Graduated in Medicine from the Federal University of Triângulo Mineiro (UFTM) (1992); Medical Residency in Endocrinology and Metabology by UFTM (1996); Title of Specialist in Endocrinology and Metabology by the Brazilian Society of Endocrinology and Metabology (SBEM) (1998); Title of Doctor in Science in the area of Endocrinology and Metabology by the Faculty of Medicine of the University of São Paulo (FMUSP) (2002); Post-doctoral title in Sciences in the area of Endocrinology and Metabology by FMUSP (2012). He works as a Clinical Research Physician at the Genetic Endocrinology Unit (UEG) of the Medical Research Laboratory (LIM-25) at FMUSP since 1997 and as a Collaborating Professor at FMUSP since 2014. He has been an Assistant Physician in the Discipline of Endocrinology at the Hospital das Clínicas da FMUSP (HCFMUSP) and the Cancer Institute of the State of São Paulo (ICESP) since 2010. He works in HCFMUSP outpatient clinics aimed at assisting patients with Multiple Endocrine Neoplasms, being responsible for the Type 1 Multiple Endocrine Neoplasia clinic (MEN1). He works in ICESP outpatient clinics aimed at endocrine support for cancer patients and in an outpatient clinic aimed at treating patients with neuroendocrine tumors, especially gastroenteropancreatic tumors. Line of research: emphasis on endocrine oncology, working mainly in clinical and genetic studies of hereditary endocrine tumors, especially in Multiple Endocrine Neoplasms type 1 and 2 (MEN1 and MEN2) and their clinical variants. (Source: Lattes Curriculum)
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The multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant genetic disorder, characterized by development of endocrine tumors mainly in pituitary and parathyroid glands and in endocrine cells of pancreas/duodenum. However, tumors occurring in other endocrine/non-endocrine tissues have been reported. As result, an increasing prevalence of cases suspected to MEN1 has been obser…
Professor Stephen J. Marx graduated in Medicine at the Johns Hopkins Medical School and specialized in Endocrinology at the Massachusetts General Hospital. He was the Chief of Mineral Metabolism Section, Metabolic Diseases Branch of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Chief of Metabolic Diseases Branch (NIDDK), Chief of the Genetics and Endocrinol…
The multiple endocrine neoplasia type 1 (MEN1) is a genetic, autossomic and dominant disease and is correlated with the development of endocrine tumors affecting pituitary gland, parathyroid, endocrine pancreas or duodenum. It's mainly caused by a germinal mutation in tumor suppressor gene MEN1 (11q13). Other genes were recently related to MEN1 (CDKN2B/p15, CDKN2C/p18 CDKN1A/p21, CDKN1B/p…
(Only some records are available in English at this moment)
Molecular screening of at-risk relatives belonging to families with documented pheochromocytoma/paraganglioma (PPGL) with germline mutation is known to be essential for early diagnosis and treatment. There are, however, 111 index cases reported with mutation in the TMEM127 gene and only 15% of them had a positive family history. Tracing relatives at risk is, still, very little evaluated i…
The multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant genetic disease caused by germline mutations in the MEN1 gene or, more rarely, by germline mutations in other genes (CDKN2B/CDKN2C/CDKN1A/CDKN1B/AIP). MEN1 is associated with high predisposition to the development of endocrine and non-endocrine tumors, mainly, involving tumors in parathyroid and pituitary glands and e…
The multiple endocrine neoplasia type 1 (MEN1) is a genetic, autossomic and dominant disease and is correlated with the development of endocrine tumors affecting pituitary gland, parathyroid, endocrine pancreas or duodenum. It's mainly caused by a germinative mutation in tumor suppressor gene MEN1 (11q13). The tumorigenesis follow the Knudson's model (1971). Genetic diagnosis of families …
Introduction: Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disease caused by germline RET mutation, which runs with medullary thyroid carcinoma (MTC), pheochromocytoma (Pheo), and hyperparathyroidism. The MTC is a malignant neoplasm, poorly responsive to chemo / radiotherapy, which develops already in the 1st decade of life. Thus, prophylactic thyroidectomy is indic…
| 8 / 5 | Completed research grants |
| 1 / 1 | Ongoing scholarships in Brazil |
| 6 / 3 | Completed scholarships in Brazil |
| 15 / 9 | All research grants and scholarships |
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