SCOPUS 정보 검색 플랫폼

Genetics in Medicine

Volumn 14, Issue 1, 2012, Pages 171-177

Evaluation of the adolescent or adult with some features of Marfan syndrome

(1) Pyeritz, Reed E a

a UNIVERSITY OF PENNSYLVANIA (United States)

Author keywords

aortic aneurysm; aortic dissection; fibrillin; Loeys Dietz syndrome; marfanoid

Indexed keywords

ADOLESCENT DISEASE; ADULT DISEASE; ARTICLE; CLINICAL EXAMINATION; FOLLOW UP; HUMAN; MARFAN SYNDROME; MEDICAL GENETICS; MEDICAL SPECIALIST; PATIENT REFERRAL; PRACTICE GUIDELINE;

ADOLESCENT; ADULT; DIAGNOSIS, DIFFERENTIAL; HUMANS; MARFAN SYNDROME;

EID: 84855559208 PISSN: 10983600 EISSN: 15300366 Source Type: Journal
DOI: 10.1038/gim.2011.48 Document Type: Article

Times cited : (14)

References (23)

1
- 0029971236
- Revised diagnostic criteria for the Marfan syndrome
- DOI 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2- R
- DePaepe A, Deitz HC, Devereux RB, Hennekam R, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417-426. (Pubitemid 26131122)
- (1996) American Journal of Medical Genetics , vol.62 , Issue.4 , pp. 417-426
- De Paepe, A.¹ Devereux, R.B.² Dietz, H.C.³ Hennekam, R.C.M.⁴ Pyeritz, R.E.⁵

2
- 77956127537
- The revised Ghent nosology for the Marfan syndrome
- Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476-485.
- (2010) J Med Genet , vol.47 , pp. 476-485
- Loeys, B.L.¹ Dietz, H.C.² Braverman, A.C.³

3
- 0023917651
- International nosology of heritable disorders of connective tissue, Berlin, 1986
- Beighton P, de Paepe A, Danks D, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 1988;29:581-594.
- (1988) Am J Med Genet , vol.29 , pp. 581-594
- Beighton, P.¹ De Paepe, A.² Danks, D.³

4
- 0024396654
- Two-dimensional echocardiographic aortic root dimensions in normal children and adults
- DOI 10.1016/0002-9149(89)90430-X
- Roman MJ, Devereux RB, Kramer-Fox R, et al. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989;64:507-512. (Pubitemid 19214582)
- (1989) American Journal of Cardiology , vol.64 , Issue.8 , pp. 507-512
- Roman, M.J.¹ Devereux, R.B.² Kramer-Fox, R.³ O'Loughlin, J.⁴

5
- 20144367207
- A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
- DOI 10.1038/ng1511
- Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-281. (Pubitemid 41716254)
- (2005) Nature Genetics , vol.37 , Issue.3 , pp. 275-281
- Loeys, B.L.¹ Chen, J.² Neptune, E.R.³ Judge, D.P.⁴ Podowski, M.⁵ Holm, T.⁶ Meyers, J.⁷ Leitch, C.C.⁸ Katsanis, N.⁹ Sharifi, N.¹⁰ Xu, F.L.¹¹ Myers, L.A.¹² Spevak, P.J.¹³ Cameron, D.E.¹⁴ De Backer, J.¹⁵ Hellemans, J.¹⁶ Chen, Y.¹⁷ Davis, E.C.¹⁸ Webb, C.L.¹⁹ Kress, W.²⁰ more..

6
- 33747812887
- Aneurysm syndromes caused by mutations in the TGF-β receptor
- DOI 10.1056/NEJMoa055695
- Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in TGF-βreceptor. N Engl J Med 2006;355:788-798. (Pubitemid 44285584)
- (2006) New England Journal of Medicine , vol.355 , Issue.8 , pp. 788-798
- Loeys, B.L.¹ Schwarze, U.² Holm, T.³ Callewaert, B.L.⁴ Thomas, G.H.⁵ Pannu, H.⁶ De Backer, J.F.⁷ Oswald, G.L.⁸ Symoens, S.⁹ Manouvrier, S.¹⁰ Roberts, A.E.¹¹ Faravelli, F.¹² Alba Greco, M.¹³ Pyeritz, R.E.¹⁴ Milewicz, D.M.¹⁵ Coucke, P.J.¹⁶ Cameron, D.E.¹⁷ Braverman, A.C.¹⁸ Byers, P.H.¹⁹ De Paepe, A.M.²⁰ Dietz, H.C.²¹ more..

7
- 41049094694
- Marfan syndrome and related disorders
- Rimoin DL, Conner JM, Pyeritz RE, Korf BR (eds) Churchill Livingstone: Philadelphia
- Pyeritz RE. Marfan syndrome and related disorders. In: Rimoin DL, Conner JM, Pyeritz RE, Korf BR (eds). Principles and Practice of Medical Genetics, 5th edn. Churchill Livingstone: Philadelphia, 2007; 3579-3624.
- (2007) Principles and Practice of Medical Genetics, 5th Edn , pp. 3579-3624
- Pyeritz, R.E.¹

8
- 34247216751
- Abdominal visceral findings in patients with Marfan syndrome
- DOI 10.1097/GIM.0b013e3180423cb3, PII 0012581720070400000002
- Chow K, Pyeritz RE, Litt HI. Abdominal visceral findings in patients with Marfan syndrome. Genet Med 2007;9:208-212. (Pubitemid 46626089)
- (2007) Genetics in Medicine , vol.9 , Issue.4 , pp. 208-212
- Chow, K.¹ Pyeritz, R.E.² Litt, H.I.³

9
- 28444470470
- Recent progress towards a molecular understanding of Marfan syndrome
- DOI 10.1002/ajmg.c.30068
- Dietz HC, Loeys B, Carta L, et al. Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet 2005;139:4-9. (Pubitemid 41739241)
- (2005) American Journal of Medical Genetics - Seminars in Medical Genetics , vol.139 C , Issue.1 , pp. 4-9
- Dietz, H.C.¹ Loeys, B.² Carta, L.³ Ramirez, F.⁴

10
- 44649182369
- Medical management of marfan syndrome
- DOI 10.1161/CIRCULATIONAHA.107.693523, PII 0000301720080527000014
- Keane MG, Pyeritz RE. Medical management of Marfan syndrome. Circulation 2008;117:2802-2813. (Pubitemid 351771336)
- (2008) Circulation , vol.117 , Issue.21 , pp. 2802-2813
- Keane, M.G.¹ Pyeritz, R.E.²

11
- 34548775221
- Rationale and design of a randomized clinical trial of β-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome
- DOI 10.1016/j.ahj.2007.06.024, PII S0002870307005285
- Lacro RV, Dietz HC, Wruck LM, et al. Rationale and design of a randomized clinical trial of beta blocker therapy (atenolol) vs. angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J 2007;154:624-631. (Pubitemid 47429596)
- (2007) American Heart Journal , vol.154 , Issue.4 , pp. 624-631
- Lacro, R.V.¹ Dietz, H.C.² Wruck, L.M.³ Bradley, T.J.⁴ Colan, S.D.⁵ Devereux, R.B.⁶ Klein, G.L.⁷ Li, J.S.⁸ Minich, L.L.⁹ Paridon, S.M.¹⁰ Pearson, G.D.¹¹ Printz, B.F.¹² Pyeritz, R.E.¹³ Radojewski, E.¹⁴ Roman, M.J.¹⁵ Saul, J.P.¹⁶ Stylianou, M.P.¹⁷ Mahony, L.¹⁸

12
- 1842836370
- Prevalence of aortic root dilation in the Ehlers-Danlos syndrome
- DOI 10.1097/00125817-200205000-00003
- Wenstrup RJ, Meyer RA, Lyle JS, et al. Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genet Med 2002;4:112-117. (Pubitemid 44698569)
- (2002) Genetics in Medicine , vol.4 , Issue.3 , pp. 112-117
- Wenstrup, R.J.¹ Meyer, R.A.² Lyle, J.S.³ Hoechstetter, L.⁴ Rose, P.S.⁵ Levy, H.P.⁶ Francomano, C.A.⁷

13
- 84855540719
- Ehlers-Danlos syndrome, hypermobility type
- (updated 14 December 2010) Copyright, University of Washington, Seattle Accessed 29 November 2011
- Levy HP (updated 14 December 2010). Ehlers-Danlos syndrome, hypermobility type. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2006. http://www.ncbi.nlm.nih.gov/books/NBK1279/. Accessed 29 November 2011.
- (1997) GeneReviews at GeneTests: Medical Genetics Information Resource (Database Online)
- Levy, H.P.¹

14
- 0015813342
- Articular mobility in an African population
- Beighton P, Solomon L, Soskolne CL. Articular mobility in an African population. Ann Rhem Dis 1973;32:413-418.
- (1973) Ann Rhem Dis , vol.32 , pp. 413-418
- Beighton, P.¹ Solomon, L.² Soskolne, C.L.³

15
- 33644627494
- Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
- Zhu L, Vranckx R, Van Kien PK, et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006;38:343-349.
- (2006) Nat Genet , vol.38 , pp. 343-349
- Zhu, L.¹ Vranckx, R.² Van Kien, P.K.³

16
- 84871333396
- (updated 11 January 2011) Gene Reviews at GeneTests: Medical Genetics Information Resource (database online) Copyright, University of Washington, Seattle Accessed 29 November 2011
- Milewicz DM, Regaldo E (updated 11 January 2011). Thoracic aortic aneurysms and aortic dissections. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2006. http://www.ncbi.nlm.nih.gov/books/NBK1120/. Accessed 29 November 2011.
- (1997) Thoracic Aortic Aneurysms and Aortic Dissections
- Milewicz, D.M.¹ Regaldo, E.²

17
- 84855563708
- (updated 29 April 2008) GeneReviews at GeneTests: Medical Genetics Information Resource (database online) Copyright, University of Washington, Seattle. Accessed 29 November 2011
- Loeys BL, Dietz HC (updated 29 April 2008). Loeys-Dietz syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2006. http://www.ncbi.nlm.nih.gov/books/NBK1130/. Accessed 29 November 2011.
- (1997) Loeys-Dietz Syndrome
- Loeys, B.L.¹ Dietz, H.C.²

18
- 84855532969
- (updated 4 May 2007) GeneReviews at GeneTests: Medical Genetics Information Resource (database online) Copyright, University of Washington, Seattle Accessed 29 November 2011
- Godfrey M (updated 4 May 2007). Congenital contractural arachnodactyly. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2006. http://www.ncbi.nlm.nih.gov/books/NBK1386/. Accessed 29 November 2011.
- (1997) Congenital Contractural Arachnodactyly
- Godfrey, M.¹

19
- 0024321925
- Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum
- DOI 10.1001/jama.262.4.523
- Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum. JAMA 1989;262:523-528. (Pubitemid 19181261)
- (1989) Journal of the American Medical Association , vol.262 , Issue.4 , pp. 523-528
- Glesby, M.J.¹ Pyeritz, R.E.²

20
- 33645381280
- Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
- Coucke PJ, Willaert A, Wessels MW, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Gene 2006;38:452-457.
- (2006) Nat Gene , vol.38 , pp. 452-457
- Coucke, P.J.¹ Willaert, A.² Wessels, M.W.³

21
- 33744537005
- Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve
- DOI 10.1016/j.bbrc.2006.05.046, PII S0006291X06010862
- Mohamed SA, Aherrahrou Z, Liptau H, et al. Novel missense mutations (p.T596M and p.P1797H) on NOTCH1 in patients with bicuspid aortic valve. Biochem Biophys Res Commun 2006;345:1460-1465. (Pubitemid 43817895)
- (2006) Biochemical and Biophysical Research Communications , vol.345 , Issue.4 , pp. 1460-1465
- Mohamed, S.A.¹ Aherrahrou, Z.² Liptau, H.³ Erasmi, A.W.⁴ Hagemann, C.⁵ Wrobel, S.⁶ Borzym, K.⁷ Schunkert, H.⁸ Sievers, H.H.⁹ Erdmann, J.¹⁰

22
- 84855545491
- Common disorders of connective tissue
- King RA, Rotter JI, Motulsky AG (eds) 2nd edn. Oxford, University Press: New York
- Pyeritz RE. Common disorders of connective tissue. In: King RA, Rotter JI, Motulsky AG (eds). The Genetic Basis of Common Diseases, 2nd edn. Oxford University Press: New York, 2002:638-645.
- (2002) The Genetic Basis of Common Diseases , pp. 638-645
- Pyeritz, R.E.¹

23
- 78650925035
- Idiopathic scoliosis: Cracking the genetic code and what does it mean?
- Miller NH. Idiopathic scoliosis: cracking the genetic code and what does it mean? J Pediatr Orthop 2011;31:S49-52.
- (2011) J Pediatr Orthop , vol.31
- Miller, N.H.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.