Neurofibromatose type 1 (NF1)

Dhaenens BAE, (2024) The PlexiQoL, a patient-reported outcome measure on quality of life in neurofibromatosis type 1-associated plexiform neurofibroma: translation, cultural adaptation and validation into the Dutch language for the Netherlands. J Patient Rep Outcomes. Pubmed

Bennebroek CA, (2023) Treatment evaluation by volumetric segmentation in pediatric optic pathway glioma: evaluation of the effect of bevacizumab on intra-tumor components. J Neurooncol. Pubmed

Taal W, (2023) Symptomatische tumoren bij neurofibromatose type 1 Symptomatic tumors in neurofibromatosis type 1: a diagnostic challenge. Ned Tijdschr Geneeskd. Pubmed

Dhaenens BAE, (2023) Health-related quality of life of children with neurofibromatosis type 1: Analysis of proxy-rated PedsQL and CHQ questionnaires. Eur J Paediatr Neurol. Pubmed

Carton C, (2023) ERN GENTURIS NF1 Tumour Management Guideline Group. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. Pubmed

Castricum J, (2023) Visual-spatial and visuomotor functioning in adults with neurofibromatosis type 1. J Intellect Disabil Res. Pubmed

Ottenhoff MJ, (2022) Cerebellum-dependent associative learning is not impaired in a mouse model of neurofibromatosis type 1. Sci Rep. Nov 9;12(1):19041. Pubmed

Douben HCW, (2022) High-yield identification of pathogenic NF1 variants in skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing. Hum Mutat. Pubmed

Castricum J, (2022) Plasticity of visual evoked potentials in patients with neurofibromatosis type 1. Clin Neurophysiol. Pubmed

Lubbers K, (2022) Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison. Front Psychiatry. Pubmed

Dhaenens BAE, (2021) Lessons learned from drug trials in neurofibromatosis: A systematic review. Eur J Med Genet. 2021 Jul 5:104281. Pubmed

Castricum J, Tulen JHM, Taal W, Rietman AB, Elgersma Y (2021). Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1. J Atten Disord. Pubmed

Dhaenens BAE, (2021). Identifying challenges in neurofibromatosis: a modified Delphi procedure. Eur J Hum Genet. 26:1–9 Pubmed

Fangusaro J, (2020) Response assessment in paediatric low-grade glioma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group. Lancet Oncol. 21(6); e305-16. Pubmed

Amirnasr A, (2020) Deregulated microRNAs in neurofibromatosis type 1 derived malignant peripheral nerve sheet tumors. Sci. Rep. 10:2927. Pubmed

Castricum J, (2020) Motor cortical excitability and plasticity in patients with neurofibromatosis type 1. Clin Neurophysiol. 131(11); 2673-81. Pubmed

Ottenhoff MJ, et al.(2020) Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1. Genet Med.1-9. Pubmed

Frebourg T, (2020) Guidelines for the Li-Fraumeni and heritable TP53 related cancer syndromes. Eur J Hum Genet. 28(10); 1379-86. Pubmed

Siebelt M, et al. (2019) Congenital Forearm Pseudarthrosis, a Systematic Review for a Treatment Algorithm on a Rare Condition. J Pediatr Orthop. 40; e367-74. Pubmed

Vos JR, (2019) Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes. Fam Cancer. 18(2); 281-4. Pubmed

Koczkowska M, (2019) Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet. Med. 21(4); 867-76. Pubmed

Rietman AB, et al. (2018) Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet. 177; 319–28. Pubmed

Rietman AB, et al. (2018) Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am J Med Genet A. 176; 1150–60. Pubmed

Eijk S, et al. (2018) Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1). J Autism Dev Disord. 48; 2278–85. Pubmed

Amirnasr A, (2017) Expression and inhibition of BRD4, EZH2 and TOP2A in neurofibromas and malignant peripheral nerve sheath tumors. PLoS One. 12(8); e0183155. Pubmed

Rietman AB, et al. (2017) Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood. Am J Med Genet A. 173; 2373–80. Pubmed

Rietman AB, et al. (2017) Motor problems in children with neurofibromatosis type 1. J Neurodev Disord. Pubmed

van der Vaart T, et al. (2016) Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1. Neurology 86;154–60. Pubmed

Omrani A, et al. (2015) HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1. Mol Psychiatry 20; 1311–21. Pubmed

Omrani A, (2015) Neurofibromin regulates HCN activity in Parvalbumin-positive interneurons. Mol Psychiatry. 20; 1263. Pubmed

Van Der Vaart, T. et al. (2013) Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial. Lancet Neurol 12, 1076–1083. Pubmed

van Minkelen, R. et al. (2013) A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. Clin Genet. Pubmed

Acosta, M.T. et al. (2012) The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research. Am J Med Genet A 158, 2225–2232. Pubmed

van der Vaart, T. et al. (2011) Motor deficits in neurofibromatosis type 1 mice: the role of the cerebellum. Genes Brain Behav 10, 404–409. Pubmed

Krab, L.C. et al. (2011) Motor learning in children with neurofibromatosis type I. Cerebellum 10, 14–21. Pubmed

Krab, L.C. et al. (2009) Health-related quality of life in children with neurofibromatosis type 1: contribution of demographic factors, disease-related factors, and behavior. J Pediatr 154, 420–5, 425.e1. Pubmed

Denayer, E. et al. (2008) Spred1 is required for synaptic plasticity and hippocampus-dependent learning. J Neurosci 28, 14443–14449. Pubmed

Cui, Y. et al. (2008) Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell 135, 549–560. Pubmed

Krab, L.C. et al. (2008) Impact of neurofibromatosis type 1 on school performance. J Child Neurol 23, 1002–1010. Pubmed

Krab, L.C. et al. (2008) Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial. JAMA 300, 287–294. Pubmed

Balgobind, B.V. et al. (2008) Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. Blood 111, 4322–4328. Pubmed

van Engelen, S.J.P.M. et al. (2008) Quantitative differentiation between healthy and disordered brain matter in patients with neurofibromatosis type I using diffusion tensor imaging. AJNR Am J Neuroradiol 29, 816–822. Pubmed

Oostenbrink, R. et al. (2007) Parental reports of health-related quality of life in young children with neurofibromatosis type 1: influence of condition specific determinants. J Pediatr 151, 182–6– 186.e1–2. Pubmed

Cnossen, M.H. et al. (1998) Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children. J Med Genet 35, 624–627. Pubmed

Cnossen, M.H. et al. (1998) A prospective 10 year follow up study of patients with neurofibromatosis type 1. Arch. Dis. Child. 78, 408–412. Pubmed

Cnossen, M.H. et al. (1997) Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1. Pediatrics 100, 667–670. Pubmed

Cnossen, M.H. et al. (1997) Diagnostic delay in neurofibromatosis type 1. Eur J Pediatr 156, 482–487. Pubmed

Cnossen, M.H. et al. (1997) Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat 9, 458–464. Pubmed