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Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA. Lam C, et al. Among authors: lodish mb. Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-140. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1. Mol Genet Metab. 2015. PMID: 25943031 Free PMC article.
Cushing's Syndrome in Pediatrics: An Update.
Lodish MB, Keil MF, Stratakis CA. Lodish MB, et al. Endocrinol Metab Clin North Am. 2018 Jun;47(2):451-462. doi: 10.1016/j.ecl.2018.02.008. Endocrinol Metab Clin North Am. 2018. PMID: 29754644 Free PMC article. Review.
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR, Nilsson O, Nella AA, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA. Schernthaner-Reiter MH, et al. Eur J Pediatr. 2016 May;175(5):727-33. doi: 10.1007/s00431-015-2684-4. Epub 2016 Jan 21. Eur J Pediatr. 2016. PMID: 26795631 Free PMC article.
Endocrine side effects of broad-acting kinase inhibitors.
Lodish MB, Stratakis CA. Lodish MB, et al. Endocr Relat Cancer. 2010 Aug 16;17(3):R233-44. doi: 10.1677/ERC-10-0082. Print 2010 Sep. Endocr Relat Cancer. 2010. PMID: 20603395 Free PMC article. Review.
138 results