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Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol. [PDF]
Saudi Med JAlfahaad HA.
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Hybrid neurofibroma/schwannoma in schwannomatosis-a diagnostically challenging benign peripheral nerve sheath tumour. [PDF]
Fam CancerTippner D +6 more
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Mapping the Somatic Mutation Landscape of Familial NF2-Related Schwannomatosis using Whole-Exome Sequencing. [PDF]
Int J Med SciLuo F +6 more
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Should Sickle Cell Disease Be Considered a Cancer Predisposition Syndrome? [PDF]
Children (Basel)Casadessus E, Pastore Y, Pincez T.
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From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal. [PDF]
Clinics (Sao Paulo)de Francisco DD +4 more
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The Neurofibromatosis Type 1 Gene
Annual Review of Neuroscience, 1993Sometimes referred to as peripheral neurofibromatosis or von Reck linghausen disease, neurofibromatosis 1 (NFl) is one of the most common medical conditions inherited in human populations. NFl , inherited as an autosomal dominant, affects approximately 1 in 3500 individuals world wide with no apparent ethnic predilection.
D, Viskochil, R, White, R, Cawthon
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Identification and characterization of the gene for neurofibromatosis type 1
Current Opinion in Neurobiology, 1991Elucidation of the partial genomic structure and DNA sequence of the gene that is altered in neurofibromatosis type 1, and the discovery of clues to its function, have opened new opportunities not only for understanding this particular disease process but also for clarifying signal pathways involved in cellular growth and differentiation.
R, White, D, Viskochil, P, O'Connell
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