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References
These sources were used to develop the Genetics Home Reference
condition summary
on Marfan syndrome.
Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010 May;7(5):256-65. doi: 10.1038/nrcardio.2010.30. Epub 2010 Mar 30. Review.
PubMed citation
Chaffins JA. Marfan syndrome. Radiol Technol. 2007 Jan-Feb;78(3):222-36; quiz 237-9. Review.
PubMed citation
Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009 Jan;123(1):391-8. doi: 10.1542/peds.2008-0703.
PubMed citation
Keane MG, Pyeritz RE. Medical management of Marfan syndrome. Circulation. 2008 May 27;117(21):2802-13. doi: 10.1161/CIRCULATIONAHA.107.693523. Review.
PubMed citation
Kirschner R, Hubmacher D, Iyengar G, Kaur J, Fagotto-Kaufmann C, Brömme D, Bartels R, Reinhardt DP. Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. J Biol Chem. 2011 Sep 16;286(37):32810-23. doi: 10.1074/jbc.M111.221804. Epub 2011 Jul 22.
PubMed citation
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785.
PubMed citation
Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet. 2007;52(1):1-12. Epub 2006 Oct 24. Review.
PubMed citation
National Institute of Arthritis and Musculoskeletal and Skin Diseases: Marfan
Syndrome
National Marfan
Foundation
OMIM:
MARFAN
SYNDROME
Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, Wessels A, Van Eyk J, Dietz HC; National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group. Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation. 2008 Aug 12;118(7):785-91. doi: 10.1161/CIRCULATIONAHA.108.783753.
PubMed citation
Pyeritz RE, Loeys B. The 8th international research symposium on the Marfan syndrome and related conditions. Am J Med Genet A. 2012 Jan;158A(1):42-9. doi: 10.1002/ajmg.a.34386. Epub 2011 Dec 2.
PubMed citation
Pyeritz RE; American College of Medical Genetics and Genomics. Evaluation of the adolescent or adult with some features of Marfan syndrome. Genet Med. 2012 Jan;14(1):171-7. doi: 10.1038/gim.2011.48. Epub 2012 Jan 5.
PubMed citation
Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M. The molecular genetics of Marfan syndrome and related disorders. J Med Genet. 2006 Oct;43(10):769-87. Epub 2006 Mar 29. Review.
PubMed citation
Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat. 2006 Aug;27(8):770-7.
PubMed citation
Reviewed: March 2012
Published: June 17, 2013
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