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Results: 1 to 20 of 117

1.

Primary hyperparathyroidism in children and adolescents.

Roizen J, Levine MA.

J Chin Med Assoc. 2012 Sep;75(9):425-34. doi: 10.1016/j.jcma.2012.06.012. Epub 2012 Aug 21. Review.

PMID:
22989537
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.

Hannan FM, Nesbit MA, Christie PT, Lissens W, Van der Schueren B, Bex M, Bouillon R, Thakker RV.

Clin Endocrinol (Oxf). 2010 Dec;73(6):715-22. doi: 10.1111/j.1365-2265.2010.03870.x.

PMID:
20846291
[PubMed - indexed for MEDLINE]
3.

Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism.

Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Rejnmark L, Brixen K, Mosekilde L.

Eur J Endocrinol. 2008 Dec;159(6):719-27. doi: 10.1530/EJE-08-0440. Epub 2008 Sep 11.

PMID:
18787045
[PubMed - indexed for MEDLINE]
Free Article
4.

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.

Guarnieri V, Canaff L, Yun FH, Scillitani A, Battista C, Muscarella LA, Wong BY, Notarangelo A, D'Agruma L, Sacco M, Cole DE, Hendy GN.

J Clin Endocrinol Metab. 2010 Apr;95(4):1819-29. doi: 10.1210/jc.2008-2430. Epub 2010 Feb 17.

PMID:
20164288
[PubMed - indexed for MEDLINE]
5.

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).

Rodrigues LS, Cáu AC, Bussmann LZ, Bastida G, Brunetto OH, Corrêa PH, Martin RM.

Arq Bras Endocrinol Metabol. 2011 Feb;55(1):67-71.

PMID:
21468522
[PubMed - indexed for MEDLINE]
Free Article
6.

Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications.

Eldeiry LS, Ruan DT, Brown EM, Gaglia JL, Garber JR.

Endocr Pract. 2012 May-Jun;18(3):412-7. doi: 10.4158/EP11272.RA. Review.

PMID:
22232026
[PubMed - indexed for MEDLINE]
7.

Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods.

Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Brixen K, Mosekilde L.

Clin Endocrinol (Oxf). 2008 Nov;69(5):713-20. doi: 10.1111/j.1365-2265.2008.03259.x. Epub 2008 Apr 10.

PMID:
18410554
[PubMed - indexed for MEDLINE]
8.

Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study.

Isaksen T, Nielsen CS, Christensen SE, Nissen PH, Heickendorff L, Mosekilde L.

Calcif Tissue Int. 2011 Oct;89(4):285-94. doi: 10.1007/s00223-011-9517-x. Epub 2011 Jul 22.

PMID:
21785908
[PubMed - indexed for MEDLINE]
9.

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.

Vierimaa O, Villablanca A, Alimov A, Georgitsi M, Raitila A, Vahteristo P, Larsson C, Ruokonen A, Eloranta E, Ebeling TM, Ignatius J, Aaltonen LA, Leisti J, Salmela PI.

J Endocrinol Invest. 2009 Jun;32(6):512-8. doi: 10.3275/6107. Epub 2009 Mar 26.

PMID:
19474519
[PubMed - indexed for MEDLINE]
10.

[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].

Watanabe S, Fukumoto S.

Nihon Rinsho. 2002 Feb;60(2):325-30. Review. Japanese.

PMID:
11857921
[PubMed - indexed for MEDLINE]
11.

Sporadic and hereditary primary hyperparathyroidism.

Pepe J, Cipriani C, Pilotto R, De Lucia F, Castro C, Lenge L, Russo S, Guarnieri V, Scillitani A, Carnevale V, D'Erasmo E, Romagnoli E, Minisola S.

J Endocrinol Invest. 2011 Jul;34(7 Suppl):40-4. Review.

PMID:
21985979
[PubMed - indexed for MEDLINE]
12.

Hypercalcemia in children and adolescents.

Lietman SA, Germain-Lee EL, Levine MA.

Curr Opin Pediatr. 2010 Aug;22(4):508-15. doi: 10.1097/MOP.0b013e32833b7c23. Review.

PMID:
20601885
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Primary hyperparathyroidism in a patient with familial hypocalciuric hypercalcaemia due to a novel mutation in the calcium-sensing receptor gene.

Egan AM, Ryan J, Aziz MA, O'Dwyer TP, Byrne MM.

J Bone Miner Metab. 2013 Jul;31(4):477-80. doi: 10.1007/s00774-012-0399-4. Epub 2012 Oct 19.

PMID:
23081733
[PubMed - indexed for MEDLINE]
14.

A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation.

Yabuta T, Miyauchi A, Inoue H, Yoshida H, Hirokawa M, Amino N.

Asian J Surg. 2009 Apr;32(2):118-22. doi: 10.1016/S1015-9584(09)60022-1.

PMID:
19423460
[PubMed - indexed for MEDLINE]
15.

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE.

Hum Mutat. 2000 Oct;16(4):281-96. Review.

PMID:
11013439
[PubMed - indexed for MEDLINE]
16.

Pancreatitis in primary hyperparathyroidism-related hypercalcaemia is not associated with mutations in the CASR gene.

Felderbauer P, Karakas E, Fendrich V, Bulut K, Werner I, Dekomien G, Klein W, Bartsch D, Schmidt WE.

Exp Clin Endocrinol Diabetes. 2007 Sep;115(8):527-9.

PMID:
17853337
[PubMed - indexed for MEDLINE]
17.

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.

Cole DE, Janicic N, Salisbury SR, Hendy GN.

Am J Med Genet. 1997 Aug 8;71(2):202-10. Erratum in: Am J Med Genet 1997 Oct 17;72(2):251-2.

PMID:
9217223
[PubMed - indexed for MEDLINE]
18.

Genetic defects associated with familial and sporadic hyperparathyroidism.

Hendy GN, Cole DE.

Front Horm Res. 2013;41:149-65. doi: 10.1159/000345675. Epub 2013 Mar 19.

PMID:
23652676
[PubMed - indexed for MEDLINE]
19.

Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism.

Starker LF, Akerström T, Long WD, Delgado-Verdugo A, Donovan P, Udelsman R, Lifton RP, Carling T.

Horm Cancer. 2012 Apr;3(1-2):44-51. doi: 10.1007/s12672-011-0100-8.

PMID:
22187299
[PubMed - indexed for MEDLINE]
20.

A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia.

Falchetti A, Gozzini A, Terranegra A, Soldati L, Vezzoli G, Leoncini G, Giusti F, Franceschelli F, Masi L, Tanini A, Cavalli L, Brandi ML.

Eur J Endocrinol. 2012 May;166(5):933-40. doi: 10.1530/EJE-11-0953. Epub 2012 Feb 7.

PMID:
22315359
[PubMed - indexed for MEDLINE]
Free Article

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