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4. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libè R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA. Nat Genet; 2006 Jul; 38(7):794-800. PubMed ID: 16767104 [Abstract] [Full Text] [Related]
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9. [A girl with Cushing's syndrome due to primary pigmented nodular adrenocortical disease]. Bocca G, van Mil EG, Voorhoeve PG, Wijnaendts LC, Delemarre-van de Waal HA. Ned Tijdschr Geneeskd; 2006 Oct 28; 150(43):2390-3. PubMed ID: 17100132 [Abstract] [Full Text] [Related]
11. Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? Gunther DF, Bourdeau I, Matyakhina L, Cassarino D, Kleiner DE, Griffin K, Courkoutsakis N, Abu-Asab M, Tsokos M, Keil M, Carney JA, Stratakis CA. J Clin Endocrinol Metab; 2004 Jul 28; 89(7):3173-82. PubMed ID: 15240590 [Abstract] [Full Text] [Related]
12. Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes. Bimpaki EI, Nesterova M, Stratakis CA. Eur J Endocrinol; 2009 Jul 28; 161(1):153-61. PubMed ID: 19429701 [Abstract] [Full Text] [Related]
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20. Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors. Vezzosi D, Libé R, Baudry C, Rizk-Rabin M, Horvath A, Levy I, René-Corail F, Ragazzon B, Stratakis CA, Vandecasteele G, Bertherat J. J Clin Endocrinol Metab; 2012 Nov 24; 97(11):E2063-9. PubMed ID: 22996146 [Abstract] [Full Text] [Related] Page: [Next] [New Search]