HIV-1 infection is associated with a progressive loss of T cell functional capacity and
reduced responsiveness to antigenic stimuli. The mechanisms underlying T cell dysfunction …

Background: Schwannomatosis is a rare condition characterised by multiple schwannomas
and lack of involvement of the vestibular nerve. A recent report identified bi-allelic mutations …

Coronal shear fractures of the distal humerus are rare, complex fractures that can be
technically challenging to manage. They usually result from a low-energy fall and direct …

Aurora kinases are key regulators of chromosome segregation during mitosis. We have
previously shown by microarray analysis of primary lung carcinomas and matched normal …

Objective: To determine the specificity of the current clinical diagnostic criteria for
neurofibromatosis type 2 (NF2) relative to the requirement for unilateral vestibular …

Objectives Schwannomatosis is a dominantly inherited condition predisposing to
schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with …

Background: Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in
the frequency of mosaicism in the first affected generation. However, the implications of this …

Background Meningiomas have been reported to occur in approximately 50% of
neurofibromatosis type 2 (NF2) patients. The NF2 gene is commonly biallelically inactivated …

Mutations of the SMARCB1 gene have been implicated in several human tumour
predisposing syndromes. They have recently been identified as an underlying cause of the …

Purpose To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2).
Methods Patients fulfilling NF2 criteria, but with no known affected family member from a …