(Q29465817)

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Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population

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Europe PubMed Central

PubMed publication ID

18 April 2017

Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population (English)

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Europe PubMed Central

PubMed publication ID

18 April 2017

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calcium sensing receptor

1 reference

GOA release 2020-03-11

G protein-coupled receptor signaling pathway

1 reference

GOA release 2020-03-11

hyperparathyroidism

1 reference

based on heuristic

inferred from title

primary hyperparathyroidism

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Claudio Musetti

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25104082%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Maria Pia Leone

11

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2 June 2020

12

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2 June 2020

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Piero Stratta

1

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2 June 2020

Guido Merlotti

2

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Europe PubMed Central

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2 June 2020

Marco Quaglia

4

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2 June 2020

Alessia Pagani

5

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2 June 2020

Cristina Izzo

6

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2 June 2020

Elisabetta Radin

7

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2 June 2020

Andrea Airoldi

8

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2 June 2020

Filomena Baorda

9

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2 June 2020

Teresa Palladino

10

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2 June 2020

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publication date

7 August 2014

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Europe PubMed Central

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18 April 2017

Nephrology Dialysis Transplantation

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Europe PubMed Central

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2 June 2020

29

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2 June 2020

10

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2 June 2020

1902-1909

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Europe PubMed Central

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2 June 2020

Familial hypocalciuric hypercalcaemia: a review

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Clinical lessons from the calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

An acquired hypocalciuric hypercalcemia autoantibody induces allosteric transition among active human Ca-sensing receptor conformations.

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Association between calcium-sensing receptor gene polymorphisms and recurrent calcium kidney stone disease: a comprehensive gene analysis.

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Serum calcium, urine calcium and polymorphisms of the calcium sensing receptor gene.

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Calcium-sensing receptor attenuates AVP-induced aquaporin-2 expression via a calmodulin-dependent mechanism

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU065

21 January 2018

Identifiers

10.1093/NDT/GFU065

2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25104082%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25104082%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

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