List of works - Rita Domingues

Clinical usefulness of ⁶⁸Ga-DOTA-NOC PET/CT in staging a vagal paraganglioma associated with a novel SDHB mutation.

scientific article published on 4 January 2016

Coexistence of paraganglioma/pheochromocytoma and papillary thyroid carcinoma: a four-case series analysis.

scientific article

Comparative genomic hybridization, BRAF, RAS, RET, and oligo-array analysis in aneuploid papillary thyroid carcinomas

scientific article published on 01 October 2007

Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism

scientific article published on 01 August 2018

Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma.

scientific article

Identification of De Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses

article

Identification of a novel CTR9 germline mutation in a family with Wilms tumor.

scientific article published on 29 December 2017

Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism

article

Identification of three new variants of SDHx genes in a cohort of Portuguese patients with extra-adrenal paragangliomas.

scientific article published on 30 January 2012

MEN 2A families: from hot spots to hot regions.

scientific article published on January 2003

Medullary thyroid carcinoma preferentially secreting procalcitonin

scientific article published on 09 May 2014

Mutation analysis of the RET proto-oncogene and early thyroidectomy: results of a Portuguese cancer centre

scientific article published on 31 July 2006

Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions

article

Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia.

scientific article published on March 2015

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).

scientific article published on 27 February 2015

Searching for RET/PTC rearrangements and BRAF V599E mutation in thyroid aspirates might contribute to establish a preoperative diagnosis of papillary thyroid carcinoma.

scientific article

The minisequencing method: a simple strategy for genetic screening of MEN 2 families

scientific article

Uncommon association of cerebral meningioma, parathyroid adenoma and papillary thyroid carcinoma in a patient harbouring a rare germline variant in the CDKN1B gene.

scientific article published on 13 January 2016

List of works by Rita Domingues

Clinical usefulness of ⁶⁸Ga-DOTA-NOC PET/CT in staging a vagal paraganglioma associated with a novel SDHB mutation.

Coexistence of paraganglioma/pheochromocytoma and papillary thyroid carcinoma: a four-case series analysis.

Comparative genomic hybridization, BRAF, RAS, RET, and oligo-array analysis in aneuploid papillary thyroid carcinomas

Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism

Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma.

Identification of De Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses

Identification of a novel CTR9 germline mutation in a family with Wilms tumor.

Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism

Identification of three new variants of SDHx genes in a cohort of Portuguese patients with extra-adrenal paragangliomas.

MEN 2A families: from hot spots to hot regions.

Medullary thyroid carcinoma preferentially secreting procalcitonin

Mutation analysis of the RET proto-oncogene and early thyroidectomy: results of a Portuguese cancer centre

Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions

Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia.

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).

Searching for RET/PTC rearrangements and BRAF V599E mutation in thyroid aspirates might contribute to establish a preoperative diagnosis of papillary thyroid carcinoma.

The minisequencing method: a simple strategy for genetic screening of MEN 2 families

Uncommon association of cerebral meningioma, parathyroid adenoma and papillary thyroid carcinoma in a patient harbouring a rare germline variant in the CDKN1B gene.