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A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J. Groussin L, et al. Among authors: horvath a. J Clin Endocrinol Metab. 2006 May;91(5):1943-9. doi: 10.1210/jc.2005-2708. Epub 2006 Feb 7. J Clin Endocrinol Metab. 2006. PMID: 16464939 Free article.
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. Horvath A, et al. Nat Genet. 2006 Jul;38(7):794-800. doi: 10.1038/ng1809. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767104
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population.
Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA. Horvath A, et al. Cancer Res. 2006 Dec 15;66(24):11571-5. doi: 10.1158/0008-5472.CAN-06-2914. Cancer Res. 2006. PMID: 17178847
Male infertility as a component of Carney complex.
Wieacker P, Stratakis CA, Horvath A, Klose S, Nickel I, Buhtz P, Muschke P. Wieacker P, et al. Among authors: horvath a. Andrologia. 2007 Oct;39(5):196-7. doi: 10.1111/j.1439-0272.2007.00784.x. Andrologia. 2007. PMID: 17714219
1,662 results