Carney complex (CNC)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-1-21.pdf
Reference19 articles.
1. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL: The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore). 1985, 64: 270-283.
2. Stratakis CA, Bertherat J, Carney JA: Mutation of perinatal myosin heavy chain. N Engl J Med. 2004, 351: 2556-2558. 10.1056/NEJM200412093512420.
3. Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA: Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet. 2000, 9: 3037-3046. 10.1093/hmg/9.20.3037.
4. Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT: Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci USA. 2004, 101: 14222-14227. 10.1073/pnas.0405535101.
5. Groussin L, Kirschner L, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, Zacharieva S, Pignatelli D, Carney JA, Luton JP, Bertagna X, Stratakis CA, Bertherat J: Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and Primary Pigmented Nodular Adrenocortical Disease (PPNAD) reveals novel mutations and clues for pathophysiology. Am J Hum Genet. 2002, 71: 1432-1442. 10.1086/344579.
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