Judit Dénes

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CONTEXT Pheochromocytomas and paragangliomas are notable for a high frequency of inherited cases, many of which present as apparently sporadic tumors. OBJECTIVE The objective of this study was to establish a comprehensive next generation sequencing (NGS)-based strategy for the diagnosis of patients with pheochromocytoma and paraganglioma by testing(More)
CONTEXT Pituitary adenomas and pheochromocytomas/paragangliomas (pheo/PGL) can occur in the same patient or in the same family. Coexistence of the two diseases could be due to either a common pathogenic mechanism or a coincidence. OBJECTIVE The objective of the investigation was to study the possible coexistence of pituitary adenoma and pheo/PGL. DESIGN(More)
Two cases of short colon with imperforate anus are presented. Terminal colostomy is the therapy of choice in the neonatal period. As the definitive final procedure, trimming into a tubular structure and abdomino-perineal pull-through operation is suggested. A survey is given of similar cases reported in the literature.
INTRODUCTION Patients with germline AIP mutations or low AIP protein expression have large, invasive somatotroph adenomas and poor response to somatostatin analogues (SSA). METHODS To study the mechanism of low AIP protein expression 31 sporadic somatotropinomas with low (n = 13) or high (n = 18) AIP protein expression were analyzed for expression of AIP(More)
This paper discusses the fine structure of multiple haemangioendothelioma of the liver. There have been no previous reports of electron microscopic studies of this tumour, which was found to be composed of young capillaries continuous in type and varying in calibre. The capillaries were lined by actively proliferating, immature endothelial cells with(More)
The combination of pituitary adenomas (PA) and phaeochromocytomas (phaeo) or paragangliomas (PGL) is a rare event. Although these endocrine tumours may occur together by coincidence, there is mounting evidence that, in at least some cases, classical phaeo/PGL-predisposing genes may also play a role in pituitary tumorigenesis. A new condition that we termed(More)
CONTEXT Familial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease with incomplete penetrance. Clinical screening of apparently unaffected AIP mutation (AIPmut) carriers could identify previously unrecognized disease. OBJECTIVE To determine the AIP mutational status(More)