Erzsébet Balázs

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Von Hippel-Lindau disease is an autosomal dominantly inherited highly penetrant tumor syndrome predisposing to retinal and central nervous system hemangioblastomas, renal cell carcinoma and phaeochromocytoma among other less frequent complications. Molecular genetic testing of the VHL gene was performed in five unrelated families affetced with type I VHL(More)
OBJECTIVE The objective of this study was to find the most appropriate, accurate, and convenient muscle parameter that can be used as a substitute for volume in monitoring the effectiveness of therapy of patients with Graves' ophthalmopathy. SUBJECTS AND METHODS The four rectus muscles in 110 orbits (35 patients and 20 control subjects) were evaluated(More)
We present a case of a germinoma in the sellar region of a 10-year-old female patient who presented with a history of polydipsia, polyuria and visual disturbances. The tumor was resected and histologically analyzed. Interphase cytogenetics was performed using chromosome specific (peri)-centromeric DNA probes for all the somatic and X chromosomes on fresh(More)
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