Search Results - "Bauters, Catherine"
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Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy
Published in Endocrine-related cancer (01-05-2022)“…The release of excessive amounts of catecholamine by pheochromocytoma–paragangliomas (PPGL) can lead to life-threatening catecholamine-induced cardiomyopathy…”
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Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?
Published in European journal of endocrinology (01-01-2020)“…Objective Primary hyperparathyroism (PHPT) is a disease with either sporadic or inherited presentation. Germline mutations responsible for this disease can be…”
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Paraganglioma after Maternal Transmission of a Succinate Dehydrogenase Gene Mutation
Published in The journal of clinical endocrinology and metabolism (01-05-2008)“…Context: Inactivating mutations of SDHD, which is mapped to 11q23 and encodes the cybS subunit of succinate dehydrogenase, predispose to hereditary…”
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Thymic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1: A Comparative Study on 21 Cases Among a Series of 761 MEN1 from the GTE (Groupe des Tumeurs Endocrines)
Published in World journal of surgery (01-06-2009)“…Background Thymic neuroendocrine tumors (Th-NET) present a poor prognosis for patients with multiple endocrine neoplasia type 1 (MEN1). The purpose of this…”
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Reference range of serum calcitonin levels in humans: influence of calcitonin assays, sex, age, and cigarette smoking
Published in European journal of endocrinology (01-12-2007)“…ObjectiveThe objective of this study was to re-evaluate the adult CT reference values determined by five different immunoassays and by introducing criteria for…”
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Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B
Published in Endocrine Connections (01-10-2020)“…Objective We previously described a family in which predisposition to pheochromocytoma (PCC) segregates with a germline heterozygous KIF1B nucleotide variant…”
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Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods
Published in The Journal of molecular diagnostics : JMD (01-05-2019)“…Von Hippel-Lindau disease (VHL) is a monogenic disorder characterized by the development of tumors affecting the central nervous system, kidney, pancreas, or…”
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Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: Incidence, characteristics, and outcome
Published in Surgery (01-12-2009)“…Background Operative excision of abdominal extra-adrenal paragangliomas (EAPs) does not preclude the late development of local-regional recurrence. We describe…”
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Metastatic Potential and Survival of Duodenal and Pancreatic Tumors in Multiple Endocrine Neoplasia Type 1
Published in Annals of surgery (01-12-2020)“…Objective: To assess the distant metastatic potential of duodeno-pancreatic neuroendocrine tumors (DP-NETs) in patients with MEN1, according to functional…”
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Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations
Published in Frontiers in endocrinology (Lausanne) (06-05-2021)“…Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex…”
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An analysis of the biochemical diagnosis of 66 pheochromocytomas
Published in European journal of endocrinology (01-05-2007)“…Objectives: The aims of this study were to determine the performance of each variable, to define the optimal diagnostic thresholds and to determine the…”
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Long-term results of less than total parathyroidectomy for hyperparathyroidism in multiple endocrine neoplasia type 1
Published in Surgery (01-12-2002)“…Background. Our aim was to assess long-term results after less than total parathyroidectomy for hyperparathyroidism in multiple endocrine neoplasia type 1…”
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Hypoparathyroidism and pregnancy
Published in Annales d'endocrinologie (01-06-2016)Get full text
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Long-term Follow-up of MEN1 Patients Who Do Not Have Initial Surgery for Small ≤2 cm Nonfunctioning Pancreatic Neuroendocrine Tumors, an AFCE and GTE Study
Published in Annals of surgery (01-07-2018)“…Objective: To report long-term follow-up of patients with multiple endocrine neoplasia type 1 (MEN1) and nonfunctioning pancreatic neuroendocrine tumors…”
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Long-term Follow-up of MEN1 Patients Who Do Not Have Initial Surgery for Small ≤2 cm Nonfunctioning Pancreatic Neuroendocrine Tumors, an AFCE and GTE Study: Association Francophone de Chirurgie Endocrinienne & Groupe d’Etude des Tumeurs Endocrines
Published in Annals of surgery (01-07-2018)“…OBJECTIVE:To report long-term follow-up of patients with multiple endocrine neoplasia type 1 (MEN1) and nonfunctioning pancreatic neuroendocrine tumors…”
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Metastatic Potential and Survival of Duodenal and Pancreatic Tumors in Multiple Endocrine Neoplasia Type 1: A GTE and AFCE Cohort Study (Groupe d’étude des Tumeurs Endocrines and Association Francophone de Chirurgie Endocrinienne)
Published in Annals of surgery (01-12-2020)“…OBJECTIVE:To assess the distant metastatic potential of duodeno-pancreatic neuroendocrine tumors (DP-NETs) in patients with MEN1, according to functional…”
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A Full Phenotype of Paraganglioma Linked to a Germline SDHB Mosaic Mutation
Published in The journal of clinical endocrinology and metabolism (01-08-2019)“…Abstract Context Heterozygous germline pathogenic variants found in succinate dehydrogenase (SDH) complex genes predispose to hereditary paraganglioma (PGL)…”
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Serum succinate/fumarate ratio in paraganglioma/pheochromocytoma patients attending an endocrine oncogenetic unit
Published in The journal of clinical endocrinology and metabolism (01-03-2023)“…Pheochromocytomas and paragangliomas (PPGLs) with SDHx pathogenic variants (PV) are characterized by a higher intra-tissular succinate/fumarate ratio (RS/F)…”
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Serum fatty acid profiling in patients with SDHx mutations: New advances on cellular metabolism in SDH deficiency
Published in Biochimie (01-10-2022)“…Apart from the oncometabolite succinate, little studies have appeared on extra-mitochondrial pathways in Succinate Dehydrogenase (SDH) genetic deficiency. The…”
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