(Q34431968)

English

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

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scholarly article

1 reference

Europe PubMed Central

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

2 August 2017

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

author name string

Cole DE

1

1 reference

Europe PubMed Central

2 August 2017

Janicic N

2

1 reference

Europe PubMed Central

2 August 2017

Salisbury SR

3

1 reference

Europe PubMed Central

2 August 2017

Hendy GN

4

1 reference

Europe PubMed Central

2 August 2017

publication date

1 August 1997

1 reference

Europe PubMed Central

2 August 2017

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

2 August 2017

71

1 reference

Europe PubMed Central

2 August 2017

2

1 reference

Europe PubMed Central

2 August 2017

202-210

1 reference

Europe PubMed Central

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.

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

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Calcium ions as extracellular messengers

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21 January 2018

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

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

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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.

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Skin-Pigment Regulation of Vitamin-D Biosynthesis in Man

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Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia.

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

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

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

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21 January 2018

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

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21 January 2018

Three inherited disorders of calcium sensing

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21 January 2018

Primary hyperparathyroidism in infancy

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21 January 2018

Hypocalcaemic stridor and infantile nutritional rickets

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Reversal of osteopenia with diet in adult coeliac disease

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21 January 2018

Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia

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Neonatal primary hyperparathyroidism masked by vitamin D deficiency

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21 January 2018

Identifiers

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

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

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