HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? (Q45833419)

16 December 2017

title

HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? (English)

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16 December 2017

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Leticia G Silveira

1

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16 December 2017

Eduardo P Dias

2

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16 December 2017

Bruna C G Marinho

3

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16 December 2017

Ricardo S Gomez

4

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16 December 2017

Luiz De Marco

5

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16 December 2017

Marta S Sarquis

6

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16 December 2017

publication date

1 November 2008

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16 December 2017

Arquivos Brasileiros de Endocrinologia e Metabologia

published in

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16 December 2017

volume

52

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16 December 2017

page(s)

1211-1220

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16 December 2017

issue

8

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16 December 2017

Update on genetic and clinical aspects of primary hyperparathyroidism

cites work

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds

21 January 2018

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Surgical management of familial hyperparathyroidism.

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

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

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

Familial hyperparathyroidism without multiple endocrine neoplasia

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

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

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

The parafibromin tumor suppressor protein is part of a human Paf1 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

Hyperparathyroid and hypoparathyroid disorders

21 January 2018

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A "defined baseline" in PTH monitoring increases surgical success in patients with multiple gland disease.

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

140 consecutive cases of minimally invasive, radio-guided parathyroidectomy: lessons learned and long-term results.

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

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

21 January 2018

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Parathyroid surgery in familial hyperparathyroid disorders

21 January 2018

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Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800003

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

21 January 2018

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10.1590/S0004-27302008000800003

21 January 2018

Identifiers

DOI

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16 December 2017

PubMed ID

19169472

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16 December 2017