Referanser til TRS` informasjon om Marfans syndrom

Under er referanser brukt i områdene medisinske forhold; psykologiske forhold; fysisk funksjon, aktivitet og trening; dagligliv- barnehage, skole, utdagging, arbeid og fritid.

  1. Kodolitsch Y, Backer J D, Schuler H , et al 2015: Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. The Application of Clinical Genetics. 2015:8, 137-155
  2. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for Marfan syndrome. J Med Genet. 2010;47(7):476-485.
  3.  Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005; 366: 1965–1976
  4. Fuchs, J. Marfan syndrome and other systemic disorders with congenital ectopis lentis. A Danish national survey. Acta Paediatr1997: 86: 947-952
  5. Sun QB, Zhang KZ, Cheng TO, et al. Marfan syndrome in China: a col­lective review of 564 cases among 98 families. Am Heart J. 1990;120(4): 934–948
  6. Pyeritz E. Marfan syndrome and related disorders. In: Rimoin DL,Connor JM, Pyeritz RE, et al., eds. Emery and Rimoin's principles and practice of medical genetics, 5th edn. Philadelphia, PA: Churchill Livingstone Elsevier, 2007: 3579–3624
  7. De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. American Journal of Medical Genetics. 1996;62:417-426
  8. Lerner-Ellis JP, Aldubayan SH, Hernandez AL, et al. The spectrum of FBN1, TFGBR1,TGFBR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). MolGenet and Metab. 2014;112:171-176
  9. Collod-B'eroud G, Bourdelles SL, Ades L, et al. Update of the UMD-FBN-1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003;22:199-208
  10. Jones KB, Sponseller PD, Erkula G, Sakai L, Ramirez F, et al. Symposium on the musculoskeletal Aspects of Marfan Syndrome: meeting rapport and state of the science. J Orthop res. 2006;25: 413-422
  11. Cistulli PA, Gotsopoulos H, Sullivan CE. Relationship between craniofacial abnormalities and sleep-disordered breathing in Marfan's syndrome. Chest. 2001 Nov;120(5):1455-1460
  12. Grahame R, Pyeritz RE. The Marfan syndrome: joint and skin manifestations are prevalent and correlated. Br J Rheumatol. 1995;34:126-131
  13. Jones KB, Sponseller PD, Erkula G, Sakai L, Ramirez F, et al. Symposium on the musculoskeletal Aspects of Marfan Syndrome: meeting rapport and state of the science. J Orthop res. 2006;25: 413-422
  14. Castellano JM, Silvay G, Castillo JG. Marfan syndrome: clinical surgical and anesthetic considerations.Semin in cardiothorac and vasc anes. 2013; 18(3):260-271
  15. Maumenee IH. 1981. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 79: 684–733
  16. Drolsum, L, Rand-Hendriksen S, Paus B, Geiran O, and Semb SO. 2015. Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome. Acta Ophthalmologica 93 (1); 46-53
  17. Taille C, Mariam Tchitchinadze M, Milleron O, Crestani B, Jondeau G. Characteristics Of Patients With Spontaneous Pneumothorax In Marfan Syndrome. Am J Respir Crit Care Med. 2015; 191:A3040
  18. Pyeritz RE, Fishman EK, Bernhardt BA, Siegelman SS. Dural ectasia is a common feature in the Marfan syndrome. Am J Hum Genet 1988;43:726–732
  19. Lundby R, Rand- Hendriksen S, Hald J K et al. Dural Ectasia in Marfan syndrom: A Case Control Study. Am J Neuroadiol 2009. 30; 1534-1540
  20. Vis JC, Timmermans J, Post MC et al. Increased prevalence of migraine in Marfan syndrome. Int J Cardiol. 2009; 136:330 – 334
  21. Rybczynski, M, Dietmar Koschyk D, Karmeier A, Gessler N et al. Frequency of Sleep Apnea in Adults With the Marfan Syndrome. Am J Cardiol. 2010; 105:1836-1841
  22. Nelson AM, Walega DR McCarthy RJ. Clinical Journal of Pain. 2015;31(12):1080-1086.
  23. Bathen T, Velvin G, Robinson HS, Rand-Hendriksen S. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors. Am J Med Genetics 2014 164A: 1931-1939
  24. Cook JR, Ramirez F. Clinical, diagnostic and therapeutic aspects of the Marfan syndrome.Adv in Exp Med and Biol. 2014;802:77-94
  25. Tinkle BT, Howard M. the COMMITTEE ON GENETICS. Health Supervision for Children With Marfan Syndrome. Pediatrics. 2013; 132 (4): e1059 -e1072
  26. Cox DA, Ginde S, Kuhlmann RS, Earing MG. Management of the pregnant woman with Marfan syndrome complicated by ascending aorta dilation. Arch Gynecol Obstret. 2014; 290(4):797-802
  27. Muiño Mosquera L, De Backer J. Managing aortic aneurysms and dissections during pregnancy. Expert review of cardiovascular therapy. 2015;13(6):703-714
  28. Regitz-Zagrosek V, Blomstrom Lundqvist C, Borghi C, Cifkova R, Ferreira R, Foidart JM, et al. ESC Guidelines on the management of cardiovascular diseases during pregnancy: the Task Force on the Management of Cardiovascular Diseases during Pregnancy of the European Society of Cardiology (ESC). European heart journal. 2011;32(24):3147-3197.
  29. Cheng A, Owens D. Marfan syndrome, inherited aortopathies and exercise: What is the right answer? British journal of sports medicine. 2016;50(2):100-104
  30. Pelliccia A, Fagard R, Bjornstad HH, Anastassakis A, Arbustini E, Assanelli D, et al. Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. European heart journal. 2005;26(14):1422-1445.
  31. Braverman AC, Harris KM, Kovacs RJ, Maron BJ. Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 7: Aortic Diseases, Including Marfan Syndrome: A Scientific Statement From the American Heart Association and American College of Cardiology. Circulation. 2015;132(22):e303-309
  32. Chaddha A, Eagle KA, Braverman AC, Kline-Rogers E, Hirsch AT, Brook R, et al. Exercise and Physical Activity for the Post-Aortic Dissection Patient: The Clinician's Conundrum. Clinical cardiology. 2015;38(11):647-651
  33. Velvin G, Bathen T, Rand-Hendriksen S, Geirdal A.Ø. Systematic review of the psychosocial aspects of living with Marfan syndrome. Clin Genet 2015:87:2:109-116
  34. Rand-Hendriksen S, Johansen H, Semb SO, Geiran O, StanghelleJK, Finset A. Health-related quality of life with Marfan syndrome: a cross-sectional study of Short Form 36 in 84 adults with verified diagnosis. Genet Med 2010: 12 (8): 517.
  35. De Bie S, De Paepe A, Delvaux I, Davis S, Hennekam RC. Marfan syndrome in Europe. A questionnaire study on patients perceptions .Community Genet 2004: 7 (4): 216–226.
  36. Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AO. Systematic review of the psychosocial aspects of living with Marfan syndrome. Clin Genet. 2015;87(2):109-116.
  37. Giarelli E, Bernhardt BA, Mack R, Pyeritz RE. Adolescents' transition to self-management of a chronic genetic disorder. Qualitative health research. 2008;18(4):441-457
  38. Schneider MB, Davis JG, Boxer RA, Fisher M, Friedman SB. Marfan syndrome in adolescents and young adults: psychosocial functioning and knowledge. Journal of developmental and behavioral pediatrics : JDBP. 1990;11(3):122-127.
  39. Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors. Am J Med Genet A. 2014;164A(8):1931-1939
  40. Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AO. Systematic review of chronic pain in persons with Marfan syndrome. Clin Genet. 2015. doi: 10.1111/cge.12699. (Epub ahead of print)
  41. Peters KF, Kong F, Hanslo M, Biesecker BB. Living with Marfan syndrome III. Quality of life and reproductive planning. Clin Genet. 2002;62 (2):110-120.
  42. Gallo AM, Angst D, Knafl KA, Hadley E, Smith C. Parents sharing information with their children about genetic conditions. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners. 2005;19(5):267-275.
  43. Goetz CM, Steiner K, Wild JM, Stark V et al. 2016. Health-related quality of life is unimpaired in children and adolescents with Marfan syndrome despite its destinctive phenotype. Acta Pædiatrica. 2016; 105:311-316.
  44. Tinkle BT, Saal HM. Health supervision for children with Marfan syndrome. Pediatrics. 2013;132(4):e1059-1072.
  45. Haine E, Salles JP, Khau Van Kien P, Conte-Auriol F, Gennero I, Plancke A, et al. Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2015;30(8):1369-1376.
  46. De Bie S, De Paepe A, Delvaux I, Davies S, Hennekam RC. Marfan Syndrome in Europe. A Questionaire Study on Patient Perceptions. Community Genet. 2004;7(4):216-225.
  47. Velvin G, Bathen T, Rand-Hendriksen S, Østertun Geirdal A. Work participation in adults with Marfan syndrome: Demographic characteristics, MFS related health symptoms, chronic pain, and fatigue. Am J Med Genet A. 2015;167(12):3082-3090
  48. Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors. Am J Med Genet A. 2014;164A(8):1931-1939
  49. Nelson AM, Walega DR, McCarthy RJ. The Incidence and Severity of Physical Pain Symptoms in Marfan Syndrome: A Survey of 993 Patients. The Clinical journal of pain. 2015;31(12):1080-1086.
  50. Thorsen K. MV. Et langt liv med Marfans syndrom. 1 ed. Oslo: Nasjonalt Kompetansesenter for Aldring og Helse; 2012. 48 s.
  51. Svenske Marfanforeningen "Må bra med Marfan". Friskvård för menniskor med Marfans syndrom och andra liknande tillstånd. http://marfanforeningen.se/Informationsmaterial/index.html
  52. Norsk faggruppe for lungeergoterapeuter. Energibesparende arbeidsmetoder ved lungesykdom. http://www.nfle.no/energibesp.php
  53. Helsedirektoratet.  Aktivitetshåndboken – Fysisk aktivitet i forebygging og behandling. 2009. https://helsedirektoratet.no/retningslinjer/aktivitetshandboken-fysisk-aktivitet-i-forebygging-og-behandling
  54. Corone S, Iliou MC, Pierre B, Feige JM, Odjinkem D, Farrokhi T, et al. French registry of cases of type I acute aortic dissection admitted to a cardiac rehabilitation center after surgery. European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology. 2009;16(1):91-95. 
  55. Cheng A, Owens D. Marfan syndrome, inherited aortopathies and exercise: What is the right answer? British journal of sports medicine. 2016;50(2):100-104.
  56. Pelliccia A, Fagard R, Bjørnstad HH, Anastassakis A, Arbustini E, Assanelli D, et al. Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. European heart journal. 2005;26(14):1422-1445. 
  57. Braverman AC, Harris KM, Kovacs RJ, Maron BJ. Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 7: Aortic Diseases, Including Marfan Syndrome: A Scientific Statement From the American Heart Association and American College of Cardiology. Circulation. 2015;132(22):e303-309. 
  58. Chaddha A, Eagle KA, Braverman AC, Kline-Rogers E, Hirsch AT, Brook R, et al. Exercise and Physical Activity for the Post-Aortic Dissection Patient: The Clinician's Conundrum. Clinical cardiology. 2015;38(11):647-651. 
  59. Tinkle BT, Saal HM. Health supervision for children with Marfan syndrome. Pediatrics. 2013;132(4):e1059-1072.
  60. Haine E, Salles JP, Khau Van Kien P, Conte-Auriol F, Gennero I, Plancke A, et al. Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2015;30(8):1369-1376. 
  61. Hasan A, Poloniecki J, Child A. Aging in Marfan syndrome. International journal of clinical practice. 2007;61(8):1308-1320. 
  62. Grahame R, Pyeritz RE. The Marfan syndrome: joint and skin manifestations are prevalent and correlated. British journal of rheumatology. 1995;34(2):126-131. 
  63. Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AØ. Systematic review of chronic pain in persons with Marfan syndrome. Clin Genet. 2015. doi: 10.1111/cge.12699. (Epub ahead of print). 
  64. Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors. Am J Med Genet A. 2014;164A(8):1931-1939.