Familial hypocalciuric hypercalcemia type 1 is an autosomal dominant disorder caused by loss-of-function mutations of the calcium-sensing receptor gene.
| 1. |
Meeran K et al. (1994) Neonatal primary hyperparathyroidism masked by vitamin D deficiency.
|
| 2. |
Marx SJ et al. (1982) An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds.
|
| 3. |
Marx SJ et al. (1981) The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds.
|
| 4. |
Marx SJ et al. (1980) Familial hypocalciuric hypercalcemia: recognition among patients referred after unsuccessful parathyroid exploration.
|
| 5. |
None (1980) Familial hypocalciuric hypercalcemia.
|
| 6. |
Ho C et al. (1995) A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
|
| 7. |
Aida K et al. (1995) Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.
|
| 8. |
Chou YH et al. (1995) Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.
|
| 9. |
Finegold DN et al. (1994) Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13.
|
| 10. |
Pollak MR et al. (1994) Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.
|
| 11. |
Pollak MR et al. (1993) Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
|
| 12. |
Chikatsu N et al. (1999) An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.
|
| 13. |
Pollak MR et al. (1994) Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.
|
| 14. |
Brown EM et al. (1993) Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid.
|
| 15. |
None (1993) Mutations in G protein-linked receptors: novel insights on disease.
|
| 16. |
Heath H et al. (1993) Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity.
|
| 18. |
Li Y et al. (1996) Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism.
|
| 19. |
Pearce SH et al. (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
|
| 20. |
Marx SJ et al. (1977) Family studies in patients with primary parathyroid hyperplasia.
|
| 23. |
Marx SJ et al. (1978) Divalent cation metabolism. Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism.
|
| 24. |
Heath H et al. (1992) Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families.
|
| 25. |
Kifor O et al. (2003) A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor.
|
| 26. |
Chou YH et al. (1992) The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.
|
| 27. |
HILLMAN DA et al. (1964) NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM.
|
| 28. |
Pallais JC et al. (2004) Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor.
|
| 29. |
Rickels MR et al. (2004) Hypocalciuric hypercalcemia and autoantibodies against the calcium-sensing receptor.
|
| 30. |
Miyashiro K et al. (2004) Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.
|
| 32. |
PRATT EL et al. (1947) Hypercalcemia and idiopathic hyperplasia of the parathyroid glands in an infant.
|
| 33. |
Lyons J et al. (1990) Two G protein oncogenes in human endocrine tumors.
|
| 34. |
Marx SJ et al. (1985) Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes.
|
| 35. |
Law WM et al. (1985) Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families.
|
| 36. |
Foley TP et al. (1972) Familial benign hypercalcemia.
|
| 37. |
Goldbloom RB et al. (1972) Hereditary parathyroid hyperplasia: a surgical emergency of early infancy.
|
| 38. |
Dezateux CA et al. (1984) Neonatal hyperparathyroidism.
|
| 39. |
Davies M et al. (1984) Familial hypocalciuric hypercalcaemia: evidence for continued enhanced renal tubular reabsorption of calcium following total parathyroidectomy.
|
| 40. |
None (1984) Familial benign hypercalcemia: nature's solution to neonatal hyperparathyroidism?
|
| 41. |
Steinmann B et al. (1984) Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia.
|
| 42. |
Menko FH et al. (1984) Familial benign hypercalcaemia (FBH; McK. No. 14598, 1983): linkage studies in a large Dutch family.
|
| 43. |
Marx SJ et al. (1982) Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia.
|
| 44. |
OMIM.ORG article Omim 145980
|
| 45. |
Orphanet article Orphanet ID 93372
|