𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene

✍ Scribed by Colman, Steven D.; Williams, Charles A.; Wallace, Margaret R.


Book ID
109917931
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
541 KB
Volume
11
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Germline and somatic NF1 gene mutations
✍ Meena Upadhyaya; Gill Spurlock; Bisma Monem; Nick Thomas; Reinhard E. Friedrich; πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 89 KB πŸ‘ 1 views

Neurofibromatosis type 1 (NF1), a common autosomal dominant neurogenetic disorder affecting 1 in 4000 individuals worldwide, results from functional inactivation of the 17q11.2-located NF1 gene. Plexiform neurofibroma (PNF) is a congenital benign tumour present in 30-50% of NF1 patients, which in ab

Characterization of the somatic mutation
✍ Meena Upadhyaya; Song Han; Claudia Consoli; Elisa Majounie; Martin Horan; Nick S πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 307 KB πŸ‘ 1 views

## Communicated by Haig H. Kazazian One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors

Screening 500 unselected neurofibromatos
✍ Lan Kluwe; Reiner Siebert; Stefan Gesk; Reinhard E. Friedrich; Sigrid Tinschert; πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 253 KB

## Communicated by Michael Goossens A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutations, the remaining 433 were genotyped using six intragenic and one distal microsatellit