(Q37205288)

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20 January 2020

case report

0 references

title

A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene (English)

1 reference

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20 January 2020

1 reference

7

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20 January 2020

author name string

Seong Ill Woo

1

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20 January 2020

Hyunju Song

2

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20 January 2020

Kyung Eun Song

3

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20 January 2020

Dae Jung Kim

4

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20 January 2020

Kwan Woo Lee

5

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20 January 2020

Se Joong Kim

6

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20 January 2020

publication date

1 April 2006

1 reference

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20 January 2020

published in

Yonsei Medical Journal

1 reference

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20 January 2020

volume

47

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20 January 2020

issue

2

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20 January 2020

page(s)

255-258

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Creative Commons Attribution-NonCommercial 3.0 Unported

20 January 2020

copyright license

start time

1 January 2006

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Diseases associated with the extracellular calcium-sensing receptor

1 reference

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The genetic basis of renal cell carcinoma

6 September 2017

1 reference

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Naturally occurring mutations of the extracellular Ca2+-sensing receptor: implications for its structure and function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687637

Familial benign hypocalciuric hypercalcemia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687637

Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor

6 September 2017

1 reference

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Extracellular calcium-sensing receptor: structural and functional features and association with diseases

6 September 2017

1 reference

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Von Hippel-Lindau syndrome. A pleomorphic condition

6 September 2017

1 reference

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Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function

6 September 2017

1 reference

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

6 September 2017

1 reference

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The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687637

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

6 September 2017

1 reference

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Distribution of serum calcium values in patients with familial benign hypercalcemia (hypocalciuric hypercalcemia): evidence for a discrete genetic defect

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687637

Fasting calcium excretion and parathyroid hormone together distinguish familial hypocalciuric hypercalcaemia from primary hyperparathyroidism.

26 June 2018

1 reference

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Calcium regulation of parathyroid and C cell function in familial benign hypercalcemia

26 June 2018

1 reference

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The prevalence of familial hypocalciuric hypercalcemia

26 June 2018

1 reference

12 December 2020

Divalent cation metabolism. Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism

1 reference

12 December 2020

Maximal urine-concentrating ability: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism

1 reference

12 December 2020

The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds

1 reference

12 December 2020

Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families

1 reference

12 December 2020

Plasma intact parathyroid hormone (PTH) and PTH-related peptide in familial benign hypercalcemia: greater responsiveness to endogenous PTH than in primary hyperparathyroidism

1 reference

12 December 2020

10.3349/YMJ.2006.47.2.255

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16642557%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

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20 January 2020

PubMed publication ID

16642557

1 reference