Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020
Sign Up to like & getrecommendations! Published in 2021 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2021.0945
Abstract: This cohort study examines the cancer prevalence and survival outcomes among patients with neurofibromatosis type 1 vs the general population. read more here.
Keywords: general population; patients neurofibromatosis; cancer prevalence; neurofibromatosis type ... See more keywords
Characterization of health concerns in people with neurofibromatosis type 1
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DOI: 10.1002/mgg3.2077
Abstract: Neurofibromatosis 1 (NF1) is a common cancer predisposition syndrome. Affected individuals require lifelong surveillance and often suffer progressive disfigurement due to cutaneous neurofibromas. The aim of this research was to characterize health concerns and quality… read more here.
Keywords: health concerns; health; neurofibromatosis type; characterization health ... See more keywords
Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04708-1
Abstract: Purpose Neurofibromatosis type 1 (NF1) syndrome is a common rare/orphan disease that manifests itself early in the paediatric age. It imposes a considerable burden upon patients as well as on caregivers. Decisions regarding optimal care… read more here.
Keywords: rare diseases; role function; neurofibromatosis type; function challenges ... See more keywords
Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism
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DOI: 10.1007/s00381-020-04771-8
Abstract: Introduction Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant disorder characterised by café-au-lait maculae (CALM), skinfold freckling, iris Lisch nodules and benign peripheral nerve sheath tumours (neurofibromas). Mechanism The NF1 gene is a tumour… read more here.
Keywords: mosaicism; gene; neurofibromatosis type; surveillance ... See more keywords
Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding
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DOI: 10.1007/s00381-021-05077-z
Abstract: Neurofibromatosis type 1 (NF1) is a genetic autosomal dominant disease caused by mutation of the protein neurofibromin, a regulator of cell growth. The most frequent intracranial findings are unidentified bright objects (UBOs), thickening of the… read more here.
Keywords: olfactory bulbs; neurofibromatosis type; report;
Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?
Sign Up to like & getrecommendations! Published in 2022 at "Child's Nervous System"
DOI: 10.1007/s00381-021-05436-w
Abstract: Non-pathogenic mismatch repair (MMR) gene variants can be associated with decreased MMR capacity in several settings. Due to an increased mutation rate, reduced MMR capacity leads to accumulation of somatic sequence changes in tumour suppressor… read more here.
Keywords: neurofibromatosis type; non; non pathogenic; mismatch repair ... See more keywords
An update on the central nervous system manifestations of neurofibromatosis type 1
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neuropathologica"
DOI: 10.1007/s00401-019-02002-2
Abstract: 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… read more here.
Keywords: nervous system; central nervous; cns manifestations; neurofibromatosis type ... See more keywords
Halo-pelvic traction for thoracic spine dislocation in neurofibromatosis type 1: a case series
Sign Up to like & getrecommendations! Published in 2020 at "Archives of Orthopaedic and Trauma Surgery"
DOI: 10.1007/s00402-020-03634-w
Abstract: To present a case series of 6 patients with Neurofibromatosis type 1 (NF-1) who had severe kyphoscoliosis with vertebral dislocation, and were treated with halo-pelvic traction (HPT) and posterior fusion. To discuss the pathological characteristics… read more here.
Keywords: surgery; hpt; dislocation; case series ... See more keywords
Ocular surface involvement in patients with neurofibromatosis type 1 syndrome
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DOI: 10.1007/s00417-020-04717-5
Abstract: Purpose The aim of this study is to evaluate ocular surface morphological and functional changes in patients with neurofibromatosis type 1 (NF1). Methods Twenty-eight patients with NF1 and 14 healthy subjects were included in this… read more here.
Keywords: ocular surface; corneal sensitivity; surface; patients neurofibromatosis ... See more keywords
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
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DOI: 10.1007/s00439-021-02410-z
Abstract: Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple café-au-lait macules (CALM) which may either be present at birth or appear during the first year of life. Other NF1-associated features such as… read more here.
Keywords: neurofibromatosis type; nf1 young; diagnostic criteria; young children ... See more keywords
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome
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DOI: 10.1007/s10072-020-04574-4
Abstract: Moyamoya syndrome (MMS) is a rare intracranial arterial vasculopathy which can occur in neurofibromatosis type 1 (NF1) disease, representing a cause of cerebrovascular reserve (CVR) impairment, possibly leading to ischemic stroke. Here, we evaluated noninvasive… read more here.
Keywords: moyamoya syndrome; neurofibromatosis type; cerebrovascular reserve; multimodal evaluation ... See more keywords