Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene (Q60021403)

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29 December 2019

title

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene (English)

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29 December 2019

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primary hyperparathyroidism

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1

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29 December 2019

Rajesh Thakker

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29 December 2019

author name string

M Andrew Nesbit

2

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29 December 2019

Paul T Christie

3

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29 December 2019

Carl Fratter

4

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29 December 2019

Nicholas E Dudley

5

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29 December 2019

Greg P Sadler

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29 December 2019

publication date

1 January 2008

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Nature Clinical Practice Endocrinology and Metabolism

29 December 2019

published in

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29 December 2019

volume

4

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29 December 2019

page(s)

53-58

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29 December 2019

issue

1

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

29 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Sublocalization of the human protein C gene on chromosome 2q13-q14.

1 reference

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7 January 2021

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Diseases associated with the extracellular calcium-sensing receptor

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https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Limited versus radical parathyroidectomy in familial isolated primary hyperparathyroidism

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https://api.crossref.org/works/10.1038%2FNCPENDMET0718

7 January 2021

Identifiers

DOI

10.1038/NCPENDMET0718

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29 December 2019

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