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Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. Vahe C, et al. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Orphanet J Rare Dis. 2017. PMID: 28122587 Free PMC article. Review.
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of autosomal dominant hypocalcemia disorders, sometimes with a presentation of pseudo-Bartter's syndrome. The differenti
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting o
[Hypercalciuria].
Périmenis P, Wémeau JL, Vantyghem MC. Périmenis P, et al. Ann Endocrinol (Paris). 2005 Dec;66(6):532-9. doi: 10.1016/s0003-4266(05)82114-6. Ann Endocrinol (Paris). 2005. PMID: 16357816 Review. French.
It may also be related to an increase in calcium absorption (vitamin D excess, primary hyperparathyroidism, sarcoidosis, lymphoma, estrogens, and certain genetic causes), an increase in osteoresorption (bone metastasis, myeloma, Paget, hyperthyroidism, immobilization, hypercortis …
It may also be related to an increase in calcium absorption (vitamin D excess, primary hyperparathyroidism, sarcoidosis, lymphoma, estrogens …
Mechanisms and causes of hypomagnesemia.
Agus ZS. Agus ZS. Curr Opin Nephrol Hypertens. 2016 Jul;25(4):301-7. doi: 10.1097/MNH.0000000000000238. Curr Opin Nephrol Hypertens. 2016. PMID: 27219040 Review.
[Congenital hypomagnesemia].
Montaigne D, Perimenis P, Douillard C, Wemeau JL, Vantyghem MC. Montaigne D, et al. Presse Med. 2004 Nov 6;33(19 Pt 1):1341-8. doi: 10.1016/s0755-4982(04)98921-x. Presse Med. 2004. PMID: 15615242 Review. French.
The primary deficiency of intestinal absorption of magnesium is responsible for hypomagnesemia and subsequent hypocalcemia. DEPENDING ON THE MECHANISM: Magnesium absorption defects in Henle's loop induce hypomagnesemia with hypercalciuria and nephrocalcinosis, autosomal do …
The primary deficiency of intestinal absorption of magnesium is responsible for hypomagnesemia and subsequent hypocalcemia. DEPENDING …
Rare diseases caused by abnormal calcium sensing and signalling.
Tőke J, Czirják G, Enyedi P, Tóth M. Tőke J, et al. Endocrine. 2021 Mar;71(3):611-617. doi: 10.1007/s12020-021-02620-5. Epub 2021 Feb 2. Endocrine. 2021. PMID: 33528764 Free PMC article. Review.
Activating mutations of the CaSR gene cause enhanced sensitivity to extracellular calcium concentration resulting in autosomal dominant hypocalcemia or Bartter-syndrome type V. Inactivating CaSR gene mutations lead to resistance to extracellular calcium. ...
Activating mutations of the CaSR gene cause enhanced sensitivity to extracellular calcium concentration resulting in autosomal dominant h
Bartter's and Gitelman's syndromes: from gene to clinic.
Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D. Naesens M, et al. Nephron Physiol. 2004;96(3):p65-78. doi: 10.1159/000076752. Nephron Physiol. 2004. PMID: 15056980 Review.
Bartter's and Gitelman's syndromes are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic alkalosis. Recently, investigators have been able to demonstrate mutations of six genes encoding several renal tubular transporters and ion channel
Bartter's and Gitelman's syndromes are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic alkalos
The calcium-sensing receptor and related diseases.
D'Souza-Li L. D'Souza-Li L. Arq Bras Endocrinol Metabol. 2006 Aug;50(4):628-39. doi: 10.1590/s0004-27302006000400008. Arq Bras Endocrinol Metabol. 2006. PMID: 17117288 Review.
Gain of function mutations are associated to Autossomal dominant hypocalcemia and Bartter syndrome type V, while loss of function mutations are associated to Familial hypocalciuric hypercalcemia and Neonatal severe hyperparathyroidism. ...
Gain of function mutations are associated to Autossomal dominant hypocalcemia and Bartter syndrome type V, while loss o …
Recent advances in molecular genetics of hereditary magnesium-losing disorders.
Konrad M, Weber S. Konrad M, et al. J Am Soc Nephrol. 2003 Jan;14(1):249-60. doi: 10.1097/01.asn.0000049161.60740.ce. J Am Soc Nephrol. 2003. PMID: 12506158 Review.
Besides isolated renal forms of hereditary hypomagnesemia, the following disorders will also be presented: familial hypomagnesemia with hypercalciuria and nephrocalcinosis, hypomagnesemia with secondary hypocalcemia, Ca2+/Mg2+-sensing receptor-associated disorders, and dis …
Besides isolated renal forms of hereditary hypomagnesemia, the following disorders will also be presented: familial hypomagnesemia with hype …
Genetic kidney diseases in the pediatric population of southern Israel.
Finer G, Shalev H, Landau D. Finer G, et al. Pediatr Nephrol. 2006 Jul;21(7):910-6. doi: 10.1007/s00467-006-0142-2. Epub 2006 May 30. Pediatr Nephrol. 2006. PMID: 16773401 Review.
Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal …
Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were …
Magnesium deficiency: pathophysiologic and clinical overview.
al-Ghamdi SM, Cameron EC, Sutton RA. al-Ghamdi SM, et al. Am J Kidney Dis. 1994 Nov;24(5):737-52. doi: 10.1016/s0272-6386(12)80667-6. Am J Kidney Dis. 1994. PMID: 7977315 Review.
The renal causes include Bartter's and Gitelman's syndrome, post obstructive diuresis, post acute tubular necrosis, renal transplantation, and interstitial nephropathy. ...Hypomagnesemia is known to produce a wide variety of clinical presentations, including neuromu …
The renal causes include Bartter's and Gitelman's syndrome, post obstructive diuresis, post acute tubular necrosis, renal tran …
23 results