(Q44431638)

2 December 2017

title

A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene (English)

1 reference

2 December 2017

A Family of Autosomal Dominant Hypocalcemia with an Activating Mutation of Calcium-Sensing Receptor Gene (English)

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

autosomal dominant hypocalcemia

30 December 2023

main subject

1 reference

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

30 December 2023

7

Seiji Fukumoto

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12733714

30 December 2023

author name string

Noriko Chikatsu

1

1 reference

2 December 2017

Sumiyo Watanabe

2

1 reference

2 December 2017

Yasuhiro Takeuchi

3

1 reference

2 December 2017

Yasushi Muraosa

4

1 reference

2 December 2017

Shinsuke Sasaki

5

1 reference

2 December 2017

Yuji Oka

6

1 reference

2 December 2017

Toshiro Fujita

8

1 reference

2 December 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12733714

30 December 2023

publication date

1 February 2003

1 reference

2 December 2017

1 reference

2 December 2017

volume

50

1 reference

2 December 2017

issue

1

1 reference

2 December 2017

page(s)

91-96

1 reference

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

2 December 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs

30 December 2023

2

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

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

30 December 2023

3

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

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

30 December 2023

4

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

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

30 December 2023

5

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism

30 December 2023

6

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

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

30 December 2023

7

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

Activating mutations of the calcium-sensing receptor: management of hypocalcemia

30 December 2023

8

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor

30 December 2023

9

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia

30 December 2023

11

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor

30 December 2023

12

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia

30 December 2023

13

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

Hypocalcemic heart failure

30 December 2023

14

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

30 December 2023

15

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

GATA3 haplo-insufficiency causes human HDR syndrome

30 December 2023

16

1 reference

https://api.crossref.org/works/10.1507/ENDOCRJ.50.91

30 December 2023

Identifiers

1 reference

2 December 2017

1 reference