ArticleHuman genetics2003
Patterns of associations of clinical features in neurofibromatosis 1 (NF1).
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 46 citations in OpenAlex.
- The role of visual electrodiagnostics in management of children with neurofibromatosis type 1.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- The effect of parental age on NF1 patients in Turkey.Journal of community genetics · 2018Article
- The use of high tumescent power assisted liposuction in the treatment of Madelung's collar.Postepy dermatologii i alergologii · 2017Article
- Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature.BMC endocrine disorders · 2015Review
- Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas?Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2011Article
- Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis.BMC cancer · 2010Article
- CD44 and p53 immunoexpression patterns in NF1 neoplasms - indicators of malignancy and infiltration.International journal of clinical and experimental pathology · 2010Article
- Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia.Proceedings of the National Academy of Sciences of the United States of America · 2010Review
- Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.Human molecular genetics · 2009Article
- Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis.Human molecular genetics · 2008Article
- Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis 1 (NF1) is a common, fully penetrant autosomal dominant disease. The clinical course is generally progressive but highly variable, and the pathogenesis is poorly understood. We studied statistical associations among 13 of the most common or important clinical features in data from four separate sets of NF1 patients: a "developmental sample" of 1,413 probands from the NNFF International Database, an independent "validation sample" of 1,384 probands from the same database, 511 affected relatives of these probands, and 441 patients from a population-based registry in northwest England. We developed logistic regressive models for each of the 13 features using the developmental sample and attempted to validate these models in the other three samples. Age and gender were included as covariates in all models. Models were successfully developed and validated for ten of the 13 features analysed. The results are consistent with grouping nine of the clinical features into three sets: (1) café-au-lait spots, intertriginous freckling and Lisch nodules; (2) cutaneous, subcutaneous and plexiform neurofibromas; (3) macrocephaly, optic glioma and other neoplasms. In addition, three-way interactions among café-au-lait spots, intertriginous freckling and subcutaneous neurofibromas indicate that the first two groups are not independent. Our studies show that some individuals with NF1 are more likely than others to develop certain clinical features of the disease. Some NF1 features appear to share pathogenic mechanisms that are not common to all features.
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