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Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors.
Matyakhina L, Bei TA, McWhinney SR, Pasini B, Cameron S, Gunawan B, Stergiopoulos SG, Boikos S, Muchow M, Dutra A, Pak E, Campo E, Cid MC, Gomez F, Gaillard RC, Assie G, Füzesi L, Baysal BE, Eng C, Carney JA, Stratakis CA. Matyakhina L, et al. Among authors: carney ja. J Clin Endocrinol Metab. 2007 Aug;92(8):2938-43. doi: 10.1210/jc.2007-0797. Epub 2007 May 29. J Clin Endocrinol Metab. 2007. PMID: 17535989
Large deletions of the PRKAR1A gene in Carney complex.
Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA. Horvath A, et al. Among authors: carney ja. Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155. Clin Cancer Res. 2008. PMID: 18223213
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA. Bertherat J, et al. Among authors: carney ja. J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17. J Clin Endocrinol Metab. 2009. PMID: 19293268 Free PMC article.
274 results