Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …

There is increasing recognition that genomic medicine as part of individualized medicine has
a defined role in patient care. Rapid advances in technology and decreasing cost combine …

PURPOSE: Neurofibromatosis type I (NF-I) is an autosomal dominant disorder affecting one
in 3000 individuals. Vascular abnormalities are a well-recognized manifestation of NF-I. The …

N-linked glycosylation is the most frequent modification of secreted and membrane-bound
proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of …

Approximately 5% of patients with neurofibromatosis type 1 (NF1) have deletions of the entire
NF1 gene. The phenotype usually includes early onset, large number of neurofibromas, …

Constitutional SMARCB1 mutations at 22q11.23 have been found in ∼50% of familial and <10%
of sporadic schwannomatosis cases 1 . We sequenced highly conserved regions along …

Purpose Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct
tumor predisposition syndromes with overlapping phenotypes. We sought to update the …

Context Autosomal dominant inactivating sprouty-related EVH1 domain–containing protein
1 (SPRED1) mutations have recently been described in individuals presenting mainly with …

Objective: To longitudinally analyze changes in plexiform neurofibroma (PN) volume in relation
to age and body growth in children and young adults with neurofibromatosis type 1 and …

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000
worldwide. Identification of genotype–phenotype correlations is challenging because of …