Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review (Q38231338)

31 August 2017

title

Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review (English)

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31 August 2017

Signe B Thim

1

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31 August 2017

Niels H Birkebaek

series ordinal

2

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31 August 2017

Peter H Nissen

series ordinal

3

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31 August 2017

Christian Høst

series ordinal

4

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31 August 2017

language of work or name

English

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publication date

24 August 2014

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31 August 2017

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31 August 2017

volume

103

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31 August 2017

issue

11

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31 August 2017

page(s)

1117-1125

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The role of the calcium-sensing receptor in human disease

31 August 2017

cites work

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https://api.crossref.org/works/10.1111%2FAPA.12743

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Diseases associated with the extracellular calcium-sensing receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

CASR gene activating mutations in two families with autosomal dominant hypocalcemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Phenotypic variation in a large family with autosomal dominant hypocalcaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Nomenclature for the description of human sequence variations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Association between activating mutations of calcium-sensing receptor and Bartter's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Human calcium-sensing receptor gene. Vitamin D response elements in promoters P1 and P2 confer transcriptional responsiveness to 1,25-dihydroxyvitamin D.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Effect of parathyroid hormone administration in a patient with severe hypoparathyroidism caused by gain-of-function mutation of calcium-sensing receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

Synthetic human parathyroid hormone 1-34 replacement therapy: a randomized crossover trial comparing pump versus injections in the treatment of chronic hypoparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FAPA.12743

21 January 2018

Identifiers

DOI

10.1111/APA.12743

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31 August 2017

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