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Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
title
Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
main subject
endocrinology
0 references
hyperparathyroidism
1 reference
based on heuristic
inferred from title
primary hyperparathyroidism
1 reference
based on heuristic
inferred from title
author
Fadil M. Hannan
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Rajesh Thakker
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
author name string
M Andrew Nesbit
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Paul T Christie
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Carl Fratter
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Nicholas E Dudley
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Greg P Sadler
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
publication date
1 January 2008
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
published in
Nature Clinical Practice Endocrinology and Metabolism
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
volume
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
page(s)
53-58
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
cites work
Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sublocalization of the human protein C gene on chromosome 2q13-q14.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation and cancer: statistical study of retinoblastoma
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diseases associated with the extracellular calcium-sensing receptor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Limited versus radical parathyroidectomy in familial isolated primary hyperparathyroidism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNCPENDMET0718
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NCPENDMET0718
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
PubMed publication ID
18084346
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18084346
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18084346%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
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