Associated Papers
Ocular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a Non-Classified Mutational Variant of the NF-1 Gene.
Abdolrahimzadeh S et al.
Ophthalmic Genetics, 2016
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
Nemethova M et al.
Annals of Human Genetics, 2013
GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.
Violante IR et al.
Brain : a Journal of Neurology, 2013
Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.
Ribeiro MJ et al.
Investigative Ophthalmology & Visual Science, 2012
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).
Upadhyaya M et al.
Human Mutation, 2006
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R et al.
American Journal of Human Genetics, 2000
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