Genetics of Multiple Endocrine Neoplasia Type 1/Multiple Endocrine Neoplasia Type 2 Syndromes.
Sign Up to like & getrecommendations! Published in 2017 at "Endocrinology and metabolism clinics of North America"
DOI: 10.1016/j.ecl.2017.01.011
Abstract: Multiple endocrine neoplasia syndromes types 1 and 2 represent well-characterized yet clinically heterogeneous hereditary conditions for which diagnostic and management recommendations exist; genetic testing for these inherited endocrinopathies is included in these guidelines and is… read more here.
Keywords: endocrine neoplasia; neoplasia type; multiple endocrine; genetics ... See more keywords
Generation of non-integrated induced pluripotent stem cells from a 23-year-old male with multiple endocrine neoplasia type 1 syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Stem cell research"
DOI: 10.1016/j.scr.2016.12.002
Abstract: Urine resource cells were collected from a 23-year-old male with multiple endocrine neoplasia type 1 syndrome (MEN1) for generating iPS cells with episomal plasmids. Two stable iPSC lines with free of episomal plasmid were established.… read more here.
Keywords: neoplasia type; multiple endocrine; male multiple; endocrine neoplasia ... See more keywords
Perioperative outcomes of syndromic paraganglioma and pheochromocytoma resection in patients with von Hippel‐Lindau disease, multiple endocrine neoplasia type 2, or neurofibromatosis type 1
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DOI: 10.1016/j.surg.2017.08.002
Abstract: Background. Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel‐Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms. Methods.… read more here.
Keywords: neoplasia type; multiple endocrine; von hippel; endocrine neoplasia ... See more keywords
Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features
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DOI: 10.1080/13816810.2017.1408849
Abstract: ABSTRACT Background: To describe ocular and vascular findings in a patient with multiple endocrine neoplasia type 2B. Materials and methods: Case report of a 31-year-old male who was referred for ocular assessment following diagnosis of… read more here.
Keywords: endocrine neoplasia; neoplasia type; multiple endocrine;
Fibroblast Activation Protein Inhibitor Imaging and Therapy in a Patient With Multiple Endocrine Neoplasia Type 2A Syndrome.
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DOI: 10.1097/rlu.0000000000004051
Abstract: ABSTRACT A patient with multiple endocrine neoplasia type 2A syndrome who had exhausted several surgeries and radiotherapy was referred to nuclear medicine department for theranostic approaches. [68Ga]-DOTATATE PET/CT and [131I]I-mIBG SPECT/CT were performed, but the… read more here.
Keywords: endocrine neoplasia; multiple endocrine; patient; patient multiple ... See more keywords
Phaeochromocytoma in multiple endocrine neoplasia type 2: RET codon‐specific penetrance and changes in management during the last four decades
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DOI: 10.1111/cen.13386
Abstract: We describe phaeochromocytoma (phaeo) penetrance in multiple endocrine neoplasia type 2 (MEN2) according to RET protooncogene‐specific mutations and report changes in phaeo diagnosis and management from 1968 to 2015. read more here.
Keywords: endocrine neoplasia; neoplasia type; multiple endocrine; penetrance ... See more keywords
Update on the clinical management of multiple endocrine neoplasia type 1
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DOI: 10.1111/cen.14727
Abstract: This review provides an overview of novel insights in the clinical management of patients with Multiple Endocrine Neoplasia Type 1, focusing on the last decade since the last update of the MEN1 guidelines. With regard… read more here.
Keywords: endocrine neoplasia; clinical management; neoplasia type; multiple endocrine ... See more keywords
Intertumor heterogeneity in 60 pancreatic neuroendocrine tumors associated with multiple endocrine neoplasia type 1
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-019-1034-4
Abstract: BackgroundPatients with multiple endocrine neoplasia type 1 (MEN-1) develop multiple pancreatic neuroendocrine neoplasias (PNENs). Size at diagnosis and growth during follow-up are crucial parameters. According to the WHO 2017, grading is another important parameter. The… read more here.
Keywords: neoplasia type; multiple endocrine; pancreatic neuroendocrine; endocrine neoplasia ... See more keywords
Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors
Sign Up to like & getrecommendations! Published in 2022 at "Hereditary Cancer in Clinical Practice"
DOI: 10.1186/s13053-022-00216-2
Abstract: Background Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline variants in the MEN1 gene located on chromosome 11q13. We found a Chinese woman who had a pancreatic tumor, parathyroid… read more here.
Keywords: multiple endocrine; germline; detection; neoplasia type ... See more keywords
Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence
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DOI: 10.1186/s13633-018-0061-6
Abstract: BackgroundMultiple Endocrine Neoplasia Type 1 (MEN1) is a rare autosomal dominant disease that generally presents with primary hyperparathyroidism. However, initial presentation may vary and continued reevaluation of etiology of symptoms is required for appropriate diagnosis.Case… read more here.
Keywords: endocrine neoplasia; endocrine; neoplasia type; insulinoma ... See more keywords
Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience
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DOI: 10.1515/jpem-2019-0121
Abstract: Abstract Background To describe the complications and long-term results in patients with multiple endocrine neoplasia type 2A (MEN 2A) syndrome in whom a prophylactic thyroidectomy was performed, in relation to the recommendations of the American… read more here.
Keywords: neoplasia type; multiple endocrine; prophylactic thyroidectomy; endocrine neoplasia ... See more keywords