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2004 | 1 |
2006 | 1 |
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Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus.
Clin Endocrinol (Oxf). 2007 Dec;67(6):822-31. doi: 10.1111/j.1365-2265.2007.02969.x. Epub 2007 Jul 25.
Clin Endocrinol (Oxf). 2007.
PMID: 17651445
Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.
Linglart A, Mahon MJ, Kerachian MA, Berlach DM, Hendy GN, Jüppner H, Bastepe M.
Linglart A, et al.
Endocrinology. 2006 May;147(5):2253-62. doi: 10.1210/en.2005-1487. Epub 2006 Feb 16.
Endocrinology. 2006.
PMID: 16484323
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A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.
Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Jüppner H, Gillis D.
Bastepe M, et al.
J Clin Endocrinol Metab. 2004 Jul;89(7):3595-600. doi: 10.1210/jc.2004-0036.
J Clin Endocrinol Metab. 2004.
PMID: 15240651
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