Results 11 to 20 of about 8,627 (128)

RET Proto-oncogene C634Y Mutation-associated Multiple Endocrine Adenomatosis Type 2A: a Case Report and Literature Review [PDF]

open access: yesZhongguo quanke yixue, 2023
Multiple endocrine adenomatosis type 2A (MEN2A) is a subtype of multiple endocrine adenomatosis type 2, which is clinically characterized by medulloid thyroid carcinoma (MTC) , pheochromocytoma (PHEO) , and hyperparathyroidism, and has been reported to ...
DENG Yuxuan, HE Li, SONG Zhiwang, JIANG Yanxia
doaj   +1 more source

Surgical treatment of a patient with multiple endocrine neoplasia type 2A

open access: yesВестник хирургии имени И.И. Грекова, 2020
The diagnosis and treatment of multiple endocrine neoplasia type 2A syndrome or Sipple’s syndrome, as well as other endocrine hereditary syndromes, presents certain difficulties for several reasons.
T. A. Britvin   +7 more
doaj   +1 more source

Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome

open access: yesClinics, 2012
OBJECTIVE: To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2.
Nikoletta Lendvai   +10 more
doaj   +1 more source

Multiple endocrine neoplasia type 2A (Sipple syndrome)

open access: yesActa Medica Leopoliensia, 2017
Aim. To improve diagnosis and differential diagnosis of diseases with hypertension, including multiple endocrine meoplasia, their timely diagnosis and appropriate treatment of patients. Material and Methods.
O.V. Safonova   +2 more
doaj   +1 more source

Bilateral pheochromocytoma with ganglioneuroma component associated with multiple neuroendocrine neoplasia type 2A: a case report

open access: yesJournal of Medical Case Reports, 2017
Background Composite pheochromocytoma/paragangliomas are very rare tumors composed of ordinary pheochromocytoma paragangliomas associated with neurogenic tumors. Several hereditary susceptibility disorders are known to be associated with pheochromocytoma/
Boubacar Efared   +6 more
doaj   +1 more source

Genotype-phenotype correlation in multiple endocrine neoplasia type 2

open access: yesClinics, 2012
Multiple endocrine neoplasia type 2 is an autosomal-dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the rearranged during transfection proto-oncogene, which encodes the receptor tyrosine kinase, on chromosome 10.
Friedhelm Raue, Karin Frank-Raue
doaj   +1 more source

A novel mutation identified in a patient with pheochromocytoma and renal cell carcinoma [PDF]

open access: yesKosin Medical Journal, 2018
Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2
Jae Wan Kwon   +5 more
doaj   +1 more source

Syncronous medullar thyroid cancer and primary hyperparathyroidism on a female within the sixth decade of life with positive family history for type 2A MEN syndrome [PDF]

open access: yesRomanian Journal of Medical Practice, 2016
Medullar thyroid cancer (MTC) may be sporadic or familial, either linked with pheocromocytoma (PHEO) and primary hyperparathyrodism (PHP), as seen in type 2A MEN (Multiple Endocrine Neoplasia) syndrome, either isolated.
Ana VALEA   +4 more
doaj   +1 more source

Mutational Spectrum of Multiple Endocrine Neoplasia Type 2 and Sporadic Medullary Thyroid Carcinoma in Taiwan

open access: yesJournal of the Formosan Medical Association, 2009
Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant cancer predisposition syndrome, and > 95% of MEN 2 patients carry rearranged during transfection (RET) protooncogene mutants.
Chin-Feng Chang   +4 more
doaj   +1 more source

From Childhood Migraine Headache to Pheochromocytoma

open access: yesCase Reports in Endocrinology, 2014
Pheochromocytoma may have multiple clinical manifestations including paroxysmal hypertension, tachycardia, sweating, nausea, and headache (Phillips et al., 2002). Migraine has some of the manifestations seen with pheochromocytoma.
Y. M. Hazimeh   +3 more
doaj   +1 more source

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