Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism (Q83082061)

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scientific article published on 01 April 2012

Language	Label	Description	Also known as
English	Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism	scientific article published on 01 April 2012

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22187299%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22187299%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

primary hyperparathyroidism

1 reference

based on heuristic

inferred from title

author name string

Lee F Starker

1

1 reference

Europe PubMed Central

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19 January 2020

Tobias Akerström

2

1 reference

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19 January 2020

William D Long

3

1 reference

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19 January 2020

Alberto Delgado-Verdugo

4

1 reference

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19 January 2020

Patricia Donovan

5

1 reference

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19 January 2020

Robert Udelsman

6

1 reference

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19 January 2020

Richard P Lifton

7

1 reference

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19 January 2020

Tobias Carling

8

1 reference

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19 January 2020

publication date

1 April 2012

1 reference

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19 January 2020

Hormones and Cancer

1 reference

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19 January 2020

3

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19 January 2020

1-2

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19 January 2020

44-51

1 reference

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19 January 2020

https://scigraph.springernature.com/pub.10.1007/s12672-011-0100-8

0 references

MEN1 gene analysis in patients with primary hyperparathyroidism: 10-year experience of a single institution for thyroid and parathyroid care in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guidelines for the management of asymptomatic primary hyperparathyroidism: summary statement from the third international workshop

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Durability of focused minimally invasive parathyroidectomy in young patients with sporadic primary hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Focused approach to parathyroidectomy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guidelines for diagnosis and therapy of MEN type 1 and type 2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MEN1 in pancreatic endocrine tumors: analysis of gene and protein status in 169 sporadic neoplasms reveals alterations in the vast majority of cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial parathyroid tumors: diagnosis and management

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population-based screening for primary hyperparathyroidism with serum calcium and parathyroid hormone values in menopausal women

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mutation of the MEN1 gene in parathyroid tumours.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular genetics of parathyroid neoplasms

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The parathyroid glands in familial hypocalciuric hypercalcemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A method and server for predicting damaging missense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple endocrine neoplasia type 1. Clinical features and screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced parathyroid vitamin D receptor messenger ribonucleic acid levels in primary and secondary hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of Smad3, a candidate tumor suppressor implicated in TGF-beta and menin pathways, in parathyroid adenomas and enteropancreatic endocrine tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperparathyroidism in hereditary syndromes: special expressions and special managements.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypocalciuric hypercalcemia: recognition among patients referred after unsuccessful parathyroid exploration

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of heterozygosity in parathyroid glands of familial hypercalcemia with hypercalciuria and point mutation in calcium receptor.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22187299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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