NF1


Also found in: Medical.
AcronymDefinition
NF1Neurofibromatosis Type 1 (aka Von Recklinghausen or Classic Peripheral Neurofibromatosis)
NF1Nuclear Factor 1
References in periodicals archive ?
The most common driver mutations were in NF1, seen in 14 of the 17 cases.
NF1 often follows an autosomal dominant inheritance pattern, although up to 50% of patients with NF1 arise de novo from spontaneous mutations.
Genetically engineered mouse models have demonstrated that in astrocytes, double knockout of NF1 gene can promote cells growth both in vivo and in vitro experiments, but it is not enough to induce GBMs.
While the tumours linked to NF1 are not cancerous, the condition can cause migraines, back and knee problems and pale patches called "cafe au lait spots".
Neurofibromatosis type 1 is an autosomal dominant disease, with NF1 being the most common disease that affects a wide range of physiological systems (2).
However, there is currently no cure for NF1 and Rachael says her condition is continuing to worsen as she gets older.
Aled, who hopes to raise up to PS2,000, said: "I don't think enough is being done to raise awareness of NF1.
New drugs desperately are needed to treat MPNST and provide hope to NF1 patients at highest risk for this cancer, concludes Le, who also serves as codirector of the Comprehensive Neurofibromatosis Clinic.
Recent advances in molecular genetics via gene mapping by restriction fragment length polymorphism have localized the defective NF1 gene to long arm of chromosome 17 (Chromosome band 17 q11.
The diagnosis of NF1 is made if any two of the following seven criteria are met:
It is in this context that advanced imaging tools like CT and MRI become increasingly important, as they aid in establishing the diagnosis, knowing the true extent of the tumor, identifying complications before they become clinically apparent, even in guiding the management as in this case of multifocal neurofibromas in an 8-year-old child with NF1.