(Q29465818)

English

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17555508%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17555508%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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

1 reference

based on heuristic

inferred from title

Gábor Czirják

2

1 reference

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31 December 2019

5

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31 December 2019

author name string

Judit Tõke

1

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31 December 2019

Attila Patócs

3

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31 December 2019

Balázs Enyedi

4

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31 December 2019

Violetta Csákváry

6

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31 December 2019

Péter Enyedi

7

1 reference

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31 December 2019

Miklós Tóth

8

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31 December 2019

publication date

7 June 2007

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31 December 2019

Clinical Endocrinology

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31 December 2019

67

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31 December 2019

385-392

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31 December 2019

3

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31 December 2019

Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs

1 reference

https://api.crossref.org/works/10.1111/J.1365-2265.2007.02896.X

21 April 2017

Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.

1 reference

https://api.crossref.org/works/10.1111/J.1365-2265.2007.02896.X

21 April 2017

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1111/J.1365-2265.2007.02896.X

21 April 2017

Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor

1 reference

https://api.crossref.org/works/10.1111/J.1365-2265.2007.02896.X

21 April 2017

Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02896.X

21 April 2017

Extracellular Ca2+-sensing receptors--an overview

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02896.X

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/10.1111%2FJ.1365-2265.2007.02896.X

21 January 2018

Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02896.X

21 January 2018

Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02896.X

21 January 2018

A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02896.X

21 January 2018

Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02896.X

21 January 2018

Calcium-sensing receptor gene polymorphism A986S does not predict serum calcium level, bone mineral density, calcaneal ultrasound indices, or fracture rate in a large cohort of elderly women.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02896.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02896.X

21 January 2018

Identifiers

10.1111/J.1365-2265.2007.02896.X

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

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31 December 2019

release_ak3zpxqwmfej3lvp3n6r6zw5bm

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https://api.fatcat.wiki/v0/release/ak3zpxqwmfej3lvp3n6r6zw5bm

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17555508%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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