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Head & Neck, ISSN 1043-3074, 06/2019, Volume 41, Issue 6, pp. 1565 - 1571
A total of 104 patients with HNPGL (65 sporadic/39 SDHx-mutated) were included. In comparison to SDHB/SDC/SDHx-negative cases, patients with SDHD were younger... 
vagus nerve | genetics | paragangliomas | diagnostic imaging | Care and treatment | Genetic aspects | PET imaging | Tumors | Paraganglioma | Head and neck | Neck | Vagus nerve | Mutation | Computed tomography
Journal Article
Journal Article
European Journal of Nuclear Medicine and Molecular Imaging, ISSN 1619-7070, 02/2018, Volume 45, Issue 2, pp. 278 - 282
Introduction18F-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between... 
Pheochromocytomas | Genetics | F-FDOPA | Radionuclide imaging | Epinephrine | Dihydroxyphenylalanine | Pheochromocytoma | Secretion | Liver | Catecholamines | Multivariate analysis | Metabolism | Catecholamine | Patients | Genetic screening | Metastases | Correlation analysis | VHL protein | Dopa | Localization | Females
Journal Article
Journal Article
Journal of Pediatrics, ISSN 0022-3476, 11/2018
The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and Mc Cune Albright syndrome (FD/MAS) are not detectable in leukocytes by... 
Life Sciences | Human health and pathology | Pediatrics | Biochemistry, Molecular Biology | Genetics | Endocrinology and metabolism | Molecular biology | Human genetics
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 02/2019, Volume 205, pp. 281 - 285.e4
The postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger... 
detection | mosaic mutation | mosaicism | PEDIATRICS | PCR | GENETIC-ANALYSIS
Journal Article
Journal Article
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 04/2018, Volume 103, Issue 4, pp. 1574 - 1582
Journal Article
Head & neck, ISSN 1043-3074, 12/2018, Volume 41, Issue 6, pp. 1565 - 1571
F-FDOPA PET/CT was proved to be a highly sensitive imaging method for detecting head and neck paraganglioma (HNPGL). The primary aim of the study was to... 
Life Sciences | Human health and pathology | Subcellular Processes | Cellular Biology | Cancer | Tissues and Organs
Journal Article
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING, ISSN 1619-7070, 02/2018, Volume 45, Issue 2, pp. 278 - 282
Introduction F-18-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between... 
Pheochromocytomas | F-18-FDOPA | Genetics | PARAGANGLIOMAS | DIFFERENT HEREDITARY FORMS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Radionuclide imaging
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 03/2019, Volume 104, Issue 3, pp. 753 - 764
Context: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of... 
DIAGNOSIS | HYPERPARATHYROIDISM | JUND | PREDISPOSITION | GUIDELINES | ENDOCRINOLOGY & METABOLISM | GERMLINE MUTATIONS | SEQUENCE VARIANTS | ENDOCRINE NEOPLASIA TYPE-1 | IDENTIFICATION | ASSOCIATION
Journal Article
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 03/2019, Volume 104, Issue 3, pp. 753 - 764
Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of... 
Life Sciences | Human health and pathology | Genetics | Endocrinology and metabolism | Human genetics
Journal Article
JOURNAL OF CLINICAL MEDICINE, ISSN 2077-0383, 06/2018, Volume 7, Issue 6, p. 116
We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single... 
MEDICINE, GENERAL & INTERNAL | hemangioblastoma | PHEOCHROMOCYTOMA | hypertension | von Hippel-Lindau disease | paraganglioma | Life Sciences | Genetics | Human genetics
Journal Article
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, ISSN 0021-972X, 04/2018, Volume 103, Issue 4, pp. 1574 - 1582
Context: MYC-associated factor X (MAX) has been recently described as a new susceptibility pheochromocytoma (PHEO) gene with a total of similar to 40 reported... 
LOCALIZATION | METASTATIC PHEOCHROMOCYTOMA | HEREDITARY | MYC | ENDOCRINOLOGY & METABOLISM | PARAGANGLIOMA | MUTATIONS | SUSCEPTIBILITY GENES
Journal Article
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 10/2018
ContextMultiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of... 
Life Sciences | Human health and pathology | Endocrinology and metabolism
Journal Article
Expert review of endocrinology & metabolism, 03/2019, p. 1
Prolactinomas represent the most common pituitary adenomas encountered in the clinic. While a majority of these tumors will be successfully treated by dopamine... 
Journal Article
Endocrine Pathology, ISSN 1046-3976, 12/2017, Volume 28, Issue 4, pp. 302 - 307
In recent years, familial pheochromocytoma (PHEO) with germline mutations in the MAX (MYC associated factor X) gene has been reported in a few cases. Here, we... 
Life Sciences
Journal Article
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