikováno v: European Journal of Human Genetics, 24(12), 1696-1701. Nature Publishing Group
European Journal of Human Genetics

Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder with at least 60 children and 35 adults diagnosed in the Netherlands. Clinical features are moderate to severe intellectual disability and behavioural p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f486802578238af6355a670e083823f
https://research.tue.nl/nl/publications/8b41d85c-2266-4f81-93aa-8bd5678c754d

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Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome

Autor: Selma A J Ruiter, Boudien C.T. Flapper, Edwin R. van den Heuvel, Conny M. A. van Ravenswaaij-Arts, Renée J Zwanenburg

Publikováno v: Journal of Neurodevelopmental Disorders, 8:16, 1-12. Springer
Journal of neurodevelopmental disorders, 8:16. BMC
Journal of Neurodevelopmental Disorders

Background Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum. Knowledge about developmental and behavioural characteristics of this rar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf5f512f838b79b29492bebfc6db10da
https://hdl.handle.net/11370/e258a060-6778-4ef3-899f-3a7cf1a30f39

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Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families

Autor: Marjolein H. Willemsen, Nicole de Leeuw, Sheela Nampoothiri, Eelco Dulfer, Conny M.A. van Ravenswaaij-Arts, M. V. Thampi, Renée J Zwanenburg, Trijnie Dijkhuizen

Publikováno v: OBM Genetics. 2:1-1

Background: Phelan-McDermid syndrome (PMS), or 22q13.3 deletion syndrome, is a neurodevelopmental disorder with an estimated prevalence of 1 in 10,000 to 20,000 newborns. It usually occurs de novo, but an unexpectedly high recurrence risk is observed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::98c3f475071463801ba1cf398a2bee84
https://doi.org/10.21926/obm.genet.1804050

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