Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation

Inositol trisphosphate and calcium signalling

1993 • 6,546 citations

Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid

1993 • 2,625 citations

Strategies for multilocus linkage analysis in humans.

1984 • 2,600 citations

A second-generation linkage map of the human genome

1992 • 1,721 citations

Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1993 • 1,038 citations

Cloning and expression of an inwardly rectifying ATP-regulated potassium channel

1993 • 935 citations

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

1993 • 907 citations

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

1993 • 747 citations

Analysis of Human Genetic Linkage.

1987 • 709 citations

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

1991 • 690 citations

Analysis of Human Genetic Linkage

1992 • 555 citations

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

1994 • 383 citations

Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter.

1993 • 370 citations

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

1994 • 275 citations

Calcium infusion suggests a "set-point" abnormality of parathyroid gland function in familial benign hypercalcemia and more complex disturbances in primary hyperparathyroidism.

1993 • 166 citations

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

1992 • 155 citations

Secretory Dysfunction in Parathyroid Cells from a Neonate with Severe Primary Hyperparathyroidism

1986 • 71 citations

Relation between intracellular Ca2+ signals and Ca2+-activated Cl− current in Xenopus oocytes

1994 • 37 citations

Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.

1981 • 15 citations