Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Thijs van der Vaart"'
Autor:
Jadwiga Schreiber, Laura-Anne Grimbergen, Iris Overwater, Thijs van der Vaart, Jeffrey Stedehouder, Alberto J. Schuhmacher, Carmen Guerra, Steven A. Kushner, Dick Jaarsma, Ype Elgersma
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-19 (2017)
Abstract RASopathies, characterized by germline mutations in genes encoding proteins of the RAS-ERK signaling pathway, show overlapping phenotypes, which manifest themselves with a varying severity of intellectual disability. However, it is unclear t
Externí odkaz:
https://doaj.org/article/e97ef2c4374149b689e3417c7b683ad5
Autor:
Thijs van der Vaart, Karin van Garderen, Maarten Wijnenga, Erik Jan Dubbink, Pim French, Marion Smits, Clemens M F Dirven, Johan Kros, Arnaud Vincent, Martin van den Bent
Publikováno v:
Neuro-Oncology. 24:vii255-vii255
BACKGROUND Evidence suggests that smaller residual tumor volumes after initial surgery are associated with longer survival in patients with astrocytoma, IDH-mutant, grade II. For IDH-mutant glioma of higher grade but also for oligodendroglioma, IDH-m
Autor:
Henriëtte A. Moll, Thijs van der Vaart, Marie-Claire Y. de Wit, Leontine W. ten Hoopen, Floor E. Jansen, André B. Rietman, Iris E. Overwater, Dimitris Rizopoulos, Sabine E. Mous, Karen Bindels-de Heus, Ype Elgersma
Publikováno v:
Neurology, 93(2), E200-E209. Lippincott Williams & Wilkins
ObjectiveTo investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological deficits in children with tuberous sclerosis complex (TSC).MethodsIn this 12-month, randomize
Autor:
Thijs van der Vaart, Marie-Claire Y. de Wit, Mie-Jef Descheemaeker, Eric Legius, Rianne Oostenbrink, Ellen Plasschaert, Henriëtte A. Moll, Pieter F. A. de Nijs, André B. Rietman, Bethany A. Nicholson, Lianne C. Krab
Publikováno v:
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 177(3), 319-328. Wiley-Liss Inc.
To assess emotional and behavioral problems in children and adolescents with neurofibromatosis type 1,parents of 183 individuals aged 10.8 ± 3.1 years (range 6-17) completed the Child Behavior Checklist (CBCL). Also, 173 teachers completed the Teach
Autor:
Thijs, van der Vaart, André B, Rietman, Ellen, Plasschaert, Eric, Legius, Ype, Elgersma, Henriëtte A, Moll, Badies, Manai
Publikováno v:
Neurology, 86(2), 154-160. Lippincott Williams & Wilkins
Objective: To evaluate the appropriateness of cognitive and behavioral outcome measures in clinical trials in neurofibromatosis type 1 (NF1) by analyzing the degree of deficits compared to reference groups, test-retest reliability, and how scores cor
Autor:
Susan M Huson, Said Farschtschi, Juha Peltonen, Thijs van der Vaart, Vincent M. Riccardi, Emma Burkitt-Wright, Luis F. Parada, Eric Legius, Michael A. Patton, Bronwyn Kerr, David H. Gutmann, Katherine A. Rauen, D. Gareth Evans, Rosalie E. Ferner, Martin Zenker, David Viskochil, Miikka Vikkula, Nancy Ratner, C. Oliver Hanemann, Meena Upadhyaya
Publikováno v:
American Journal of Medical Genetics Part A, 167(1), 1-10. Wiley-Liss Inc.
Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mito- gen-activated protein kinase (MAPK) pathway. Their common underlying path
Autor:
Carmen Guerra, Jadwiga Schreiber, Dick Jaarsma, Thijs van der Vaart, Alberto J. Schuhmacher, Ype Elgersma, Steven A. Kushner, Jeffrey Stedehouder, Iris E. Overwater, Laura-Anne Grimbergen
Publikováno v:
Scientific Reports
Scientific Reports, 7:1256. Nature Publishing Group
Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientific Reports, Vol 7, Iss 1, Pp 1-19 (2017)
Scientific Reports, 7:1256. Nature Publishing Group
Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientific Reports, Vol 7, Iss 1, Pp 1-19 (2017)
RASopathies, characterized by germline mutations in genes encoding proteins of the RAS-ERK signaling pathway, show overlapping phenotypes, which manifest themselves with a varying severity of intellectual disability. However, it is unclear to what ex
Autor:
Michel Kalamarides, Andrea I. McClatchey, Michael Fisher, Ludwine Messiaen, Thijs van der Vaart, Jaishri O. Blakeley, D. Gareth Evans, Alison C. Lloyd, Tena Rosser, Miriam J. Smith, David H. Gutmann, Helen Morrison, Dusica Babovic-Vuksanovic, Xandra O. Breakefield, Anne C. Albers, David A. Stevenson, Vincent M. Riccardi, Courtney M. Dunn, Catherine D. Van Raamsdonk, Aaron Schindeler, Jan M. Friedman, David Parkinson, Anat Stemmer-Rachamimov, Yuan Zhu, Annette Bakker, Marco Giovannini, Brian Weiss, Brigitte C. Widemann, Nicole J. Ullrich, Scott R. Plotkin
Publikováno v:
American Journal of Medical Genetics Part A. 164:2969-2978
The 2013 Neurofibromatosis (NF) Conference took place at the Portola Hotel and Spa, Monterey, CA, from June 8-11, 2013. This international meeting is sponsored annually by the Children's Tumor Foundation (CTF), with the goal of bringing together NF r
Autor:
Henriëtte A. Moll, Yvonne Vergouwe, Ype Elgersma, Thijs van der Vaart, Marleen Renard, Marie-Claire Y. de Wit, Annick Vogels, Mie-Jef Descheemaeker, Eric Legius, André B. Rietman, Rianne Oostenbrink, Ellen Plasschaert, Coriene E. Catsman-Berrevoets
Publikováno v:
Lancet Neurology, 12(11), 1076-1083. Lancet Publishing Group
Summary Background Neurofibromatosis type 1 is a common genetic disorder characterised by neurocutaneous manifestations and cognitive and behavioural problems. Statins were shown to reduce analogous learning deficits in a mouse model of the disease,