Associated Papers
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
Corsello G et al.
Italian Journal of Pediatrics, 2018
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
Santoro C et al.
Italian Journal of Pediatrics, 2018
Children with 5'-end NF1 gene mutations are more likely to have glioma.
Anastasaki C et al.
Neurology. Genetics, 2017
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Alkindy A et al.
Human Genomics, 2012
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Laycock-van Spyk S et al.
Human Genomics, 2011
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
Griffiths S et al.
Familial Cancer, 2007
NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
Pros E et al.
Human Mutation, 2006
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.
Upadhyaya M et al.
Human Mutation, 2004
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1.
Castle B et al.
Journal of Medical Genetics, 2003
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
Ars E et al.
Journal of Medical Genetics, 2003
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
Kluwe L et al.
Human Mutation, 2002
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
Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.
Osborn MJ et al.
Human Genetics, 1999
Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.
Messiaen L et al.
Human Genetics, 1997
Four frameshift mutations in neurofibromatosis type 1 caused by small insertions.
Colman SD et al.
Journal of Medical Genetics, 1997
New evidence for a mutation hotspot in exon 37 of the NF1 gene.
Böddrich A et al.
Human Mutation, 1997
NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Abernathy CR et al.
Human Mutation, 1997
Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.
Upadhyaya M et al.
American Journal of Medical Genetics, 1996
Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs.
Rodenhiser D et al.
Oncogene, 1996