(Q34431968)

English

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene

scientific article published on August 8, 1997

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Europe PubMed Central

PubMed publication ID

2 August 2017

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene (English)

1 reference

10.1002/(SICI)1096-8628(19970808)71:2<202::AID-AJMG16>3.0.CO;2-I

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19970808)71:2%3C202::AID-AJMG16%3E3.0.CO;2-I

13 September 2024

hyperparathyroidism

1 reference

based on heuristic

inferred from title

secondary hyperparathyroidism

1 reference

based on heuristic

inferred from title

familial hypocalciuric hypercalcemia

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

D. E. Cole

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9217223

13 September 2024

N. Janicic

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9217223

13 September 2024

S. R. Salisbury

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9217223

13 September 2024

G. N. Hendy

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9217223

13 September 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9217223

13 September 2024

publication date

1 August 1997

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

8 August 1997

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National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9217223

13 September 2024

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1096-8628(19970808)71:2%3C202::AID-AJMG16%3E3.0.CO;2-I

1 reference

10.1002/(SICI)1096-8628(19970808)71:2<202::AID-AJMG16>3.0.CO;2-I

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19970808)71:2%3C202::AID-AJMG16%3E3.0.CO;2-I

13 September 2024

https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1096-8628(19970808)71:2%3C202::AID-AJMG16%3E3.0.CO;2-I

1 reference

10.1002/(SICI)1096-8628(19970808)71:2<202::AID-AJMG16>3.0.CO;2-I

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19970808)71:2%3C202::AID-AJMG16%3E3.0.CO;2-I

13 September 2024

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

71

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

202-210

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial [...]

1 reference

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21 January 2018

Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

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21 January 2018

Standardized nomenclature for Alu repeats

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Calcium ions as extracellular messengers

1 reference

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21 January 2018

Primary infantile hyperparathyroidism: clinical, laboratory, and radiographic features in 21 cases

1 reference

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21 January 2018

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

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21 January 2018

Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16.

1 reference

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Skin-Pigment Regulation of Vitamin-D Biosynthesis in Man

1 reference

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21 January 2018

Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Three inherited disorders of calcium sensing

1 reference

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21 January 2018

Primary hyperparathyroidism in infancy

1 reference

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21 January 2018

Hypocalcaemic stridor and infantile nutritional rickets

1 reference

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Reversal of osteopenia with diet in adult coeliac disease

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Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia

1 reference

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Neonatal primary hyperparathyroidism masked by vitamin D deficiency

1 reference

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The hypocalcemic effect of inorganic sulfate infusions

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Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13

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13 September 2024

Journal of the Canadian Association of Radiologists

16

24

257

author name string

Grantmyre

publication date

1973

1 reference

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Management of neonatal hyperparathyroidism with parathyroidectomy and autotransplantation

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

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Neonatal primary hyperparathyroidism: total parathyroidectomy with autotransplantation of cryopreserved parathyroid tissue

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Calcium sensing comes full circle

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

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

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Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes

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Secretory dysfunction in parathyroid cells from a neonate with severe primary hyperparathyroidism

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Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia

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Familial benign hypercalcaemia: hypercalciuria and hypocalciuria in affected members of a small kindred

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Child nephrology and urology

46

12

55

author name string

Pomeranz

publication date

1992

1 reference

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The Canadian Rutherford Lecture - An evolutionary view of disease in man

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1 reference

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Identifiers

10.1002/(SICI)1096-8628(19970808)71:2<202::AID-AJMG16>3.0.CO;2-I

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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