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Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation.
Stratakis CA, Kirschner LS, Carney JA. Stratakis CA, et al. J Clin Endocrinol Metab. 2001 Sep;86(9):4041-6. doi: 10.1210/jcem.86.9.7903. J Clin Endocrinol Metab. 2001. PMID: 11549623 Review.
Careful clinical analysis has enabled positional cloning efforts to identify two chromosomal loci harboring potential candidate genes for Carney complex. ...This article summarizes the clinical manifestations of Carney complex from a worldwide collection of affected …
Careful clinical analysis has enabled positional cloning efforts to identify two chromosomal loci harboring potential candidate genes for …
Multiple endocrine neoplasia type 2.
Sizemore GW, Health H 3rd, Carney JA. Sizemore GW, et al. Clin Endocrinol Metab. 1980 Jul;9(2):299-315. doi: 10.1016/s0300-595x(80)80035-1. Clin Endocrinol Metab. 1980. PMID: 6994943 Review. No abstract available.
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.
Stelmachowska-Banas M, Zgliczynski W, Tutka P, Carney JA, Korbonits M. Stelmachowska-Banas M, et al. Among authors: carney ja. J Clin Endocrinol Metab. 2017 Nov 1;102(11):3924-3927. doi: 10.1210/jc.2017-01045. J Clin Endocrinol Metab. 2017. PMID: 28973408 Free PMC article.
Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.
Lodish MB, Yuan B, Levy I, Braunstein GD, Lyssikatos C, Salpea P, Szarek E, Karageorgiadis AS, Belyavskaya E, Raygada M, Faucz FR, Izzat L, Brain C, Gardner J, Quezado M, Carney JA, Lupski JR, Stratakis CA. Lodish MB, et al. Among authors: carney ja. Eur J Endocrinol. 2015 Jun;172(6):803-11. doi: 10.1530/EJE-14-1154. Eur J Endocrinol. 2015. PMID: 25924874 Free PMC article.
A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.
Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA, Stratakis CA. Anselmo J, et al. J Clin Endocrinol Metab. 2012 Feb;97(2):351-9. doi: 10.1210/jc.2011-2244. Epub 2011 Nov 23. J Clin Endocrinol Metab. 2012. PMID: 22112814 Free PMC article.
CONTEXT: Most tumors in Carney complex (CNC) are benign, including primary pigmented nodular adrenocortical disease (PPNAD), the main endocrine tumor in CNC. ...
CONTEXT: Most tumors in Carney complex (CNC) are benign, including primary pigmented nodular adrenocortical disease (PPNAD), the main …
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. 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.
BACKGROUND: The "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by inactivating mutations of the regulatory subunit type 1A of the cAMP-dependent protein kinase (PRKAR1A) gene and as yet unknown defect(s) in …
BACKGROUND: The "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by i …
Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect.
Pasini B, Matyakhina L, Bei T, Muchow M, Boikos S, Ferrando B, Carney JA, Stratakis CA. Pasini B, et al. J Clin Endocrinol Metab. 2007 Sep;92(9):3728-32. doi: 10.1210/jc.2007-0894. Epub 2007 Jun 12. J Clin Endocrinol Metab. 2007. PMID: 17566086
Hypodense nodularity on computed tomography: novel imaging and pathology of micronodular adrenocortical hyperplasia associated with myelolipomatous changes.
Courcoutsakis NA, Patronas NJ, Cassarino D, Griffin K, Keil M, Ross JL, Carney JA, Stratakis CA. Courcoutsakis NA, et al. J Clin Endocrinol Metab. 2004 Aug;89(8):3737-8. doi: 10.1210/jc.2004-0055. J Clin Endocrinol Metab. 2004. PMID: 15292298 No abstract available.
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