Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene
NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 …

Abstract Methods: The National Neurofibromatosis Foundation convened an expert task
force to review current knowledge about cardiovascular manifestations of NF1 and to make …

This volume covers tumors of the pituary, the thyroid and parathyroid, the adrenal gland, the
endocrine pancreas, and inherited tumor syndromes. Each entity is extensively discussed …

Although molecular components of signal transduction pathways are rapidly being
identified, how elements of these pathways are positioned spatially and how signals …

Abstract THE ETIOLOGY AND pathogenesis of intracranial aneurysms are clearly
multifactorial, with genetic factors playing an increasingly recognized role. Intracranial …

More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for
mutations in the NF1 gene. For each patient, the whole coding sequence and all splice sites …

Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons,
Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1 …

Although a mutation in the NF1 gene is the only factor required to initiate the
neurocutaneous-skeletal neurofibromatosis 1 (NF1) syndrome, the pathoetiology of the …

Neurofibromatosis 1 occurs in 2 to 3 people per 10,000. The most frequent clinical features
are café-au-Iait macules, neurofibromas, intertriginous freckling, Lisch nodules, and learning …

Abstract Neurofibromatosis 1 (NF1) is an autosomal dominant neurocutaneous disorder with
an incidence of∼ 1 in 4000. Cognitive deficits and academic learning difficulties are the …