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CYP2R1 mutations causing vitamin D-deficiency rickets.
Thacher TD, Levine MA. Thacher TD, et al. J Steroid Biochem Mol Biol. 2017 Oct;173:333-336. doi: 10.1016/j.jsbmb.2016.07.014. Epub 2016 Jul 27. J Steroid Biochem Mol Biol. 2017. PMID: 27473561 Review.
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.
Tencza AL, Ichikawa S, Dang A, Kenagy D, McCarthy E, Econs MJ, Levine MA. Tencza AL, et al. J Clin Endocrinol Metab. 2009 Nov;94(11):4433-8. doi: 10.1210/jc.2009-1535. Epub 2009 Oct 9. J Clin Endocrinol Metab. 2009. PMID: 19820004 Free PMC article.
A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.
Danzig J, Levine MA. Danzig J, et al. J Pediatr Endocrinol Metab. 2012;25(9-10):889-95. doi: 10.1515/jpem-2012-0173. J Pediatr Endocrinol Metab. 2012. PMID: 23426818 Free PMC article.
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.
Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA. Li Q, et al. J Invest Dermatol. 2014 Mar;134(3):658-665. doi: 10.1038/jid.2013.370. Epub 2013 Sep 5. J Invest Dermatol. 2014. PMID: 24008425 Free PMC article.
25-Hydroxyvitamin D Can Interfere With a Common Assay for 1,25-Dihydroxyvitamin D in Vitamin D Intoxication.
Hawkes CP, Schnellbacher S, Singh RJ, Levine MA. Hawkes CP, et al. J Clin Endocrinol Metab. 2015 Aug;100(8):2883-9. doi: 10.1210/jc.2015-2206. Epub 2015 Jun 29. J Clin Endocrinol Metab. 2015. PMID: 26120794 Free PMC article.
Response to the Letter by Pauwels, et al.
Hawkes CP, Schnellbacher S, Singh R, Levine MA. Hawkes CP, et al. J Clin Endocrinol Metab. 2015 Sep;100(9):L84-5. doi: 10.1210/jc.2015-3007. J Clin Endocrinol Metab. 2015. PMID: 26339746 No abstract available.
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.
Li D, Tian L, Hou C, Kim CE, Hakonarson H, Levine MA. Li D, et al. J Clin Endocrinol Metab. 2016 May;101(5):2196-200. doi: 10.1210/jc.2016-1211. Epub 2016 Mar 10. J Clin Endocrinol Metab. 2016. PMID: 26963954 Free PMC article.
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