neurofibromatosis type

neurofibromatosis type 2

An autosomal dominant inherited disease with a gene locus at 22q12 characterized by bilateral acoustic neuromas, meningioma, glioma and Schwannoma. Ocular manifestations are juvenile cataract and hamartoma (benign tumour-like nodules) of the retina and retinal pigment epithelium. It is much less common than neurofibromatosis type 1 (von Recklinghausen's disease). See congenital hypertrophy of the retinal pigment epithelium.
References in periodicals archive ?
The US Food and Drug Administration (FDA) has granted orphan drug designation to United Kingdom-based AstraZeneca and Merck's selumetinib, an MEK 1/2 inhibitor, intended for the treatment of neurofibromatosis type 1, it was reported on Friday.
Neurofibromatosis type 1 (NF-1), or von Recklinghausen disease, is the most common and is a result of a genetic mutation on chromosome 17 that is involved in producing a protein called neurofibromin.
Malignant peripheral nerve sheath tumor in the anterior skull base associated with neurofibromatosis type 1.
Segmental NF is a mosaic form of neurofibromatosis type 1 (NF1) that results from a postzygotic mutation of the NF1 gene.
The researchers conducted animal studies tracking the effects of celecoxib on the growth of cancer cells from a tumour type known as neurofibromatosis type II (NF2).
Inactivation of neurofibromatosis type 1 (NF1) gene in GBMs, which occurs via two mechanisms: excessive proteasomal degradation and genetic loss results in excessive growth and tumorigenesis.
Sharon Phillips, along with her daughters Chelsea, Courtenay and Tyanna, have been diagnosed with neurofibromatosis type 1.
The two-year-old is one of just 3,000 sufferers of the condition worldwide and she was diagnosed with neurofibromatosis type 1 (NF1) at three months old, after a tumour was found in her neck.
Intravenous Vitamin C for Neurofibromatosis Type 1 and Optic Pathway Glioma
Spinal tumors in neurofibromatosis type 2 (NF-2) can be intramedullary, extramedullary, or associated with the nerve roots, and there may be multiple tumors at multiple locations in the spine.
The dad, who had a genetic condition called Neurofibromatosis type 1 (NF1) which causes benign tumours on the nerves, was referred to Russells Hall Hospital in Dudley for an ultrasound and second MRI scan in September 2011.
A 15-year-old boy with neurofibromatosis type 1 (NF1) was referred to us for central venous catheter insertion, and on ultrasound of the neck, he was found to have extensive involvement of the brachial plexus due to the nerve sheath tumour.