Zobrazeno 1 - 10 of 17 pro vyhledávání: '"van Dongen LCM"'
1
Akademický článek
Neuropsychological functioning of adults with PTEN hamartoma tumor syndrome.
Autor: Oldenboom C; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Drissen MMCM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., van Dongen LCM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Prins JB; Department of Medical Psychology, Radboud University Medical Centre, Nijmegen, The Netherlands., Egger JIM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63653. Date of Electronic Publication: 2024 May 15.
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2
Akademický článek
Measuring Adaptive Behavior in Patients with Mendelian Neurodevelopmental Disorders. Comparison of ABAS-3 and Dutch Vineland Scales.
Autor: Kummeling J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Vermeulen-Kalk K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department for Intellectual Disabilities, Karakter Child and Adolescent Psychiatry Center, Ede, The Netherlands., Souverein V; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Dongen LCM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Centers of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Oomens W; Centers of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Janzing JGE; Department of Psychiatry, Radboud University Medical Center, Nijmegen, The Netherlands., Pop-Purceleanu M; Department of Psychiatry, Radboud University Medical Center, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Centers of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Egger JIM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Centers of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Stevig Specialized and Forensic Care for People with Intellectual Disabilities, Dichterbij, Oostrum, The Netherlands.
Publikováno v: Clinical neuropsychiatry [Clin Neuropsychiatry] 2023 Oct; Vol. 20 (5), pp. 453-461.
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3
Report
Behavior and cognitive functioning in Witteveen-Kolk syndrome.
Autor: van Dongen LCM; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Wingbermühle E; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Stevig Specialized and Forensic Care for People with Intellectual Disability, Oostrum, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Bos-Roubos AG; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands., Vermeulen K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department for Intellectual Disabilities, Karakter Child and Adolescent Psychiatry, Ede, The Netherlands., Pop-Purceleanu M; Department of Psychiatry, Radboud University Medical Center, Nijmegen, The Netherlands., Kleefstra T; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Egger JIM; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Stevig Specialized and Forensic Care for People with Intellectual Disability, Oostrum, The Netherlands.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2384-2390. Date of Electronic Publication: 2020 Aug 11.
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4
Akademický článek
Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.
Autor: van Dongen LCM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands., Wingbermühle PAM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.; Stevig Specialised and Forensic Care for People with Intellectual Disability, Dichterbij, Oostrum, The Netherlands., van der Veld WM; Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, The Netherlands., Stumpel C; Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands., Egger JIM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.; Stevig Specialised and Forensic Care for People with Intellectual Disability, Dichterbij, Oostrum, The Netherlands.
Publikováno v: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2019 Jun; Vol. 63 (6), pp. 498-506. Date of Electronic Publication: 2019 Feb 06.
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5
Akademický článek
Exploring the behavioral and cognitive phenotype of KBG syndrome.
Autor: van Dongen LCM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands., Wingbermühle E; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands.; Stevig Specialized and Forensic Care for People with Intellectual Disabilities, Dichterbij, Oostrum, The Netherlands., van der Veld WM; Behavioral Science Institute, Radboud University Nijmegen, Nijmegen, The Netherlands., Vermeulen K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands.; Karakter Child and Adolescent Psychiatry, University Centre, Nijmegen, The Netherlands., Bos-Roubos AG; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands., Egger JIM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands.; Centre of Excellence for Korsakoff and Alcohol-Related Cognitive Disorders, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Stevig Specialized and Forensic Care for People with Intellectual Disabilities, Dichterbij, Oostrum, The Netherlands.
Publikováno v: Genes, brain, and behavior [Genes Brain Behav] 2019 Apr; Vol. 18 (4), pp. e12553. Date of Electronic Publication: 2019 Feb 21.
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6
Akademický článek
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study.
Autor: van Dongen LCM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands., Wingbermühle E; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands., Oomens W; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands., Bos-Roubos AG; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands., Kleefstra T; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands., Egger JIM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands.; Centre of Excellence for Korsakoff and Alcohol-Related Cognitive Disorders, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.
Publikováno v: Frontiers in behavioral neuroscience [Front Behav Neurosci] 2017 Dec 19; Vol. 11, pp. 248. Date of Electronic Publication: 2017 Dec 19 (Print Publication: 2017).
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8
Akademický článek
Speech‐language profiles in the context of cognitive and adaptive functioning in SATB2‐associated syndrome.
Autor: Snijders Blok, Lot1,2,3 (AUTHOR) lot.snijdersblok@radboudumc.nl, Goosen, Y. Max4 (AUTHOR), van Haaften, Leenke3,5 (AUTHOR), van Hulst, Karen3,5 (AUTHOR), Fisher, Simon E.2,6 (AUTHOR), Brunner, Han G.1,3,7 (AUTHOR), Egger, Jos I. M.4,8,9 (AUTHOR), Kleefstra, Tjitske1,3,4 (AUTHOR) tjitske.kleefstra@radboudumc.nl
Publikováno v: Genes, Brain & Behavior. Sep2021, Vol. 20 Issue 7, p1-13. 13p.
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9
Akademický článek
A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
Autor: Chen, Jing1,2 (AUTHOR), Xia, Zhongmin1 (AUTHOR), Zhou, Yulin1 (AUTHOR), Ma, Xiaomin3 (AUTHOR), Wang, Xudong1 (AUTHOR) wangxudong0524@163.com, Guo, Qiwei1 (AUTHOR) guoqiwei@xmu.edu.cn
Publikováno v: BMC Medical Genomics. 3/2/2021, Vol. 14 Issue 1, p1-7. 7p.
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10
Akademický článek
Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
Autor: Yoon JH; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea.; Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University of School of Medicine, Seoul, Republic of Korea., Hwang S; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Bae H; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Kim D; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Seo GH; Division of Medical genetics, 3billion Inc., Seoul, Republic of Korea., Koh JY; Inocras Inc., Daejeon, Republic of Korea., Ju YS; Inocras Inc., Daejeon, Republic of Korea., Do HS; Asan Institute for Life Sciences, Asan Medical Center, Seoul, Republic of Korea., Kim S; Asan Institute for Life Sciences, Asan Medical Center, Seoul, Republic of Korea., Kim GH; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Kim JH; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Choi JH; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea., Lee BH; Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. beomhee.lee@amc.seoul.kr.; Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea. beomhee.lee@amc.seoul.kr.
Publikováno v: Journal of human genetics [J Hum Genet] 2024 Sep; Vol. 69 (9), pp. 417-423. Date of Electronic Publication: 2024 Jun 01.
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