Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism (Q24677024)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8675635%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism (English)

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16 October 2019

1 reference

1

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16 October 2019

4

Besser GM

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16 October 2019

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Whyte MP

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16 October 2019

author name string

Trump D

2

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16 October 2019

Wooding C

3

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16 October 2019

Chew SL

5

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16 October 2019

Grant DB

6

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16 October 2019

Heath DA

7

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16 October 2019

Hughes IA

8

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16 October 2019

Paterson CR

9

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16 October 2019

language of work or name

English

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publication date

1 December 1995

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Journal of Clinical Investigation

16 October 2019

published in

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16 October 2019

volume

96

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16 October 2019

page(s)

2683-2692

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16 October 2019

issue

6

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Coexpression studies with mutant muscarinic/adrenergic receptors provide evidence for intermolecular "cross-talk" between G-protein-linked receptors

16 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Cloning and functional expression of a rat kidney extracellular calcium/polyvalent cation-sensing receptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Dominant negative mutations of the scavenger receptor. Native receptor inactivation by expression of truncated variants

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

The rapid detection of unknown mutations in nucleic acids.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of mild primary hyperparathyroidism.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Functional inactivation of genes by dominant negative mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Self-limited neonatal familial hyperparathyroidism associated with hypercalciuria and renal tubular acidosis in three siblings

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185975

Neonatal primary hyperparathyroidism masked by vitamin D deficiency

28 November 2018

1 reference

12 December 2020

Neonatal primary hyperparathyroidism with autosomal dominant inheritance

1 reference

12 December 2020

Familial hypocalciuric hypercalcemia: recognition among patients referred after unsuccessful parathyroid exploration

1 reference

12 December 2020

Familial benign hypercalcaemia

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

An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds

1 reference

12 December 2020

Familial hypocalciuric hypercalcaemia: association with neonatal primary hyperparathyroidism, and possible linkage with HLA haplotype

1 reference

12 December 2020

Neonatal hyperparathyroidism

1 reference

12 December 2020

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

1 reference

12 December 2020

Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia

1 reference

12 December 2020

Studies of the parathyroid hormone gene in normal subjects, and in subjects with primary hyperparathyroidism and familial benign hypercalcaemia

1 reference

12 December 2020

HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI118335

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8675635%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

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16 October 2019

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