about
The minisequencing method: a simple strategy for genetic screening of MEN 2 familiesCoexistence of paraganglioma/pheochromocytoma and papillary thyroid carcinoma: a four-case series analysis.Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia.MEN 2A families: from hot spots to hot regions.Identification of three new variants of SDHx genes in a cohort of Portuguese patients with extra-adrenal paragangliomas.Identification of a novel CTR9 germline mutation in a family with Wilms tumor.SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).Uncommon association of cerebral meningioma, parathyroid adenoma and papillary thyroid carcinoma in a patient harbouring a rare germline variant in the CDKN1B gene.Clinical usefulness of ⁶⁸Ga-DOTA-NOC PET/CT in staging a vagal paraganglioma associated with a novel SDHB mutation.Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma.Searching for RET/PTC rearrangements and BRAF V599E mutation in thyroid aspirates might contribute to establish a preoperative diagnosis of papillary thyroid carcinoma.Identification of De Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor DiagnosesMutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletionsIdentification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidismMutation analysis of the RET proto-oncogene and early thyroidectomy: results of a Portuguese cancer centreComparative genomic hybridization, BRAF, RAS, RET, and oligo-array analysis in aneuploid papillary thyroid carcinomasMedullary thyroid carcinoma preferentially secreting procalcitoninHomozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Rita Domingues
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Rita Domingues
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Rita Domingues
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Rita Domingues
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Rita Domingues
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type
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Rita Domingues
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Rita Domingues
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Rita Domingues
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Rita Domingues
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Rita Domingues
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Rita Domingues
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Rita Domingues
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Rita Domingues
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Rita Domingues
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Rita Domingues
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P106
P21
P31
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0000-0001-7130-3795