CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma (Q34396517)

1 August 2017

CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma (English)

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1 August 2017

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parathyroid carcinoma

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primary hyperparathyroidism

inferred from title

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7

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1 August 2017

5

Kristiina Aittomäki

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Eeva Korpi-Hyövälti

1

object named as

Eeva Korpi-Hyövälti

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Camilla Schalin-Jäntti

8

object named as

Camilla Schalin-Jäntti

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1 August 2017

2

Treena Cranston

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1 August 2017

Eeva Ryhänen

3

1 reference

1 August 2017

Johanna Arola

4

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1 August 2017

Timo Sane

6

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1 August 2017

language of work or name

English

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publication date

13 May 2014

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The Journal of Clinical Endocrinology and Metabolism

1 August 2017

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1 August 2017

99

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1 August 2017

3044-3048

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1 August 2017

9

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Creative Commons Attribution 3.0 Unported

1 August 2017

start time

24 November 2016

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

Parafibromin as a diagnostic instrument for parathyroid carcinoma-lone ranger or part of the posse?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

Clinical review 122: Parathyroid carcinoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

Familial hyperparathyroidism without multiple endocrine neoplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4207936

Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families

27 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Frequent Large GermlineHRPT2Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Evaluation of retinoblastoma and Ki-67 immunostaining as diagnostic markers of benign and malignant parathyroid disease

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2014-1481

1 reference

1 August 2017

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1 August 2017

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