(Q34061518)

30 July 2017

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title

Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium (English)

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familial hypocalciuric hypercalcemia

30 July 2017

main subject

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Brown EM

1

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30 July 2017

publication date

1 September 2000

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Endocrinology and Metabolism Clinics of North America

30 July 2017

published in

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30 July 2017

volume

29

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30 July 2017

issue

3

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30 July 2017

page(s)

503-522

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Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene

30 July 2017

cites work

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7 January 2021

Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism.

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7 January 2021

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

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7 January 2021

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 [...]

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7 January 2021

Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor

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7 January 2021

Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of CaR-transfected HEK293 cells.

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Extracellular Ca2+ sensing, regulation of parathyroid cell function, and role of Ca2+ and other ions as extracellular (first) messengers

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7 January 2021

Physiology and pathophysiology of the extracellular calcium-sensing receptor

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

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G-protein-coupled, extracellular Ca(2+)-sensing receptor: a versatile regulator of diverse cellular functions

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7 January 2021

Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor

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7 January 2021

No evidence for mutations in the calcium-sensing receptor gene in sporadic parathyroid adenomas.

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

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7 January 2021

Familial hypocalciuric hypercalcaemia: evidence for continued enhanced renal tubular reabsorption of calcium following total parathyroidectomy

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7 January 2021

Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion

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7 January 2021

Quantitative analysis of the calcium-sensing receptor messenger RNA in parathyroid adenomas.

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7 January 2021

Calcitonin-secreting cells of the thyroid express an extracellular calcium receptor gene

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7 January 2021

Depressed expression of calcium receptor in parathyroid gland tissue of patients with hyperparathyroidism.

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Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells

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7 January 2021

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

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7 January 2021

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Cation sensing receptors in bone: a novel paradigm for regulating bone remodeling?

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7 January 2021

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

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7 January 2021

Apical extracellular calcium/polyvalent cation-sensing receptor regulates vasopressin-elicited water permeability in rat kidney inner medullary collecting duct

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7 January 2021

A 10-year prospective study of primary hyperparathyroidism with or without parathyroid surgery

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7 January 2021

Mutations in G proteins and G protein-coupled receptors in endocrine disease

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7 January 2021

The Renal Diluting and Concentrating Mechanism in Hypercalcemia

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7 January 2021

MONOGENIC DIABETES MELLITUS IN YOUTH

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7 January 2021

Emerging insights into the role of calcium ions in osteoclast regulation

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7 January 2021

10.1016/S0889-8529(05)70148-1

Identifiers

DOI

1 reference

30 July 2017

1 reference