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141 results
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Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1.
Morotti H, Mastel S, Keller K, Barnard RA, Hall T, O'Roak BJ, Fombonne E. Morotti H, et al. Dev Med Child Neurol. 2021 Feb;63(2):226-232. doi: 10.1111/dmcn.14558. Epub 2020 May 14. Dev Med Child Neurol. 2021. PMID: 32406525
INTERPRETATION: Our results do not support an association between NF1 and autism, both at the symptom and disorder levels. WHAT THIS PAPER ADDS: Diagnoses of attention-deficit/hyperactivity disorder (ADHD) were more common in children with neurofibromatosi
INTERPRETATION: Our results do not support an association between NF1 and autism, both at the symptom and disorder levels. WHA …
An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research domains.
Smith TF, Kaczorowski JA, Acosta MT. Smith TF, et al. Childs Nerv Syst. 2020 Oct;36(10):2321-2332. doi: 10.1007/s00381-020-04745-w. Epub 2020 Jul 3. Childs Nerv Syst. 2020. PMID: 32617712 Review.
PURPOSE: Neurofibromatosis type 1 (NF1) is a rare monogenic disorder associated with executive function (EF) deficits and heightened risk for attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). ...
PURPOSE: Neurofibromatosis type 1 (NF1) is a rare monogenic disorder associated with executive function (EF) deficits and heig …
Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis.
Richards C, Jones C, Groves L, Moss J, Oliver C. Richards C, et al. Lancet Psychiatry. 2015 Oct;2(10):909-16. doi: 10.1016/S2215-0366(15)00376-4. Epub 2015 Sep 1. Lancet Psychiatry. 2015. PMID: 26341300 Review.
BACKGROUND: Autism spectrum disorder (ASD) phenomenology is reported to be more common in individuals with some genetic syndromes than in the general population; however, no meta-analysis has provided prevalence data within and between syndromes. ...Quality-weighted …
BACKGROUND: Autism spectrum disorder (ASD) phenomenology is reported to be more common in individuals with some genetic syndro …
Neurodevelopmental disorders in children with neurofibromatosis type 1.
Vogel AC, Gutmann DH, Morris SM. Vogel AC, et al. Dev Med Child Neurol. 2017 Nov;59(11):1112-1116. doi: 10.1111/dmcn.13526. Epub 2017 Aug 27. Dev Med Child Neurol. 2017. PMID: 28845518 Free article. Review.
Over the past several decades, neurofibromatosis type 1 (NF1) has become increasingly recognized as a neurodevelopmental disorder conferring increased risk for several important neurodevelopmental problems. ...These include impairments in general cognitive function, …
Over the past several decades, neurofibromatosis type 1 (NF1) has become increasingly recognized as a neurodevelopmental disorder
Phelan-McDermid Syndrome.
Phelan K, Rogers RC, Boccuto L. Phelan K, et al. 2005 May 11 [updated 2018 Jun 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2005 May 11 [updated 2018 Jun 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301377 Free Books & Documents. Review.
Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior. DIAGNOSIS/TESTING: The diagnosis of Phelan-McDermid syndrome is established in a proband with …
Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder
Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes.
Payne JM, Walsh KS, Pride NA, Haebich KM, Maier A, Chisholm A, Glad DM, Casnar CL, Rouel M, Lorenzo J, Del Castillo A, North KN, Klein-Tasman B. Payne JM, et al. Dev Med Child Neurol. 2020 Jul;62(7):813-819. doi: 10.1111/dmcn.14517. Epub 2020 Mar 17. Dev Med Child Neurol. 2020. PMID: 32181506
AIM: We examined key features of two outcome measures for social dysfunction and autism spectrum disorder traits, the Social Responsiveness Scale, Second Edition (SRS-2) and the Social Skills Improvement System - Rating Scales (SSIS-RS), in children with neurofib
AIM: We examined key features of two outcome measures for social dysfunction and autism spectrum disorder traits, the Social R …
Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study.
Haebich KM, Pride NA, Walsh KS, Chisholm A, Rouel M, Maier A, Anderson V, Barton B, Silk T, Korgaonkar M, Seal M, Lami F, Lorenzo J, Williams K, Dabscheck G, Rae CD, Kean M, North KN, Payne JM. Haebich KM, et al. BMJ Open. 2019 Sep 26;9(9):e030601. doi: 10.1136/bmjopen-2019-030601. BMJ Open. 2019. PMID: 31558455 Free PMC article.
INTRODUCTION: Children with the single-gene disorder neurofibromatosis type 1 (NF1) appear to be at an increased risk for autism spectrum disorder (ASD) and exhibit a unique social-cognitive phenotype compared with children with idiopathic ASD. ...Chil …
INTRODUCTION: Children with the single-gene disorder neurofibromatosis type 1 (NF1) appear to be at an increased risk for a
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.
Fisher MJ, Belzberg AJ, de Blank P, De Raedt T, Elefteriou F, Ferner RE, Giovannini M, Harris GJ, Kalamarides M, Karajannis MA, Kim A, Lázaro C, Le LQ, Li W, Listernick R, Martin S, Morrison H, Pasmant E, Ratner N, Schorry E, Ullrich NJ, Viskochil D, Weiss B, Widemann BC, Zhu Y, Bakker A, Serra E. Fisher MJ, et al. Am J Med Genet A. 2018 May;176(5):1258-1269. doi: 10.1002/ajmg.a.38675. Am J Med Genet A. 2018. PMID: 29681099 Free PMC article.
Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwan …
Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gat …
Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis.
Chisholm AK, Anderson VA, Pride NA, Malarbi S, North KN, Payne JM. Chisholm AK, et al. Neuropsychol Rev. 2018 Sep;28(3):317-340. doi: 10.1007/s11065-018-9380-x. Epub 2018 Aug 11. Neuropsychol Rev. 2018. PMID: 30097761
In light of the proliferation of recent research into social function in neurofibromatosis type 1 (NF1), a systematic review and meta-analysis is required to synthesise data and place findings within the context of a theoretical framework. This paper reviews findings from …
In light of the proliferation of recent research into social function in neurofibromatosis type 1 (NF1), a systematic review and meta …
An update on the central nervous system manifestations of neurofibromatosis type 1.
Nix JS, Blakeley J, Rodriguez FJ. Nix JS, et al. Acta Neuropathol. 2020 Apr;139(4):625-641. doi: 10.1007/s00401-019-02002-2. Epub 2019 Apr 8. Acta Neuropathol. 2020. PMID: 30963251 Free PMC article. Review.
Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene and subsequently, abnormal function of the protein product, neurofibromin. ...A vari
Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of muta
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