A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome. (Q52879694)

9 May 2018

title

A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome. (English)

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9 May 2018

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7

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Virginia Bellido

object named as

Virginia Bellido

1

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Asier Eguia

object named as

Asier Eguia

Guiomar Perez de Nanclares

5

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object named as

Gustavo Perez de Nanclares

6

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author name string

Ihintza Larrañaga

2

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9 May 2018

Maite Guimón

3

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9 May 2018

Rafael Martinez-Conde

4

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9 May 2018

Sonia Gaztambide

8

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9 May 2018

publication date

19 March 2016

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9 May 2018

published in

Endocrine Pathology

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9 May 2018

volume

27

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9 May 2018

page(s)

142-146

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9 May 2018

issue

2

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9 May 2018

https://scigraph.springernature.com/pub.10.1007/s12022-016-9427-6

exact match

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cites work

Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation

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Fibro-osseous lesions of the maxillofacial bones

21 January 2018

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A case of hyperparathyroidism-jaw tumour syndrome found in the treatment of an ossifying fibroma in the maxillary bone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12022-016-9427-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12022-016-9427-6

Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12022-016-9427-6

Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12022-016-9427-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12022-016-9427-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12022-016-9427-6

Primary hyperparathyroidism and jaw tumor syndrome: a novel mutation of the HRPT2 gene

21 January 2018

1 reference

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Recurrent hyperparathyroidism and a novel nonsense mutation in a patient with hyperparathyriodism-jaw tumor syndrome

21 January 2018

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Clinical and molecular genetics of parathyroid neoplasms

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

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

21 January 2018

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Familial hyperparathyroidism without multiple endocrine neoplasia

21 January 2018

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Hyperparathyroidism-jaw tumor syndrome: Results of operative management

21 January 2018

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Parathyroid surgery in familial hyperparathyroid disorders

21 January 2018

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21 January 2018

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Hyperparathyroidism-jaw tumour syndrome

21 January 2018

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Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome

21 January 2018

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21 January 2018

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12 December 2020

Hyperparathyroidism-jaw tumor syndrome: a case report

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12 December 2020

Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred

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12 December 2020

Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome

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12 December 2020

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred

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12 December 2020

Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas.

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12 December 2020

Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia.

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12 December 2020

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

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12 December 2020

A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome

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12 December 2020

[An uncommon cause of hypercalcemia: synchronous carcinoma of two parathyroids in the context of hyperparathyroidism-jaw tumor syndrome]

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12 December 2020

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

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12 December 2020

Hyperparathyroidism-jaw tumor syndrome

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12 December 2020

Is familial hyperparathyroidism a unique disease?

1 reference

12 December 2020

Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings

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12 December 2020

Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation

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12 December 2020

Jaw lesions in familial hyperparathyroidism

1 reference

12 December 2020

Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31

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12 December 2020

Fibroosseous tumors of the facial skeleton in association with primary hyperparathyroidism: An endocrine syndrome or coincidence?

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12 December 2020

HRPT2- (CDC73) RELATED HEREDITARY HYPERPARATHYROIDISM: A CASE SERIES FROM WESTERN INDIA

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12 December 2020

Hyperparathyroidism in hereditary syndromes: special expressions and special managements.

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12 December 2020

10.1007/S12022-016-9427-6

Identifiers

DOI

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9 May 2018

PubMed ID

26995009

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9 May 2018