Identification of De Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses (Q58497279)

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

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scholarly article

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23 January 2020

Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses (English)

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23 January 2020

Branca M. Cavaco

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23 January 2020

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23 January 2020

Davide Carvalho

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23 January 2020

José Manuel Lopes

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23 January 2020

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23 January 2020

Valeriano Leite

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23 January 2020

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author name string

Rita Santos

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23 January 2020

Marta Sirgado

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23 January 2020

Fernando Fonseca

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23 January 2020

Jorge Rosa Santos

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23 January 2020

Luís Sobrinho

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23 January 2020

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1 March 2011

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23 January 2020

Endocrine Pathology

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23 January 2020

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23 January 2020

44-52

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23 January 2020

1

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23 January 2020

https://scigraph.springernature.com/pub.10.1007/s12022-011-9151-1

0 references

Challenging lesions in the differential diagnosis of endocrine tumors: parathyroid carcinoma

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Parathyroid carcinoma: clinical presentation and management.

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Changing clinicopathological practice in parathyroid disease

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Parathyroid surgery in familial hyperparathyroid disorders

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Parathyroid carcinoma: etiology, diagnosis, and treatment

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Somatic and Germ-Line Mutations of theHRPT2Gene in Sporadic Parathyroid Carcinoma

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

The tumor suppressor, parafibromin, mediates histone H3 K9 methylation for cyclin D1 repression

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Defining a molecular phenotype for benign and malignant parathyroid tumors

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Two hundred eighty-six cases of parathyroid carcinoma treated in the U.S. between 1985-1995

1 reference

https://api.crossref.org/works/10.1007%2FS12022-011-9151-1

21 January 2018

Gene expression of parathyroid tumors: molecular subclassification and identification of the potential malignant phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of parafibromin expression in a subset of parathyroid adenomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent hyperparathyroidism from benign neoplastic seeding: a review with recommendations for management.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accuracy of combined protein gene product 9.5 and parafibromin markers for immunohistochemical diagnosis of parathyroid carcinoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical course of metastatic parathyroid cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Re: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parafibromin immunoreactivity: its use as an additional diagnostic marker for parathyroid tumor classification

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two hundred eighty-six cases of parathyroid carcinoma treated in the U.S. between 1985-1995: a National Cancer Data Base Report. The American College of Surgeons Commission on Cancer and the American Cancer Society

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21360064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S12022-011-9151-1

1 reference

Europe PubMed Central

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23 January 2020

1 reference

Europe PubMed Central

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23 January 2020

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