-
1
-
-
33846412622
-
Guidelines for the diagnosis and management of Marfan syndrome
-
Feb;
-
AdeRs L. Guidelines for the diagnosis and management of Marfan syndrome. Heart Lung Circ. 2007 Feb; 16 (1): 28-30.
-
(2007)
Heart Lung Circ
, vol.16
, Issue.1
, pp. 28-30
-
-
AdeRs, L.1
-
2
-
-
34948849376
-
Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: A randomized controlled trial
-
Oct 3;
-
Ahimastos AA, Aggarwal A, D'Orsa KM, Formosa MF, White AJ, Savarirayan R, Dart AM, Kingwell BA. Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. JAMA. 2007 Oct 3; 298 (13): 1539-47.
-
(2007)
JAMA
, vol.298
, Issue.13
, pp. 1539-1547
-
-
Ahimastos, A.A.1
Aggarwal, A.2
D'Orsa, K.M.3
Formosa, M.F.4
White, A.J.5
Savarirayan, R.6
Dart, A.M.7
Kingwell, B.A.8
-
3
-
-
55149098751
-
Aortic dissection in Turner syndrome
-
Nov;
-
Bondy CA. Aortic dissection in Turner syndrome. Curr Opin Cardiol. 2008 Nov; 23 (6): 519-26.
-
(2008)
Curr Opin Cardiol
, vol.23
, Issue.6
, pp. 519-526
-
-
Bondy, C.A.1
-
4
-
-
31444435411
-
A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: Biochemical and computational analysis
-
Booms P, Ney A, Barthel F, Moroy G, Counsell D, Gille C, Guo G, Pregla R, Mundlos S, Alix AJ, Robinson PN. A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis. J Mol Cell Cardiol. 2006; 40: 234-46.
-
(2006)
J Mol Cell Cardiol
, vol.40
, pp. 234-246
-
-
Booms, P.1
Ney, A.2
Barthel, F.3
Moroy, G.4
Counsell, D.5
Gille, C.6
Guo, G.7
Pregla, R.8
Mundlos, S.9
Alix, A.J.10
Robinson, P.N.11
-
5
-
-
45949092534
-
-
Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC, 3rd. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med. 2008 Jun 26; 358 (26): 2787-95.
-
Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC, 3rd. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med. 2008 Jun 26; 358 (26): 2787-95.
-
-
-
-
6
-
-
0035910615
-
Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome
-
Bunton TE, Biery NJ, Myers L, Gayraud B, Ramirez F, Dietz HC. Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res. 2001; 88: 37-43.
-
(2001)
Circ Res
, vol.88
, pp. 37-43
-
-
Bunton, T.E.1
Biery, N.J.2
Myers, L.3
Gayraud, B.4
Ramirez, F.5
Dietz, H.C.6
-
7
-
-
51449122089
-
Osteogenesis imperfecta and aortic dissection
-
Jul;
-
Byra P, Chillag S, Petit S. Osteogenesis imperfecta and aortic dissection. Am J Med Sci. 2008 Jul; 336 (1): 70-2.
-
(2008)
Am J Med Sci
, vol.336
, Issue.1
, pp. 70-72
-
-
Byra, P.1
Chillag, S.2
Petit, S.3
-
8
-
-
0026743940
-
Intracranial aneurysms in autosomal dominant polycystic kidney disease
-
Sep 24;
-
Chapman AB, Rubinstein D, Hughes R, Stears JC, Earnest MP, Johnson AM, Gabow PA, Kaehny WD. Intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med. 1992 Sep 24; 327 (13): 916-20.
-
(1992)
N Engl J Med
, vol.327
, Issue.13
, pp. 916-920
-
-
Chapman, A.B.1
Rubinstein, D.2
Hughes, R.3
Stears, J.C.4
Earnest, M.P.5
Johnson, A.M.6
Gabow, P.A.7
Kaehny, W.D.8
-
9
-
-
0018903175
-
Polycystic kidneys and abdominal aortic aneurysms
-
Mar 22;
-
Chapman JR, Hilson AJ. Polycystic kidneys and abdominal aortic aneurysms. Lancet. 1980 Mar 22; 1 (8169): 646-7.
-
(1980)
Lancet
, vol.1
, Issue.8169
, pp. 646-647
-
-
Chapman, J.R.1
Hilson, A.J.2
-
10
-
-
42549132541
-
Long-term doxycycline is more effective than atenolol to prevent thoracic aortic aneurysm in marfan syndrome through the inhibition of matrix metalloproteinase-2 and -9
-
Apr 25;
-
Chung AW, Yang HH, Radomski MW, van Breemen C. Long-term doxycycline is more effective than atenolol to prevent thoracic aortic aneurysm in marfan syndrome through the inhibition of matrix metalloproteinase-2 and -9. Circ Res. 2008 Apr 25; 102 (8): e73-85.
-
(2008)
Circ Res
, vol.102
, Issue.8
-
-
Chung, A.W.1
Yang, H.H.2
Radomski, M.W.3
van Breemen, C.4
-
11
-
-
0029162652
-
Sleep apnea in Marfan's syndrome. Increased upper airway collapsibility during sleep
-
Cistulli PA, Sullivan CE. Sleep apnea in Marfan's syndrome. Increased upper airway collapsibility during sleep. Chest. 1995; 108: 631-5.
-
(1995)
Chest
, vol.108
, pp. 631-635
-
-
Cistulli, P.A.1
Sullivan, C.E.2
-
12
-
-
33645381280
-
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
-
Apr;
-
Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006 Apr; 38 (4): 452-7.
-
(2006)
Nat Genet
, vol.38
, Issue.4
, pp. 452-457
-
-
Coucke, P.J.1
Willaert, A.2
Wessels, M.W.3
Callewaert, B.4
Zoppi, N.5
De Backer, J.6
Fox, J.E.7
Mancini, G.M.8
Kambouris, M.9
Gardella, R.10
Facchetti, F.11
Willems, P.J.12
Forsyth, R.13
Dietz, H.C.14
Barlati, S.15
Colombi, M.16
Loeys, B.17
De Paepe, A.18
-
13
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
De Paepe A, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996; 62: 417-26.
-
(1996)
Am J Med Genet
, vol.62
, pp. 417-426
-
-
De Paepe, A.1
Devereux, R.B.2
Dietz, H.C.3
Hennekam, R.C.M.4
Pyeritz, R.E.5
-
15
-
-
0033017848
-
Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis
-
Mar;
-
Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology. 1999 Mar; 29 (3): 822-9.
-
(1999)
Hepatology
, vol.29
, Issue.3
, pp. 822-829
-
-
Emerick, K.M.1
Rand, E.B.2
Goldmuntz, E.3
Krantz, I.D.4
Spinner, N.B.5
Piccoli, D.A.6
-
16
-
-
34548232284
-
-
Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007; 81 (3): 454-66.
-
Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007; 81 (3): 454-66.
-
-
-
-
17
-
-
0032422555
-
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
-
Dec;
-
Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec; 21 (6): 1315-25.
-
(1998)
Neuron
, vol.21
, Issue.6
, pp. 1315-1325
-
-
Fox, J.W.1
Lamperti, E.D.2
Eksioglu, Y.Z.3
Hong, S.E.4
Feng, Y.5
Graham, D.A.6
Scheffer, I.E.7
Dobyns, W.B.8
Hirsch, B.A.9
Radtke, R.A.10
Berkovic, S.F.11
Huttenlocher, P.R.12
Walsh, C.A.13
-
18
-
-
0035869147
-
-
Glancy DL, Wegmann M, Dhurandhar RW. Aortic dissection and patent ductus arteriosus in three generations. Am J Cardiol. 2001 Mar 15; 87 (6): 813-5, A9.
-
Glancy DL, Wegmann M, Dhurandhar RW. Aortic dissection and patent ductus arteriosus in three generations. Am J Cardiol. 2001 Mar 15; 87 (6): 813-5, A9.
-
-
-
-
19
-
-
0033614448
-
Replacement of the aortic root in patients with Marfan syndrome
-
Gott VL, Greene PS, Alejo DE, Cameron DE, Naftel DC, Miller DC, Gillinov AM, Laschinger JC, Pyeritz RE. Replacement of the aortic root in patients with Marfan syndrome. N Engl J Med. 1999; 340: 1307-13.
-
(1999)
N Engl J Med
, vol.340
, pp. 1307-1313
-
-
Gott, V.L.1
Greene, P.S.2
Alejo, D.E.3
Cameron, D.E.4
Naftel, D.C.5
Miller, D.C.6
Gillinov, A.M.7
Laschinger, J.C.8
Pyeritz, R.E.9
-
20
-
-
0033614448
-
Replacement of the aortic root in patients with Marfan syndrome
-
Gott VL GP, Alejo DE, et al. Replacement of the aortic root in patients with Marfan syndrome. N Engl J Med. 1999; 340: 1307-13.
-
(1999)
N Engl J Med
, vol.340
, pp. 1307-1313
-
-
Gott1
VL, G.P.2
Alejo, D.E.3
-
21
-
-
0035933045
-
Familial thoracic aortic aneurysms and dissections: Genetic heterogeneity with a major locus mapping to 5q 13-14
-
May 22;
-
Guo D, Hasham S, Kuang SQ, Vaughan CJ, Boerwinkle E, Chen H, Abuelo D, Dietz HC, Basson CT, Shete SS, Milewicz DM. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q 13-14. Circulation. 2001 May 22; 103 (20): 2461-8.
-
(2001)
Circulation
, vol.103
, Issue.20
, pp. 2461-2468
-
-
Guo, D.1
Hasham, S.2
Kuang, S.Q.3
Vaughan, C.J.4
Boerwinkle, E.5
Chen, H.6
Abuelo, D.7
Dietz, H.C.8
Basson, C.T.9
Shete, S.S.10
Milewicz, D.M.11
-
22
-
-
33750538682
-
-
Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S, Robinson PN. Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fi-brillin-1 fragment. Circulation. 2006 Oct 24; 114 (17): 1855-62.
-
Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S, Robinson PN. Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fi-brillin-1 fragment. Circulation. 2006 Oct 24; 114 (17): 1855-62.
-
-
-
-
23
-
-
33645672459
-
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
-
Apr 7;
-
Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006 Apr 7; 312 (5770): 117-21.
-
(2006)
Science
, vol.312
, Issue.5770
, pp. 117-121
-
-
Habashi, J.P.1
Judge, D.P.2
Holm, T.M.3
Cohn, R.D.4
Loeys, B.L.5
Cooper, T.K.6
Myers, L.7
Klein, E.C.8
Liu, G.9
Calvi, C.10
Podowski, M.11
Neptune, E.R.12
Halushka, M.K.13
Bedja, D.14
Gabrielson, K.15
Rifkin, D.B.16
Carta, L.17
Ramirez, F.18
Huso, D.L.19
Dietz, H.C.20
more..
-
24
-
-
0022575921
-
Cardiovascular involvement in osteogenesis imperfecta
-
Jan;
-
Hortop J, Tsipouras P, Hanley JA, Maron BJ, Shapiro JR. Cardiovascular involvement in osteogenesis imperfecta. Circulation. 1986 Jan; 73 (1): 54-61.
-
(1986)
Circulation
, vol.73
, Issue.1
, pp. 54-61
-
-
Hortop, J.1
Tsipouras, P.2
Hanley, J.A.3
Maron, B.J.4
Shapiro, J.R.5
-
25
-
-
0023786508
-
Echocardiographic findings in autosomal dominant polycystic kidney disease
-
Oct 6;
-
Hossack KF, Leddy CL, Johnson AM, Schrier RW, Gabow PA. Echocardiographic findings in autosomal dominant polycystic kidney disease. N Engl J Med. 1988 Oct 6;319(14):907-12.
-
(1988)
N Engl J Med
, vol.319
, Issue.14
, pp. 907-912
-
-
Hossack, K.F.1
Leddy, C.L.2
Johnson, A.M.3
Schrier, R.W.4
Gabow, P.A.5
-
26
-
-
33646896247
-
Fibulin-4: A novel gene for an autosomal recessive cutis laxa syndrome
-
Jun;
-
Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006 Jun; 78 (6): 1075-80.
-
(2006)
Am J Hum Genet
, vol.78
, Issue.6
, pp. 1075-1080
-
-
Hucthagowder, V.1
Sausgruber, N.2
Kim, K.H.3
Angle, B.4
Marmorstein, L.Y.5
Urban, Z.6
-
27
-
-
69949100025
-
Detection of dural ectasia in diagnosis of Marfan's syndrome
-
Jonszta T, Prochazka V, Czerny D, Vavrova M, Chmelova J. Detection of dural ectasia in diagnosis of Marfan's syndrome VASA 2008 (37) 4: 364-370.
-
(2008)
VASA
, vol.4
, Issue.37
, pp. 364-370
-
-
Jonszta, T.1
Prochazka, V.2
Czerny, D.3
Vavrova, M.4
Chmelova, J.5
-
28
-
-
28244441145
-
Marfan's syndrome
-
Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005; 366 (9501): 1965-76.
-
(2005)
Lancet
, vol.366
, Issue.9501
, pp. 1965-1976
-
-
Judge, D.P.1
Dietz, H.C.2
-
29
-
-
0041842607
-
Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families
-
Jul;
-
Kakko S, Raisanen T, Tamminen M, Airaksinen J, Groundstroem K, Juvonen T, Ylitalo A, Uusimaa P, Savolainen MJ. Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families. J Thorac Cardiovasc Surg. 2003 Jul; 126 (1): 106-13.
-
(2003)
J Thorac Cardiovasc Surg
, vol.126
, Issue.1
, pp. 106-113
-
-
Kakko, S.1
Raisanen, T.2
Tamminen, M.3
Airaksinen, J.4
Groundstroem, K.5
Juvonen, T.6
Ylitalo, A.7
Uusimaa, P.8
Savolainen, M.J.9
-
30
-
-
1642271395
-
Vascular anomalies in Alagille syndrome: A significant cause of morbidity and mortality
-
Mar 23;
-
Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation. 2004 Mar 23; 109 (11): 1354-8.
-
(2004)
Circulation
, vol.109
, Issue.11
, pp. 1354-1358
-
-
Kamath, B.M.1
Spinner, N.B.2
Emerick, K.M.3
Chudley, A.E.4
Booth, C.5
Piccoli, D.A.6
Krantz, I.D.7
-
31
-
-
16544395254
-
Familial thoracic aortic aneurysm / dissection with patent ductus arteriosus: Genetic arguments for a particular pathophysiological entity
-
Mar;
-
Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X. Familial thoracic aortic aneurysm / dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. Eur J Hum Genet. 2004 Mar; 12 (3): 173-80.
-
(2004)
Eur J Hum Genet
, vol.12
, Issue.3
, pp. 173-180
-
-
Khau Van Kien, P.1
Wolf, J.E.2
Mathieu, F.3
Zhu, L.4
Salve, N.5
Lalande, A.6
Bonnet, C.7
Lesca, G.8
Plauchu, H.9
Dellinger, A.10
Nivelon-Chevallier, A.11
Brunotte, F.12
Jeunemaitre, X.13
-
32
-
-
22144495760
-
Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13
-
Jul 12;
-
Khau Van Kien P, Mathieu F, Zhu L, Lalande A, Betard C, Lathrop M, Brunotte F, Wolf JE, Jeunemaitre X. Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13. Circulation. 2005 Jul 12; 112 (2): 200-6.
-
(2005)
Circulation
, vol.112
, Issue.2
, pp. 200-206
-
-
Khau Van Kien, P.1
Mathieu, F.2
Zhu, L.3
Lalande, A.4
Betard, C.5
Lathrop, M.6
Brunotte, F.7
Wolf, J.E.8
Jeunemaitre, X.9
-
33
-
-
70349448395
-
-
Kiotsekoglou A, Sutherland GR, Moggridge JC, Nassiri DK, Camm J, Child AH. The unravelling of primary myocardial impairment in Marfan syndrome by modern echocardiography. Heart. 2009 Feb 17.
-
Kiotsekoglou A, Sutherland GR, Moggridge JC, Nassiri DK, Camm J, Child AH. The unravelling of primary myocardial impairment in Marfan syndrome by modern echocardiography. Heart. 2009 Feb 17.
-
-
-
-
34
-
-
34247236594
-
Orthotopic heart transplantation in patients with Marfan syndrome
-
May;
-
Knosalla C, Weng YG, Hammerschmidt R, Pasic M, Schmitt-Knosalla I, Grauhan O, Dandel M, Lehmkuhl HB, Hetzer R. Orthotopic heart transplantation in patients with Marfan syndrome. Ann Thorac Surg. 2007 May; 83 (5): 1691-5.
-
(2007)
Ann Thorac Surg
, vol.83
, Issue.5
, pp. 1691-1695
-
-
Knosalla, C.1
Weng, Y.G.2
Hammerschmidt, R.3
Pasic, M.4
Schmitt-Knosalla, I.5
Grauhan, O.6
Dandel, M.7
Lehmkuhl, H.B.8
Hetzer, R.9
-
35
-
-
60549093606
-
The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan's syndrome
-
Feb;
-
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.
-
(2009)
Thorax
, vol.64
, Issue.2
, pp. 162-166
-
-
Kohler, M.1
Blair, E.2
Risby, P.3
Nickol, A.H.4
Wordsworth, P.5
Forfar, C.6
Stradling, J.R.7
-
36
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005; 37: 275-81.
-
(2005)
Nat Genet
, vol.37
, 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
Coucke, P.21
Rifkin, D.B.22
De Paepe, A.M.23
Dietz, H.C.24
more..
-
37
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-beta receptor
-
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006; 355: 788-98.
-
(2006)
N Engl J Med
, vol.355
, 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
Greco, M.A.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..
-
38
-
-
34548307188
-
-
Loscalzo ML, Goh DL, Loeys B, Kent KC, Spevak PJ, Dietz HC. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A. 2007 Sep 1; 143A (17): 1960-7.
-
Loscalzo ML, Goh DL, Loeys B, Kent KC, Spevak PJ, Dietz HC. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A. 2007 Sep 1; 143A (17): 1960-7.
-
-
-
-
39
-
-
33947144645
-
Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations
-
Apr;
-
Martin LJ, Ramachandran V, Cripe LH, Hinton RB, Andelfi nger G, Tabangin M, Shooner K, Keddache M, Benson DW. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet. 2007 Apr; 121 (2): 275-84.
-
(2007)
Hum Genet
, vol.121
, Issue.2
, pp. 275-284
-
-
Martin, L.J.1
Ramachandran, V.2
Cripe, L.H.3
Hinton, R.B.4
Andelfi nger, G.5
Tabangin, M.6
Shooner, K.7
Keddache, M.8
Benson, D.W.9
-
40
-
-
34347340473
-
Aortic dilatation and dissection in Turner syndrome
-
Oct 9;
-
Matura LA, Ho VB, Rosing DR, Bondy CA. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007 Oct 9; 116 (15): 1663-70.
-
(2007)
Circulation
, vol.116
, Issue.15
, pp. 1663-1670
-
-
Matura, L.A.1
Ho, V.B.2
Rosing, D.R.3
Bondy, C.A.4
-
41
-
-
34447634252
-
-
McKellar SH, Tester DJ, Yagubyan M, Majumdar R, Ackerman MJ, Sundt TM, 3rd. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg. 2007 Aug;134(2):290-6.
-
McKellar SH, Tester DJ, Yagubyan M, Majumdar R, Ackerman MJ, Sundt TM, 3rd. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg. 2007 Aug;134(2):290-6.
-
-
-
-
42
-
-
52949141431
-
Genetic basis of thoracic aortic aneurysms and dissections: Focus on smooth muscle cell contractile dysfunction
-
Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet. 2008; 9: 283-302.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 283-302
-
-
Milewicz, D.M.1
Guo, D.C.2
Tran-Fadulu, V.3
Lafont, A.L.4
Papke, C.L.5
Inamoto, S.6
Kwartler, C.S.7
Pannu, H.8
-
43
-
-
0015504560
-
Life expectancy and causes of death in the Marfan syndrome
-
Murdoch JL, Walker BA, Halpern BL, Kruzma JW, McKusick. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med. 1972; 286: 804-8.
-
(1972)
N Engl J Med
, vol.286
, pp. 804-808
-
-
Murdoch, J.L.1
Walker, B.A.2
Halpern, B.L.3
Kruzma, J.W.4
McKusick5
-
44
-
-
0037373277
-
Dysregulation of TGFß activation contributes to pathogenesis in Marfan syndrome
-
Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC. Dysregulation of TGFß activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003; 33: 407-11.
-
(2003)
Nat Genet
, vol.33
, pp. 407-411
-
-
Neptune, E.R.1
Frischmeyer, P.A.2
Arking, D.E.3
Myers, L.4
Bunton, T.E.5
Gayraud, B.6
Ramirez, F.7
Sakai, L.Y.8
Dietz, H.C.9
-
45
-
-
15244363856
-
TGF-ß dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
-
Ng CM, Cheng A, Myers L, Martinez-Murillo F, Jie C, Bedja D, Gabrielson KL, Hausladen JM, Mecham RP, Judge DP, Dietz HC. TGF-ß dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest. 2004; 114: 1586-92.
-
(2004)
J Clin Invest
, vol.114
, pp. 1586-1592
-
-
Ng, C.M.1
Cheng, A.2
Myers, L.3
Martinez-Murillo, F.4
Jie, C.5
Bedja, D.6
Gabrielson, K.L.7
Hausladen, J.M.8
Mecham, R.P.9
Judge, D.P.10
Dietz, H.C.11
-
46
-
-
22044433881
-
The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: A 30-year experience
-
Jul;
-
Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, Kalra M, Sullivan T, Gloviczki P. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg. 2005 Jul; 42 (1): 98-106.
-
(2005)
J Vasc Surg
, vol.42
, Issue.1
, pp. 98-106
-
-
Oderich, G.S.1
Panneton, J.M.2
Bower, T.C.3
Lindor, N.M.4
Cherry, K.J.5
Noel, A.A.6
Kalra, M.7
Sullivan, T.8
Gloviczki, P.9
-
47
-
-
23044438103
-
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections
-
Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005; 112: 513-20.
-
(2005)
Circulation
, vol.112
, pp. 513-520
-
-
Pannu, H.1
Fadulu, V.T.2
Chang, J.3
Lafont, A.4
Hasham, S.N.5
Sparks, E.6
Giampietro, P.F.7
Zaleski, C.8
Estrera, A.L.9
Safi, H.J.10
Shete, S.11
Willing, M.C.12
Raman, C.S.13
Milewicz, D.M.14
-
48
-
-
34848825045
-
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II
-
Oct 15;
-
Pannu H, Tran-Fadulu V, Papke CL, Scherer S, Liu Y, Presley C, Guo D, Estrera AL, Safi HJ, Brasier AR, Vick GW, Marian AJ, Raman CS, Buja LM, Milewicz DM. MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet. 2007 Oct 15; 16 (20): 2453-62.
-
(2007)
Hum Mol Genet
, vol.16
, Issue.20
, pp. 2453-2462
-
-
Pannu, H.1
Tran-Fadulu, V.2
Papke, C.L.3
Scherer, S.4
Liu, Y.5
Presley, C.6
Guo, D.7
Estrera, A.L.8
Safi, H.J.9
Brasier, A.R.10
Vick, G.W.11
Marian, A.J.12
Raman, C.S.13
Buja, L.M.14
Milewicz, D.M.15
-
49
-
-
9244240256
-
The coexistence of acute aortic dissection with autosomal dominant polycystic kidney disease - description of two hypertensive patients
-
Peczkowska M, Januszewicz A, Grzeszczak Waa, Moczulski D, Janaszek-sitkowska H, Kabat M, Biederman A, Hendzel P, Prejbisz A, Cendrowska-Demkow I, Zielinski T, Januszewicz M. The coexistence of acute aortic dissection with autosomal dominant polycystic kidney disease - description of two hypertensive patients. Blood Pressure. 2004; 13 (5): 283-6.
-
(2004)
Blood Pressure
, vol.13
, Issue.5
, pp. 283-286
-
-
Peczkowska, M.1
Januszewicz, A.2
Waa, G.3
Moczulski, D.4
Janaszek-sitkowska, H.5
Kabat, M.6
Biederman, A.7
Hendzel, P.8
Prejbisz, A.9
Cendrowska-Demkow, I.10
Zielinski, T.11
Januszewicz, M.12
-
50
-
-
0034054910
-
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
-
Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med. 2000; 342: 673-80.
-
(2000)
N Engl J Med
, vol.342
, pp. 673-680
-
-
Pepin, M.1
Schwarze, U.2
Superti-Furga, A.3
Byers, P.H.4
-
51
-
-
33747144981
-
Aortic root dilatation is a rare complication of Noonan syndrome
-
Jul-Aug;
-
Power PD, Lewin MB, Hannibal MC, Glass IA. Aortic root dilatation is a rare complication of Noonan syndrome. Pediatr Cardiol. 2006 Jul-Aug; 27 (4): 478-80.
-
(2006)
Pediatr Cardiol
, vol.27
, Issue.4
, pp. 478-480
-
-
Power, P.D.1
Lewin, M.B.2
Hannibal, M.C.3
Glass, I.A.4
-
52
-
-
22544451258
-
Giant aneurysms of the sinuses of Valsalva and aortic regurgitation in a patient with Noonan's syndrome
-
Aug;
-
Purnell R, Williams I, Von Oppell U, Wood A. Giant aneurysms of the sinuses of Valsalva and aortic regurgitation in a patient with Noonan's syndrome. Eur J Cardiothorac Surg. 2005 Aug; 28 (2): 346-8.
-
(2005)
Eur J Cardiothorac Surg
, vol.28
, Issue.2
, pp. 346-348
-
-
Purnell, R.1
Williams, I.2
Von Oppell, U.3
Wood, A.4
-
53
-
-
19944363541
-
Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis
-
Jun 15;
-
Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, Konig R, Mitulla B, Muller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A. 2005 Jun 15; 135 (3): 251-62.
-
(2005)
Am J Med Genet A
, vol.135
, Issue.3
, pp. 251-262
-
-
Robinson, P.N.1
Neumann, L.M.2
Demuth, S.3
Enders, H.4
Jung, U.5
Konig, R.6
Mitulla, B.7
Muller, D.8
Muschke, P.9
Pfeiffer, L.10
Prager, B.11
Somer, M.12
Tinschert, S.13
-
54
-
-
33846462489
-
Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome
-
Jan;
-
Rybczynski M, Koschyk DH, Aydin MA, Robinson PN, Brinken T, Franzen O, Berger J, Hofmann T, Meinertz T, von Kodolitsch Y. Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome. Clin Cardiol. 2007 Jan; 30 (1): 19-24.
-
(2007)
Clin Cardiol
, vol.30
, Issue.1
, pp. 19-24
-
-
Rybczynski, M.1
Koschyk, D.H.2
Aydin, M.A.3
Robinson, P.N.4
Brinken, T.5
Franzen, O.6
Berger, J.7
Hofmann, T.8
Meinertz, T.9
von Kodolitsch, Y.10
-
55
-
-
57149088301
-
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome
-
Rybczynski M, Bernhardt AMJ, Rehder U, Fuisting B, Meiss L, Voss U, Habermann C, Detter C, Robinson PN, Arslan-Kirchner M, Schmidtke J, Mir TS, Berger J, Meinertz T, von Kodolitsch Y. The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet 2008; 146A: 3157-66.
-
(2008)
Am J Med Genet
, vol.146 A
, pp. 3157-3166
-
-
Rybczynski, M.1
Bernhardt, A.M.J.2
Rehder, U.3
Fuisting, B.4
Meiss, L.5
Voss, U.6
Habermann, C.7
Detter, C.8
Robinson, P.N.9
Arslan-Kirchner, M.10
Schmidtke, J.11
Mir, T.S.12
Berger, J.13
Meinertz, T.14
von Kodolitsch, Y.15
-
56
-
-
0030888741
-
Abnormal ambulatory electrocardiographic findings in patients with the Marfan syndrome
-
Savolainen A, Kupari M, Toivonen L, Kaitila I, Viitasalo M. Abnormal ambulatory electrocardiographic findings in patients with the Marfan syndrome. J Intern Med. 1997; 241: 221-6.
-
(1997)
J Intern Med
, vol.241
, pp. 221-226
-
-
Savolainen, A.1
Kupari, M.2
Toivonen, L.3
Kaitila, I.4
Viitasalo, M.5
-
57
-
-
19944432730
-
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
-
Jan 25;
-
Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64 (2): 254-62.
-
(2005)
Neurology
, vol.64
, Issue.2
, pp. 254-262
-
-
Sheen, V.L.1
Jansen, A.2
Chen, M.H.3
Parrini, E.4
Morgan, T.5
Ravenscroft, R.6
Ganesh, V.7
Underwood, T.8
Wiley, J.9
Leventer, R.10
Vaid, R.R.11
Ruiz, D.E.12
Hutchins, G.M.13
Menasha, J.14
Willner, J.15
Geng, Y.16
Gripp, K.W.17
Nicholson, L.18
Berry-Kravis, E.19
Bodell, A.20
Apse, K.21
Hill, R.S.22
Dubeau, F.23
Andermann, F.24
Barkovich, J.25
Andermann, E.26
Shugart, Y.Y.27
Thomas, P.28
Viri, M.29
Veggiotti, P.30
Robertson, S.31
Guerrini, R.32
Walsh, C.A.33
more..
-
58
-
-
39049174334
-
Periventricular heterotopia: New insights into Ehlers-Danlos syndrome
-
Nov;
-
Sheen VL, Walsh CA. Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. Clin Med Res. 2005 Nov; 3 (4): 229-33.
-
(2005)
Clin Med Res
, vol.3
, Issue.4
, pp. 229-233
-
-
Sheen, V.L.1
Walsh, C.A.2
-
59
-
-
0028296142
-
Progression of aortic dilatation and benefit of long-term ß-adrenergic blockade in Marfan's syndrome
-
Shores J, Berger KR, Murphy EA, Pyeritz RE. Progression of aortic dilatation and benefit of long-term ß-adrenergic blockade in Marfan's syndrome. N Engl J Med. 1994; 330: 1335-41.
-
(1994)
N Engl J Med
, vol.330
, pp. 1335-1341
-
-
Shores, J.1
Berger, K.R.2
Murphy, E.A.3
Pyeritz, R.E.4
-
60
-
-
0028854314
-
Life expectancy in the Marfan syndrome
-
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; 75: 157-60.
-
(1995)
Am J Cardiol
, vol.75
, pp. 157-160
-
-
Silverman, D.I.1
Burton, K.J.2
Gray, J.3
Bosner, M.S.4
Kouchoukos, N.T.5
Roman, M.J.6
Boxer, M.7
Devereux, R.B.8
Tsipouras, P.9
-
61
-
-
33749561387
-
Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome
-
Oct;
-
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.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, Issue.10
, pp. 3897-3902
-
-
Stochholm, K.1
Juul, S.2
Juel, K.3
Naeraa, R.W.4
Gravholt, C.H.5
-
62
-
-
0023944379
-
Ehlers-Danlos syndrome type IV: A multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen
-
May 5;
-
Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B. Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem. 1988 May 5; 263 (13): 6226-32.
-
(1988)
J Biol Chem
, vol.263
, Issue.13
, pp. 6226-6232
-
-
Superti-Furga, A.1
Gugler, E.2
Gitzelmann, R.3
Steinmann, B.4
-
63
-
-
0141519147
-
Relationship of aortic cross-sectional area to height ratio and the risk of aortic dissection in patients with bicuspid aortic valves
-
Sep;
-
Svensson LG, Kim KH, Lytle BW, Cosgrove DM. Relationship of aortic cross-sectional area to height ratio and the risk of aortic dissection in patients with bicuspid aortic valves. J Thorac Cardiovasc Surg. 2003 Sep; 126 (3): 892-3.
-
(2003)
J Thorac Cardiovasc Surg
, vol.126
, Issue.3
, pp. 892-893
-
-
Svensson, L.G.1
Kim, K.H.2
Lytle, B.W.3
Cosgrove, D.M.4
-
64
-
-
37049006992
-
-
Svensson LG, Kouchoukos NT, Miller DC, Bavaria JE, Coselli JS, Curi MA, Eggebrecht H, Elefteriades JA, Erbel R, Gleason TG, Lytle BW, Mitchell RS, Nienaber CA, Roselli EE, Safi HJ, Shemin RJ, Sicard GA, Sundt TM, 3rd, Szeto WY, Wheatley GH, 3rd. Expert consensus document on the treatment of descending thoracic aortic disease using endovascular stentgrafts. Ann Thorac Surg. 2008 Jan; 85 (1 Suppl): S1-41.
-
Svensson LG, Kouchoukos NT, Miller DC, Bavaria JE, Coselli JS, Curi MA, Eggebrecht H, Elefteriades JA, Erbel R, Gleason TG, Lytle BW, Mitchell RS, Nienaber CA, Roselli EE, Safi HJ, Shemin RJ, Sicard GA, Sundt TM, 3rd, Szeto WY, Wheatley GH, 3rd. Expert consensus document on the treatment of descending thoracic aortic disease using endovascular stentgrafts. Ann Thorac Surg. 2008 Jan; 85 (1 Suppl): S1-41.
-
-
-
-
65
-
-
33645125433
-
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
-
Mar;
-
Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, Puntel RA, Yin Loke K, Kirk RC, Urban Z. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet. 2006 Mar; 43 (3): 255-8.
-
(2006)
J Med Genet
, vol.43
, Issue.3
, pp. 255-258
-
-
Szabo, Z.1
Crepeau, M.W.2
Mitchell, A.L.3
Stephan, M.J.4
Puntel, R.A.5
Yin Loke, K.6
Kirk, R.C.7
Urban, Z.8
-
66
-
-
33847134400
-
Guidelines on the management of valvular heart disease: The Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology
-
Jan;
-
Vahanian A, Baumgartner H, Bax J, Butchart E, Dion R, Filippatos G, Flachskampf F, Hall R, Iung B, Kasprzak J, Nataf P, Tornos P, Torracca L, Wenink A. Guidelines on the management of valvular heart disease: The Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology. Eur Heart J. 2007 Jan; 28 (2): 230-68.
-
(2007)
Eur Heart J
, vol.28
, Issue.2
, pp. 230-268
-
-
Vahanian, A.1
Baumgartner, H.2
Bax, J.3
Butchart, E.4
Dion, R.5
Filippatos, G.6
Flachskampf, F.7
Hall, R.8
Iung, B.9
Kasprzak, J.10
Nataf, P.11
Tornos, P.12
Torracca, L.13
Wenink, A.14
-
67
-
-
0035933002
-
Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder
-
May 22;
-
Vaughan CJ, Casey M, He J, Veugelers M, Henderson K, Guo D, Campagna R, Roman MJ, Milewicz DM, Devereux RB, Basson CT. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation. 2001 May 22; 103 (20): 2469-75.
-
(2001)
Circulation
, vol.103
, Issue.20
, pp. 2469-2475
-
-
Vaughan, C.J.1
Casey, M.2
He, J.3
Veugelers, M.4
Henderson, K.5
Guo, D.6
Campagna, R.7
Roman, M.J.8
Milewicz, D.M.9
Devereux, R.B.10
Basson, C.T.11
-
68
-
-
0035191934
-
Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and Marfan: A questionnaire study
-
Verbraecken J, Declerck A, Van de Heyning P, De Backer W, Wouters EF. Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and Marfan: a questionnaire study. Clin Genet. 2001; 60 (5): 360-5.
-
(2001)
Clin Genet
, vol.60
, Issue.5
, pp. 360-365
-
-
Verbraecken, J.1
Declerck, A.2
Van de Heyning, P.3
De Backer, W.4
Wouters, E.F.5
-
69
-
-
0042632847
-
De Backe rW. Aortic root diameter and nasal intermittent positive airway pressure treatment in Marfan syndrome
-
Verbraecken J, Paelinck BP, Willemen M, Van de Heyning P, De Backe rW. Aortic root diameter and nasal intermittent positive airway pressure treatment in Marfan syndrome. Clin Genet. 2003;63 (2): 131-4.
-
(2003)
Clin Genet
, vol.63
, Issue.2
, pp. 131-134
-
-
Verbraecken, J.1
Paelinck, B.P.2
Willemen, M.3
Van de Heyning, P.4
-
70
-
-
77749293528
-
-
von Kodolitsch Y, Rybczynski M. Cardiovascular aspects of the Marfan syndrome - A systematic review. In: Marfan syndrome: a primer for clinicians and Scientists. 2004;Robinson PN, Godfrey M, editors. Eurekah.com and Kluwer Academic / Plenum Publishers (ISBN 0-306-48238-X):45-69.
-
von Kodolitsch Y, Rybczynski M. Cardiovascular aspects of the Marfan syndrome - A systematic review. In: Marfan syndrome: a primer for clinicians and Scientists. 2004;Robinson PN, Godfrey M, editors. Eurekah.com and Kluwer Academic / Plenum Publishers (ISBN 0-306-48238-X):45-69.
-
-
-
-
72
-
-
0031839923
-
The Marfan syndrome: Prevalence and natural history of cardiovascular manifestations
-
von Kodolitsch Y, Raghunath M, Nienaber CA. The Marfan syndrome: prevalence and natural history of cardiovascular manifestations. Z Kardiol. 1998; 87: 150-60.
-
(1998)
Z Kardiol
, vol.87
, pp. 150-160
-
-
von Kodolitsch, Y.1
Raghunath, M.2
Nienaber, C.A.3
-
73
-
-
9644264289
-
Three new families with arterial tortuosity syndrome
-
Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems P. Three new families with arterial tortuosity syndrome. Am J Med Genet A. 2004; 131: 134-43.
-
(2004)
Am J Med Genet A
, vol.131
, pp. 134-143
-
-
Wessels, M.W.1
Catsman-Berrevoets, C.E.2
Mancini, G.M.3
Breuning, M.H.4
Hoogeboom, J.J.5
Stroink, H.6
Frohn-Mulder, I.7
Coucke, P.J.8
Paepe, A.D.9
Niermeijer, M.F.10
Willems, P.11
-
74
-
-
0037438497
-
Long-term outcome in patients with Marfan syndrome: Is aortic dissection the only cause of sudden death?
-
Yetman AT, Bornemeier RA, McCrindle BW. Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? J Am Coll Cardiol. 2003; 41 (2): 329-32.
-
(2003)
J Am Coll Cardiol
, vol.41
, Issue.2
, pp. 329-332
-
-
Yetman, A.T.1
Bornemeier, R.A.2
McCrindle, B.W.3
-
75
-
-
17444380829
-
Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan syndrome
-
Yetman AT, Bornemeier RA, McCrindle BW. Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan syndrome. Am J Cardiol. 2005; 95: 1125-7.
-
(2005)
Am J Cardiol
, vol.95
, pp. 1125-1127
-
-
Yetman, A.T.1
Bornemeier, R.A.2
McCrindle, B.W.3
-
76
-
-
33644627494
-
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm / aortic dissection and patent ductus arteriosus
-
Mar;
-
Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm / aortic dissection and patent ductus arteriosus. Nat Genet. 2006 Mar; 38 (3): 343-9.
-
(2006)
Nat Genet
, vol.38
, Issue.3
, pp. 343-349
-
-
Zhu, L.1
Vranckx, R.2
Khau Van Kien, P.3
Lalande, A.4
Boisset, N.5
Mathieu, F.6
Wegman, M.7
Glancy, L.8
Gasc, J.M.9
Brunotte, F.10
Bruneval, P.11
Wolf, J.E.12
Michel, J.B.13
Jeunemaitre, X.14
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