Clinical trial NCT02111668 - References

Marfan Syndrome — Thoracic Aortic Dilatation Syndromes

Citation(s)

•   Ansorge WJ
  Next-generation DNA sequencing techniques. N Biotechnol. 2009 Apr;25(4):195-203. doi: 10.1016/j.nbt.2008.12.009. Epub 2009 Feb 3. Review.
•   Attias D, Stheneur C, Roy C, Collod-Béroud G, Detaint D, Faivre L, Delrue MA, Cohen L, Francannet C, Béroud C, Claustres M, Iserin F, Khau Van Kien P, Lacombe D, Le Merrer M, Lyonnet S, Odent S, Plauchu H, Rio M, Rossi A, Sidi D, Steg PG, Ravaud P, Boileau C, Jondeau G
  Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation. 2009 Dec 22;120(25):2541-9. doi: 10.1161/CIRCULATIONAHA.109.887042. Epub 2009 Dec 7.
•   Bojesen A, Juul S, Birkebaek N, Gravholt CH
  Increased mortality in Klinefelter syndrome. J Clin Endocrinol Metab. 2004 Aug;89(8):3830-4.
•   Bojesen A, Juul S, Birkebaek NH, Gravholt CH
  Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab. 2006 Apr;91(4):1254-60. Epub 2006 Jan 4.
•   Chan YC, Ting CW, Ho P, Poon JT, Cheung GC, Cheng SW
  Ten-year epidemiological review of in-hospital patients with Marfan syndrome. Ann Vasc Surg. 2008 Sep;22(5):608-12. doi: 10.1016/j.avsg.2008.04.005. Epub 2008 Jun 17.
•   Chow K, Pyeritz RE, Litt HI
  Abdominal visceral findings in patients with Marfan syndrome. Genet Med. 2007 Apr;9(4):208-12.
•   De Bie S, De Paepe A, Delvaux I, Davies S, Hennekam RC
  Marfan syndrome in Europe. Community Genet. 2004;7(4):216-25.
•   Dean JC
  Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet. 2007 Jul;15(7):724-33. Epub 2007 May 9. Review.
•   Fuchs J
  Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey. Acta Paediatr. 1997 Sep;86(9):947-52.
•   Gray JR, Bridges AB, Faed MJ, Pringle T, Baines P, Dean J, Boxer M
  Ascertainment and severity of Marfan syndrome in a Scottish population. J Med Genet. 1994 Jan;31(1):51-4.
•   Gray JR, Bridges AB, West RR, McLeish L, Stuart AG, Dean JC, Porteous ME, Boxer M, Davies SJ
  Life expectancy in British Marfan syndrome populations. Clin Genet. 1998 Aug;54(2):124-8.
•   Kohler M, Blair E, Risby P, Nickol AH, Wordsworth P, Forfar C, Stradling JR
  The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan's syndrome. Thorax. 2009 Feb;64(2):162-6. doi: 10.1136/thx.2008.102756. Epub 2008 Oct 13.
•   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.
•   LYNAS MA
  Marfan's syndrome in Northern Ireland; an account of thirteen families. Ann Hum Genet. 1958 Jul;22(4):289-309.
•   McKUSICK VA
  The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue. Circulation. 1955 Mar;11(3):321-42.
•   Metzker ML
  Sequencing technologies - the next generation. Nat Rev Genet. 2010 Jan;11(1):31-46. doi: 10.1038/nrg2626. Epub 2009 Dec 8. Review.
•   Murdoch JL, Walker BA, Halpern BL, Kuzma JW, McKusick VA
  Life expectancy and causes of death in the Marfan syndrome. N Engl J Med. 1972 Apr 13;286(15):804-8.
•   Peters K, Apse K, Blackford A, McHugh B, Michalic D, Biesecker B
  Living with Marfan syndrome: coping with stigma. Clin Genet. 2005 Jul;68(1):6-14.
•   Peters KF, Kong F, Hanslo M, Biesecker BB
  Living with Marfan syndrome III. Quality of life and reproductive planning. Clin Genet. 2002 Aug;62(2):110-20.
•   Peters KF, Kong F, Horne R, Francomano CA, Biesecker BB
  Living with Marfan syndrome I. Perceptions of the condition. Clin Genet. 2001 Oct;60(4):273-82.
•   Rand-Hendriksen S, Johansen H, Semb SO, Geiran O, Stanghelle JK, Finset A
  Health-related quality of life in Marfan syndrome: a cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis. Genet Med. 2010 Aug;12(8):517-24. doi: 10.1097/GIM.0b013e3181ea4c1c.
•   Rand-Hendriksen S, Lundby R, Tjeldhorn L, Andersen K, Offstad J, Semb SO, Smith HJ, Paus B, Geiran O
  Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome. Eur J Hum Genet. 2009 Oct;17(10):1222-30. doi: 10.1038/ejhg.2009.30. Epub 2009 Mar 18. Erratum in: Eur J Hum Genet. 2009 Nov;17(11):1526.
•   Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, Roman MJ, Boxer M, Devereux RB, Tsipouras P
  Life expectancy in the Marfan syndrome. Am J Cardiol. 1995 Jan 15;75(2):157-60.
•   Siu SC, Silversides CK
  Bicuspid aortic valve disease. J Am Coll Cardiol. 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. Review.
•   Stochholm K, Gravholt CH, Laursen T, Laurberg P, Andersen M, Kristensen LØ, Feldt-Rasmussen U, Christiansen JS, Frydenberg M, Green A
  Mortality and GH deficiency: a nationwide study. Eur J Endocrinol. 2007 Jul;157(1):9-18.
•   Stochholm K, Hjerrild B, Mortensen KH, Juul S, Frydenberg M, Gravholt CH
  Socioeconomic parameters and mortality in Turner syndrome. Eur J Endocrinol. 2012 Jun;166(6):1013-9. doi: 10.1530/EJE-11-1066. Epub 2012 Mar 21.
•   Stochholm K, Juul S, Gravholt CH
  Diagnosis and mortality in 47,XYY persons: a registry study. Orphanet J Rare Dis. 2010 May 29;5:15. doi: 10.1186/1750-1172-5-15.
•   Stochholm K, Juul S, Gravholt CH
  Mortality and incidence in women with 47,XXX and variants. Am J Med Genet A. 2010 Feb;152A(2):367-72. doi: 10.1002/ajmg.a.33214.
•   Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH
  Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006 Oct;91(10):3897-902. Epub 2006 Jul 18.
•   Sun QB, Zhang KZ, Cheng TO, Li SL, Lu BX, Zhang ZB, Wang W
  Marfan syndrome in China: a collective review of 564 cases among 98 families. Am Heart J. 1990 Oct;120(4):934-48.
•   Tadros TM, Klein MD, Shapira OM
  Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation. 2009 Feb 17;119(6):880-90. doi: 10.1161/CIRCULATIONAHA.108.795401. Review.
•   Vis JC, Timmermans J, Post MC, Budts W, Schepens MA, Thijs V, Schonewille WJ, de Bie RM, Plokker HW, Tijssen JG, Mulder BJ
  Increased prevalence of migraine in Marfan syndrome. Int J Cardiol. 2009 Aug 21;136(3):330-4. doi: 10.1016/j.ijcard.2008.05.037. Epub 2008 Aug 3.

Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations.

Details for clinical trial NCT02111668