Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene

[1]  I. Lubensky,et al.  Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. , 2000, The Journal of clinical endocrinology and metabolism.

[2]  M. Trouve,et al.  Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis. , 2000, Kidney international.

[3]  J. Rastad,et al.  Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. , 2000, The Journal of clinical endocrinology and metabolism.

[4]  P. Goodyer,et al.  Hypercalcemia of the newborn: etiology, evaluation, and management , 1999, Pediatric Nephrology.

[5]  R. Thakker,et al.  Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. , 1999, American journal of human genetics.

[6]  E. Brown,et al.  The extracellular calcium-sensing receptor: its role in health and disease. , 1998, Annual review of medicine.

[7]  G. Hendy,et al.  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. , 1997, American journal of medical genetics.

[8]  M. Leppert,et al.  Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. , 1996, The Journal of clinical endocrinology and metabolism.

[9]  S. Pearce,et al.  Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. , 1995, The Journal of clinical investigation.

[10]  J. Seidman,et al.  Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. , 1995, American journal of human genetics.

[11]  J. Seidman,et al.  Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism , 1993, Cell.

[12]  M. Leppert,et al.  Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. , 1993, American journal of human genetics.

[13]  J. Badoual,et al.  [A rare cause of hypercalcemia: familial hypocalciuric hypercalcemia]. , 1993, Archives francaises de pediatrie.

[14]  S. Harris,et al.  Neonatal hyperparathyroidism: the natural course in the absence of surgical intervention. , 1989, Pediatrics.

[15]  J. Haddow,et al.  Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia. , 1987, Jornal de Pediatria.

[16]  R. Lasker,et al.  The Hypocalciuric or Benign Variant of Familial Hypercalcemia: Clinical and Biochemical Features in Fifteen Kindreds , 1981, Medicine.