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 …

Activation of the RAS/MAPK pathway is critical in melanoma. Melanoma can be grouped into
four molecular subtypes based on their main genetic driver: BRAF-mutant, NRAS-mutant …

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

Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in
Medicine returns as one of the most favored texts in this fascinating and rapidly evolving …

Abstract Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease
predisposing carriers to develop nervous system tumours. To identify the genetic defect, the …

Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder
characterized by abnormalities in multiple tissues derived from the neural crest. No reliable …

Summary Charcot-Marie-Tooth disease type 1 A (CMTi A) was localized by genetic mapping
to a 3 CM interval on human chromosome 17~. DNA markers within this interval revealed a …

Three new neurofibromatosis type 1 (NFl) mutations have been detected and characterized.
Pulsed-field gel and Southern blot analyses reveal the mutations lo be deletions of 190, 40 …

The clinical features, age at onset of symptoms and survival of 150 patients with type 2
neurofibromatosis were studied. The mean age at onset was 21.57 years (n= 110) and no …

A population-based study in south-east Wales (population 668, 100) identified 135 patients
with von Recklinghausen neurofibromatosis (prevalence 20/105). In addition to multiple cafe …