-
1
-
-
79956330132
-
Lessons on the pathogenesis of aneurysm from heritable conditions
-
Lindsay ME, Dietz HC. Lessons on the pathogenesis of aneurysm from heritable conditions. Nature. 2011;473:308-316.
-
(2011)
Nature
, vol.473
, pp. 308-316
-
-
Lindsay, M.E.1
Dietz, H.C.2
-
3
-
-
39749164391
-
Thoracic aortic aneurysm: Reading the enemy's playbook
-
Elefteriades JA. Thoracic aortic aneurysm: reading the enemy's playbook. World J Surg. 2008;32:366-374.
-
(2008)
World J Surg
, vol.32
, pp. 366-374
-
-
Elefteriades, J.A.1
-
4
-
-
0034653158
-
Risk factors for abdominal aortic aneurysm: Results of a case-control study
-
Blanchard JF, Armenian HK, Friesen PP. Risk factors for abdominal aortic aneurysm: results of a case-control study. Am J Epidemiol. 2000;151:575-583.
-
(2000)
Am J Epidemiol
, vol.151
, pp. 575-583
-
-
Blanchard, J.F.1
Armenian, H.K.2
Friesen, P.P.3
-
5
-
-
0031055721
-
Prevalence and associations of abdominal aortic aneurysm detected through screening. Aneurysm Detection and Management (ADAM) Veterans Affairs Cooperative Study Group
-
Lederle FA, Johnson GR, Wilson SE, Chute EP, Littooy FN, Bandyk D, Krupski WC, Barone GW, Acher CW, Ballard DJ. Prevalence and associations of abdominal aortic aneurysm detected through screening. Aneurysm Detection and Management (ADAM) Veterans Affairs Cooperative Study Group. Ann Intern Med. 1997;126:441-449.
-
(1997)
Ann Intern Med
, vol.126
, pp. 441-449
-
-
Lederle, F.A.1
Johnson, G.R.2
Wilson, S.E.3
Chute, E.P.4
Littooy, F.N.5
Bandyk, D.6
Krupski, W.C.7
Barone, G.W.8
Acher, C.W.9
Ballard, D.J.10
-
6
-
-
72549087148
-
Genetic and environmental contributions to abdominal aortic aneurysm development in a twin population
-
discussion 7
-
Wahlgren CM, Larsson E, Magnusson PK, Hultgren R, Swedenborg J. Genetic and environmental contributions to abdominal aortic aneurysm development in a twin population. J Vasc Surg. 2010;51:3-7; discussion 7.
-
(2010)
J Vasc Surg
, vol.51
, pp. 3-7
-
-
Wahlgren, C.M.1
Larsson, E.2
Magnusson, P.K.3
Hultgren, R.4
Swedenborg, J.5
-
7
-
-
84947899513
-
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
-
Gretarsdottir S, Baas AF, Thorleifsson G, et al. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet. 2010;42:692-697.
-
(2010)
Nat Genet
, vol.42
, pp. 692-697
-
-
Gretarsdottir, S.1
Baas, A.F.2
Thorleifsson, G.3
-
8
-
-
84945173643
-
Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1
-
CARDIoGRAM Consortium; Global BPgen Consortium; DIAGRAM Consortium; VRCNZ Consortium
-
Bown MJ, Jones GT, Harrison SC, et al; CARDIoGRAM Consortium; Global BPgen Consortium; DIAGRAM Consortium; VRCNZ Consortium. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am J Hum Genet. 2011;89:619-627.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 619-627
-
-
Bown, M.J.1
Jones, G.T.2
Harrison, S.C.3
-
9
-
-
38649091662
-
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
-
Helgadottir A, Thorleifsson G, Magnusson KP, et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet. 2008;40:217-224.
-
(2008)
Nat Genet
, vol.40
, pp. 217-224
-
-
Helgadottir, A.1
Thorleifsson, G.2
Magnusson, K.P.3
-
10
-
-
73449113231
-
Association between the coronary artery disease risk locus on chromosome 9p21.3 and abdominal aortic aneurysm
-
Bown MJ, Braund PS, Thompson J, London NJM, Samani NJ, Sayers RD. Association between the coronary artery disease risk locus on chromosome 9p21.3 and abdominal aortic aneurysm. Circ Genetics. 2008; 1:39-42.
-
(2008)
Circ Genetics
, vol.1
, pp. 39-42
-
-
Bown, M.J.1
Braund, P.S.2
Thompson, J.3
London, N.J.M.4
Samani, N.J.5
Sayers, R.D.6
-
11
-
-
66149112940
-
Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association
-
Elmore JR, Obmann MA, Kuivaniemi H, Tromp G, Gerhard GS, Franklin DP, Boddy AM, Carey DJ. Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association. J Vasc Surg. 2009;49:1525-1531.
-
(2009)
J Vasc Surg
, vol.49
, pp. 1525-1531
-
-
Elmore, J.R.1
Obmann, M.A.2
Kuivaniemi, H.3
Tromp, G.4
Gerhard, G.S.5
Franklin, D.P.6
Boddy, A.M.7
Carey, D.J.8
-
13
-
-
84891514939
-
Interleukin-6 receptor pathways in abdominal aortic aneurysm
-
October 30. doi: 10.1093/eurheartj/ehs354. Accessed July 8, 2013
-
Harrison SC, Smith AJP, Jones GT, et al. Interleukin-6 receptor pathways in abdominal aortic aneurysm. Eur Heart J. October 30, 2012. doi: 10.1093/eurheartj/ehs354. http://eurheartj.oxfordjournals.org/content/early/ 2012/10/30/eurheartj.ehs354.long. Accessed July 8, 2013.
-
(2012)
Eur Heart J
-
-
Harrison, S.C.1
Smith, A.J.P.2
Jones, G.T.3
-
14
-
-
84880305065
-
A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm
-
Jones GT, Bown MJ, Gretarsdottir S, et al. A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm. Hum Mol Genet. 2013;22:2941-2947.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 2941-2947
-
-
Jones, G.T.1
Bown, M.J.2
Gretarsdottir, S.3
-
15
-
-
84865125773
-
Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism
-
Helgadottir A, Gretarsdottir S, Thorleifsson G, et al. Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism. J Am Coll Cardiol. 2012;60:722-729.
-
(2012)
J Am Coll Cardiol
, vol.60
, pp. 722-729
-
-
Helgadottir, A.1
Gretarsdottir, S.2
Thorleifsson, G.3
-
16
-
-
0030946538
-
Familial thoracic aortic dilatations and dissections: A case control study
-
Biddinger A, Rocklin M, Coselli J, Milewicz DM. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg. 1997;25:506-511.
-
(1997)
J Vasc Surg
, vol.25
, pp. 506-511
-
-
Biddinger, A.1
Rocklin, M.2
Coselli, J.3
Milewicz, D.M.4
-
17
-
-
33748752789
-
Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns
-
Albornoz G, Coady MA, Roberts M, Davies RR, Tranquilli M, Rizzo JA, Elefteriades JA. Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg. 2006;82:1400-1405.
-
(2006)
Ann Thorac Surg
, vol.82
, pp. 1400-1405
-
-
Albornoz, G.1
Coady, M.A.2
Roberts, M.3
Davies, R.R.4
Tranquilli, M.5
Rizzo, J.A.6
Elefteriades, J.A.7
-
18
-
-
80053320796
-
Medical therapy of thoracic aortic aneurysms: Are we there yet?
-
Danyi P, Elefteriades JA, Jovin IS. Medical therapy of thoracic aortic aneurysms: are we there yet? Circulation. 2011;124:1469-1476.
-
(2011)
Circulation
, vol.124
, pp. 1469-1476
-
-
Danyi, P.1
Elefteriades, J.A.2
Jovin, I.S.3
-
19
-
-
84870182593
-
Bicuspid aortic valve disease and ascending aortic aneurysms: Gaps in knowledge
-
Losenno KL, Goodman RL, Chu MW. Bicuspid aortic valve disease and ascending aortic aneurysms: gaps in knowledge. Cardiol Res Pract. 2012;2012:145202.
-
(2012)
Cardiol Res Pract
, vol.2012
, pp. 145202
-
-
Losenno, K.L.1
Goodman, R.L.2
Chu, M.W.3
-
20
-
-
0033608945
-
Mechanisms underlying aortic dilatation in congenital aortic valve malformation
-
Bonderman D, Gharehbaghi-Schnell E, Wollenek G, Maurer G, Baumgartner H, Lang IM. Mechanisms underlying aortic dilatation in congenital aortic valve malformation. Circulation. 1999;99:2138-2143.
-
(1999)
Circulation
, vol.99
, pp. 2138-2143
-
-
Bonderman, D.1
Gharehbaghi-Schnell, E.2
Wollenek, G.3
Maurer, G.4
Baumgartner, H.5
Lang, I.M.6
-
21
-
-
0036840603
-
Natural history of thoracic aortic aneurysms: Indications for surgery, and surgical versus nonsurgical risks
-
discussion S1892
-
Elefteriades JA. Natural history of thoracic aortic aneurysms: indications for surgery, and surgical versus nonsurgical risks. Ann Thorac Surg. 2002;74:S1877-S1880; discussion S1892.
-
(2002)
Ann Thorac Surg
, vol.74
-
-
Elefteriades, J.A.1
-
22
-
-
84875512980
-
Effects of aging and body size on proximal and ascending aorta and aortic arch: Inner edge-to-inner edge reference values in a large adult population by two-dimensional transthoracic echocardiography
-
Mirea O, Maffessanti F, Gripari P, Tamborini G, Muratori M, Fusini L, Claudia C, Fiorentini C, Plesea IE, Pepi M. Effects of aging and body size on proximal and ascending aorta and aortic arch: inner edge-to-inner edge reference values in a large adult population by two-dimensional transthoracic echocardiography. J Am Soc Echocardiogr. 2013;26:419-427.
-
(2013)
J Am Soc Echocardiogr
, vol.26
, pp. 419-427
-
-
Mirea, O.1
Maffessanti, F.2
Gripari, P.3
Tamborini, G.4
Muratori, M.5
Fusini, L.6
Claudia, C.7
Fiorentini, C.8
Plesea, I.E.9
Pepi, M.10
-
23
-
-
64549137250
-
Normal values for aortic diameters in children and adolescents-assessment in vivo by contrast-enhanced CMR-angiography
-
Kaiser T, Kellenberger CJ, Albisetti M, Bergsträsser E, Valsangiacomo Buechel ER. Normal values for aortic diameters in children and adolescents-assessment in vivo by contrast-enhanced CMR-angiography. J Cardiovasc Magn Reson. 2008;10:56.
-
(2008)
J Cardiovasc Magn Reson
, vol.10
, pp. 56
-
-
Kaiser, T.1
Kellenberger, C.J.2
Albisetti, M.3
Bergsträsser, E.4
Valsangiacomo Buechel, E.R.5
-
24
-
-
84866733874
-
Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age
-
Devereux RB, de Simone G, Arnett DK, Best LG, Boerwinkle E, Howard BV, Kitzman D, Lee ET, Mosley TH Jr, Weder A, Roman MJ. Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age. Am J Cardiol. 2012;110:1189-1194.
-
(2012)
Am J Cardiol
, vol.110
, pp. 1189-1194
-
-
Devereux, R.B.1
De Simone, G.2
Arnett, D.K.3
Best, L.G.4
Boerwinkle, E.5
Howard, B.V.6
Kitzman, D.7
Lee, E.T.8
Mosley Jr., T.H.9
Weder, A.10
Roman, M.J.11
-
25
-
-
79959524451
-
Cystic medial necrosis: Pathological findings and clinical implications
-
Yuan SM, Jing H. Cystic medial necrosis: pathological findings and clinical implications. Rev Bras Cir Cardiovasc. 2011;26:107-115.
-
(2011)
Rev Bras Cir Cardiovasc
, vol.26
, pp. 107-115
-
-
Yuan, S.M.1
Jing, H.2
-
26
-
-
0020264029
-
Thoracic aortic aneurysms: A populationbased study
-
Bickerstaff LK, Pairolero PC, Hollier LH, Melton LJ, Van Peenen HJ, Cherry KJ, Joyce JW, Lie JT. Thoracic aortic aneurysms: a populationbased study. Surgery. 1982;92:1103-1108.
-
(1982)
Surgery
, vol.92
, pp. 1103-1108
-
-
Bickerstaff, L.K.1
Pairolero, P.C.2
Hollier, L.H.3
Melton, L.J.4
Van Peenen, H.J.5
Cherry, K.J.6
Joyce, J.W.7
Lie, J.T.8
-
27
-
-
0032933957
-
Matrix metalloproteinases. Their role in degenerative chronic diseases of abdominal aorta
-
Palombo D, Maione M, Cifiello BI, Udini M, Maggio D, Lupo M. Matrix metalloproteinases. Their role in degenerative chronic diseases of abdominal aorta. J Cardiovasc Surg (Torino). 1999;40:257-260.
-
(1999)
J Cardiovasc Surg (Torino)
, vol.40
, pp. 257-260
-
-
Palombo, D.1
Maione, M.2
Cifiello, B.I.3
Udini, M.4
Maggio, D.5
Lupo, M.6
-
28
-
-
84879084860
-
Important role of the angiotensin II pathway in producing matrix metalloproteinase-9 in human thoracic aortic aneurysms
-
Nagasawa A, Yoshimura K, Suzuki R, Mikamo A, Yamashita O, Ikeda Y, Tsuchida M, Hamano K. Important role of the angiotensin II pathway in producing matrix metalloproteinase-9 in human thoracic aortic aneurysms. J Surg Res. 2013;183:472-477.
-
(2013)
J Surg Res
, vol.183
, pp. 472-477
-
-
Nagasawa, A.1
Yoshimura, K.2
Suzuki, R.3
Mikamo, A.4
Yamashita, O.5
Ikeda, Y.6
Tsuchida, M.7
Hamano, K.8
-
29
-
-
23944516039
-
The bicuspid aortic valve
-
Braverman AC, Güven H, Beardslee MA, Makan M, Kates AM, Moon MR. The bicuspid aortic valve. Curr Probl Cardiol. 2005;30:470-522.
-
(2005)
Curr Probl Cardiol
, vol.30
, pp. 470-522
-
-
Braverman, A.C.1
Güven, H.2
Beardslee, M.A.3
Makan, M.4
Kates, A.M.5
Moon, M.R.6
-
30
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352:337-339.
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, G.R.2
Pyeritz, R.E.3
Maslen, C.L.4
Sakai, L.Y.5
Corson, G.M.6
Puffenberger, E.G.7
Hamosh, A.8
Nanthakumar, E.J.9
Curristin, S.M.10
-
31
-
-
0018393854
-
The Marfan syndrome: Diagnosis and management
-
Pyeritz RE, McKusick VA. The Marfan syndrome: diagnosis and management. N Engl J Med. 1979;300:772-777.
-
(1979)
N Engl J Med
, vol.300
, pp. 772-777
-
-
Pyeritz, R.E.1
McKusick, V.A.2
-
32
-
-
3442886498
-
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
-
Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat. 2004;24:140-146.
-
(2004)
Hum Mutat
, vol.24
, pp. 140-146
-
-
Loeys, B.1
De Backer, J.2
Van Acker, P.3
Wettinck, K.4
Pals, G.5
Nuytinck, L.6
Coucke, P.7
De Paepe, A.8
-
33
-
-
0023917651
-
International nosology of heritable disorders of connective tissue, Berlin, 1986
-
Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, Hall JG, Hollister DW, Horton W, McKusick VA. 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
Finidori, G.4
Gedde-Dahl, T.5
Goodman, R.6
Hall, J.G.7
Hollister, D.W.8
Horton, W.9
McKusick, V.A.10
-
34
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417-426.
-
(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.4
Pyeritz, R.E.5
-
35
-
-
77956127537
-
The revised Ghent nosology for the Marfan syndrome
-
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;47:476-485.
-
(2010)
J Med Genet
, vol.47
, pp. 476-485
-
-
Loeys, B.L.1
Dietz, H.C.2
Braverman, A.C.3
Callewaert, B.L.4
De Backer, J.5
Devereux, R.B.6
Hilhorst-Hofstee, Y.7
Jondeau, G.8
Faivre, L.9
Milewicz, D.M.10
Pyeritz, R.E.11
Sponseller, P.D.12
Wordsworth, P.13
De Paepe, A.M.14
-
36
-
-
17144446828
-
Update of the UMDFBN1 mutation database and creation of an FBN1 polymorphism database
-
Collod-Béroud G, Le Bourdelles S, Ades L, et al. Update of the UMDFBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003;22:199-208.
-
(2003)
Hum Mutat
, vol.22
, pp. 199-208
-
-
Collod-Béroud, G.1
Le Bourdelles, S.2
Ades, L.3
-
37
-
-
80051699863
-
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
-
Baetens M, Van Laer L, De Leeneer K, Hellemans J, De Schrijver J, Van De Voorde H, Renard M, Dietz H, Lacro R V, Menten B, Van Criekinge W, De Backer J, De Paepe A, Loeys B, Coucke PJ. Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. Hum Genet. 2011; 32:1053-1062.
-
(2011)
Hum Genet
, vol.32
, pp. 1053-1062
-
-
Baetens, M.1
Van Laer, L.2
De Leeneer, K.3
Hellemans, J.4
De Schrijver, J.5
Van De Voorde, H.6
Renard, M.7
Dietz, H.8
Lacro, R.V.9
Menten, B.10
Van Criekinge, W.11
De Backer, J.12
De Paepe, A.13
Loeys, B.14
Coucke, P.J.15
-
38
-
-
0030954731
-
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations
-
Hayward C, Porteous ME, Brock DJ. Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations. Hum Mutat. 1997;10:280-289.
-
(1997)
Hum Mutat
, vol.10
, pp. 280-289
-
-
Hayward, C.1
Porteous, M.E.2
Brock, D.J.3
-
39
-
-
0030894202
-
Immunohistochemical abnormalities of fibrillin in cardiovascular tissues in Marfan's syndrome
-
Fleischer KJ, Nousari HC, Anhalt GJ, Stone CD, Laschinger JC. Immunohistochemical abnormalities of fibrillin in cardiovascular tissues in Marfan's syndrome. Ann Thorac Surg. 1997;63:1012-1017.
-
(1997)
Ann Thorac Surg
, vol.63
, pp. 1012-1017
-
-
Fleischer, K.J.1
Nousari, H.C.2
Anhalt, G.J.3
Stone, C.D.4
Laschinger, J.C.5
-
40
-
-
0031252407
-
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome
-
Pereira L, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Biery NJ, Bunton T, Dietz HC, Ramirez F. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet. 1997;17:218-222.
-
(1997)
Nat Genet
, vol.17
, pp. 218-222
-
-
Pereira, L.1
Andrikopoulos, K.2
Tian, J.3
Lee, S.Y.4
Keene, D.R.5
Ono, R.6
Reinhardt, D.P.7
Sakai, L.Y.8
Biery, N.J.9
Bunton, T.10
Dietz, H.C.11
Ramirez, F.12
-
41
-
-
0037373277
-
Dysregulation of TGF-beta 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 TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003;33:407-411.
-
(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
-
42
-
-
0028885716
-
Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein
-
Dallas SL, Miyazono K, Skerry TM, Mundy GR, Bonewald LF. Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein. J Cell Biol. 1995;131:539-549.
-
(1995)
J Cell Biol
, vol.131
, pp. 539-549
-
-
Dallas, S.L.1
Miyazono, K.2
Skerry, T.M.3
Mundy, G.R.4
Bonewald, L.F.5
-
43
-
-
0033982504
-
Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo
-
Dallas SL, Keene DR, Bruder SP, Saharinen J, Sakai LY, Mundy GR, Bonewald LF. Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo. J Bone Miner Res. 2000;15:68-81.
-
(2000)
J Bone Miner Res
, vol.15
, pp. 68-81
-
-
Dallas, S.L.1
Keene, D.R.2
Bruder, S.P.3
Saharinen, J.4
Sakai, L.Y.5
Mundy, G.R.6
Bonewald, L.F.7
-
44
-
-
0037462678
-
Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein
-
Isogai Z, Ono RN, Ushiro S, Keene DR, Chen Y, Mazzieri R, Charbonneau NL, Reinhardt DP, Rifkin DB, Sakai LY. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem. 2003;278:2750-2757.
-
(2003)
J Biol Chem
, vol.278
, pp. 2750-2757
-
-
Isogai, Z.1
Ono, R.N.2
Ushiro, S.3
Keene, D.R.4
Chen, Y.5
Mazzieri, R.6
Charbonneau, N.L.7
Reinhardt, D.P.8
Rifkin, D.B.9
Sakai, L.Y.10
-
45
-
-
15244363856
-
TGFbeta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
-
Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, Gabrielson KL, Hausladen JM, Mecham RP, Judge DP, Dietz HC. TGFbeta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest. 2004;114:1586-1592.
-
(2004)
J Clin Invest
, vol.114
, pp. 1586-1592
-
-
Ng, C.M.1
Cheng, A.2
Myers, L.A.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
-
-
33645672459
-
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
-
Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312:117-121.
-
(2006)
Science
, vol.312
, pp. 117-121
-
-
Habashi, J.P.1
Judge, D.P.2
Holm, T.M.3
-
47
-
-
79954625123
-
Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice
-
Holm TM, Habashi JP, Doyle JJ, Bedja D, Chen Y, van Erp C, Lindsay ME, Kim D, Schoenhoff F, Cohn RD, Loeys BL, Thomas CJ, Patnaik S, Marugan JJ, Judge DP, Dietz HC. Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science. 2011;332:358-361.
-
(2011)
Science
, vol.332
, pp. 358-361
-
-
Holm, T.M.1
Habashi, J.P.2
Doyle, J.J.3
Bedja, D.4
Chen, Y.5
Van Erp, C.6
Lindsay, M.E.7
Kim, D.8
Schoenhoff, F.9
Cohn, R.D.10
Loeys, B.L.11
Thomas, C.J.12
Patnaik, S.13
Marugan, J.J.14
Judge, D.P.15
Dietz, H.C.16
-
48
-
-
0037238770
-
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
-
Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003;40:34-36.
-
(2003)
J Med Genet
, vol.40
, pp. 34-36
-
-
Faivre, L.1
Gorlin, R.J.2
Wirtz, M.K.3
Godfrey, M.4
Dagoneau, N.5
Samples, J.R.6
Le Merrer, M.7
Collod-Beroud, G.8
Boileau, C.9
Munnich, A.10
Cormier-Daire, V.11
-
49
-
-
77952974791
-
Mutations in fibrillin-1 cause congenital scleroderma: Stiff skin syndrome
-
Loeys BL, Gerber EE, Riegert-Johnson D, et al. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010;2:23ra20.
-
(2010)
Sci Transl Med
, vol.2
-
-
Loeys, B.L.1
Gerber, E.E.2
Riegert-Johnson, D.3
-
50
-
-
80051549516
-
Mutations in the TGFβ bindingprotein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
-
Le Goff C, Mahaut C, Wang LW, et al. Mutations in the TGFβ bindingprotein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011;89:7-14.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 7-14
-
-
Le Goff, C.1
Mahaut, C.2
Wang, L.W.3
-
51
-
-
0028828221
-
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly
-
Putnam EA, Zhang H, Ramirez F, Milewicz DM. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet. 1995;11:456-458.
-
(1995)
Nat Genet
, vol.11
, pp. 456-458
-
-
Putnam, E.A.1
Zhang, H.2
Ramirez, F.3
Milewicz, D.M.4
-
52
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
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.
-
(2005)
Nat Genet
, vol.37
, pp. 275-281
-
-
Loeys, B.L.1
Chen, J.2
Neptune, E.R.3
-
53
-
-
79251602475
-
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
-
Van de Laar IM, Oldenburg RA, Pals G et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet. 2011;43:121-126.
-
(2011)
Nat Genet
, vol.43
, pp. 121-126
-
-
Van De Laar, I.M.1
Oldenburg, R.A.2
Pals, G.3
-
54
-
-
84864415173
-
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
-
Lindsay ME, Schepers D, Bolar NA, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet. 2012;44:922-927.
-
(2012)
Nat Genet
, vol.44
, pp. 922-927
-
-
Lindsay, M.E.1
Schepers, D.2
Bolar, N.A.3
-
55
-
-
84868200856
-
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
-
Doyle AJ, Doyle JJ, Bessling SL, et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012;44:1249-1254.
-
(2012)
Nat Genet
, vol.44
, pp. 1249-1254
-
-
Doyle, A.J.1
Doyle, J.J.2
Bessling, S.L.3
-
56
-
-
33646896247
-
Fibulin-4: A novel gene for an autosomal recessive cutis laxa syndrome
-
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;78:1075-1080.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 1075-1080
-
-
Hucthagowder, V.1
Sausgruber, N.2
Kim, K.H.3
Angle, B.4
Marmorstein, L.Y.5
Urban, Z.6
-
57
-
-
0033534618
-
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
-
Zhang MC, He L, Giro M, Yong SL, Tiller GE, Davidson JM. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem. 1999;274:981-986.
-
(1999)
J Biol Chem
, vol.274
, pp. 981-986
-
-
Zhang, M.C.1
He, L.2
Giro, M.3
Yong, S.L.4
Tiller, G.E.5
Davidson, J.M.6
-
58
-
-
0031833314
-
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa
-
Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, Wilmot C, Donnai D, Read AP, Jones CJ. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet. 1998;7:1021-1028.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1021-1028
-
-
Tassabehji, M.1
Metcalfe, K.2
Hurst, J.3
Ashcroft, G.S.4
Kielty, C.5
Wilmot, C.6
Donnai, D.7
Read, A.P.8
Jones, C.J.9
-
59
-
-
0028294413
-
Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene
-
Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest. 1994;93:1071-1077.
-
(1994)
J Clin Invest
, vol.93
, pp. 1071-1077
-
-
Ewart, A.K.1
Jin, W.2
Atkinson, D.3
Morris, C.A.4
Keating, M.T.5
-
60
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993;5:11-16.
-
(1993)
Nat Genet
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Jin, W.4
Sternes, K.5
Spallone, P.6
Stock, A.D.7
Leppert, M.8
Keating, M.T.9
-
61
-
-
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 Genet. 2006;38:452-457.
-
(2006)
Nat Genet
, vol.38
, pp. 452-457
-
-
Coucke, P.J.1
Willaert, A.2
Wessels, M.W.3
-
62
-
-
0024348458
-
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV
-
Superti-Furga A, Steinmann B, Ramirez F, Byers PH. Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. Hum Genet. 1989;82:104-108.
-
(1989)
Hum Genet
, vol.82
, pp. 104-108
-
-
Superti-Furga, A.1
Steinmann, B.2
Ramirez, F.3
Byers, P.H.4
-
63
-
-
0021924192
-
Diminished type i collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta
-
Rowe DW, Shapiro JR, Poirier M, Schlesinger S. Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta. J Clin Invest. 1985;76:604-611.
-
(1985)
J Clin Invest
, vol.76
, pp. 604-611
-
-
Rowe, D.W.1
Shapiro, J.R.2
Poirier, M.3
Schlesinger, S.4
-
64
-
-
2342638980
-
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway
-
Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet. 2004;74:917-930.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 917-930
-
-
Schwarze, U.1
Hata, R.2
McKusick, V.A.3
Shinkai, H.4
Hoyme, H.E.5
Pyeritz, R.E.6
Byers, P.H.7
-
65
-
-
0024446126
-
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII
-
Weil D, D'Alessio M, Ramirez F, de Wet W, Cole WG, Chan D, Bateman JF. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. EMBO J. 1989;8:1705-1710.
-
(1989)
EMBO J
, vol.8
, pp. 1705-1710
-
-
Weil, D.1
D'Alessio, M.2
Ramirez, F.3
De Wet, W.4
Cole, W.G.5
Chan, D.6
Bateman, J.F.7
-
66
-
-
0027535453
-
A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings
-
Hautala T, Heikkinen J, Kivirikko KI, Myllylä R. A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics. 1993;15:399-404.
-
(1993)
Genomics
, vol.15
, pp. 399-404
-
-
Hautala, T.1
Heikkinen, J.2
Kivirikko, K.I.3
Myllylä, R.4
-
67
-
-
0032422555
-
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
-
Fox JW, Lamperti ED, Ekşiog̈lu 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;21:1315-1325.
-
(1998)
Neuron
, vol.21
, pp. 1315-1325
-
-
Fox, J.W.1
Lamperti, E.D.2
Ekşiog̈lu, 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
-
68
-
-
36549071997
-
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
-
Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007;39:1488-1493.
-
(2007)
Nat Genet
, vol.39
, pp. 1488-1493
-
-
Guo, D.C.1
Pannu, H.2
Tran-Fadulu, V.3
-
69
-
-
33644627494
-
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
-
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;38:343-349.
-
(2006)
Nat Genet
, vol.38
, 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
-
70
-
-
78249244459
-
Mutations in myosin light chain kinase cause familial aortic dissections
-
Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM. Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet. 2010;87:701-707.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 701-707
-
-
Wang, L.1
Guo, D.C.2
Cao, J.3
Gong, L.4
Kamm, K.E.5
Regalado, E.6
Li, L.7
Shete, S.8
He, W.Q.9
Zhu, M.S.10
Offermanns, S.11
Gilchrist, D.12
Elefteriades, J.13
Stull, J.T.14
Milewicz, D.M.15
-
71
-
-
24644467759
-
Mutations in NOTCH1 cause aortic valve disease
-
Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D. Mutations in NOTCH1 cause aortic valve disease. Nature. 2005;437:270-274.
-
(2005)
Nature
, vol.437
, pp. 270-274
-
-
Garg, V.1
Muth, A.N.2
Ransom, J.F.3
Schluterman, M.K.4
Barnes, R.5
King, I.N.6
Grossfeld, P.D.7
Srivastava, D.8
-
72
-
-
78049287216
-
The Loeys-Dietz syndrome: An update for the clinician
-
Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol. 2010;25:546-551.
-
(2010)
Curr Opin Cardiol
, vol.25
, pp. 546-551
-
-
Van Hemelrijk, C.1
Renard, M.2
Loeys, B.3
-
73
-
-
79960342409
-
Association of intracranial aneurysm and Loeys-Dietz syndrome: Case illustration, management, and literature review
-
discussion E492-E493
-
Rahme RJ, Adel JG, Bendok BR, Bebawy JF, Gupta DK, Batjer HH. Association of intracranial aneurysm and Loeys-Dietz syndrome: case illustration, management, and literature review. Neurosurgery. 2011; 69:E488-E492; discussion E492-E493.
-
(2011)
Neurosurgery
, vol.69
-
-
Rahme, R.J.1
Adel, J.G.2
Bendok, B.R.3
Bebawy, J.F.4
Gupta, D.K.5
Batjer, H.H.6
-
74
-
-
33747030405
-
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome
-
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;27:770-777.
-
(2006)
Hum Mutat
, vol.27
, pp. 770-777
-
-
Singh, K.K.1
Rommel, K.2
Mishra, A.3
Karck, M.4
Haverich, A.5
Schmidtke, J.6
Arslan-Kirchner, M.7
-
75
-
-
3543013177
-
Heterozygous TGFBR2 mutations in Marfan syndrome
-
Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004;36:855-860.
-
(2004)
Nat Genet
, vol.36
, pp. 855-860
-
-
Mizuguchi, T.1
Collod-Beroud, G.2
Akiyama, T.3
-
76
-
-
0042876796
-
Transforming growth factor beta in cardiovascular development and function
-
Azhar M, Schultz Jel J, Grupp I, Dorn GW 2nd, Meneton P, Molin DG, Gittenberger-de Groot AC, Doetschman T. Transforming growth factor beta in cardiovascular development and function. Cytokine Growth Factor Rev. 2003;14:391-407.
-
(2003)
Cytokine Growth Factor Rev
, vol.14
, pp. 391-407
-
-
Azhar, M.1
Schultz Jel, J.2
Grupp, I.3
Dorn, I.I.G.W.4
Meneton, P.5
Molin, D.G.6
Gittenberger-De Groot, A.C.7
Doetschman, T.8
-
77
-
-
0030609894
-
TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes
-
Sanford LP, Ormsby I, Gittenberger-de Groot AC, Sariola H, Friedman R, Boivin GP, Cardell EL, Doetschman T. TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes. Development. 1997;124:2659-2670.
-
(1997)
Development
, vol.124
, pp. 2659-2670
-
-
Sanford, L.P.1
Ormsby, I.2
Gittenberger-De Groot, A.C.3
Sariola, H.4
Friedman, R.5
Boivin, G.P.6
Cardell, E.L.7
Doetschman, T.8
-
78
-
-
0242719725
-
Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects
-
Ito Y, Yeo JY, Chytil A, Han J, Bringas P Jr, Nakajima A, Shuler CF, Moses HL, Chai Y. Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects. Development. 2003;130:5269-5280.
-
(2003)
Development
, vol.130
, pp. 5269-5280
-
-
Ito, Y.1
Yeo, J.Y.2
Chytil, A.3
Han, J.4
Bringas Jr., P.5
Nakajima, A.6
Shuler, C.F.7
Moses, H.L.8
Chai, Y.9
-
79
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-beta receptor
-
Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355:788-798.
-
(2006)
N Engl J Med
, vol.355
, pp. 788-798
-
-
Loeys, B.L.1
Schwarze, U.2
Holm, T.3
-
80
-
-
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;112:513-520.
-
(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
-
81
-
-
84864411184
-
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
-
National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project
-
Boileau C, Guo DC, Hanna N, et al; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet. 2012;44:916-921.
-
(2012)
Nat Genet
, vol.44
, pp. 916-921
-
-
Boileau, C.1
Guo, D.C.2
Hanna, N.3
-
82
-
-
80052584397
-
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
-
NHLBI GO Exome Sequencing Project
-
Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA, Milewicz DM; NHLBI GO Exome Sequencing Project. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res. 2011;109:680-686.
-
(2011)
Circ Res
, vol.109
, pp. 680-686
-
-
Regalado, E.S.1
Guo, D.C.2
Villamizar, C.3
Avidan, N.4
Gilchrist, D.5
McGillivray, B.6
Clarke, L.7
Bernier, F.8
Santos-Cortez, R.L.9
Leal, S.M.10
Bertoli-Avella, A.M.11
Shendure, J.12
Rieder, M.J.13
Nickerson, D.A.14
Milewicz, D.M.15
-
83
-
-
0031438047
-
TGF-beta signalling from cell membrane to nucleus through SMAD proteins
-
Heldin CH, Miyazono K, ten Dijke P. TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature. 1997;390:465-471.
-
(1997)
Nature
, vol.390
, pp. 465-471
-
-
Heldin, C.H.1
Miyazono, K.2
Ten Dijke, P.3
-
84
-
-
34047148354
-
The role of TGF-beta signaling in myocardial infarction and cardiac remodeling
-
Bujak M, Frangogiannis NG. The role of TGF-beta signaling in myocardial infarction and cardiac remodeling. Cardiovasc Res. 2007;74:184-195.
-
(2007)
Cardiovasc Res
, vol.74
, pp. 184-195
-
-
Bujak, M.1
Frangogiannis, N.G.2
-
85
-
-
0020422246
-
A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias
-
Shprintzen RJ, Goldberg RB. A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. J Craniofac Genet Dev Biol. 1982;2:65-74.
-
(1982)
J Craniofac Genet Dev Biol
, vol.2
, pp. 65-74
-
-
Shprintzen, R.J.1
Goldberg, R.B.2
-
86
-
-
19944363541
-
Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis
-
Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Hum Genet. 2005;135:251-62.
-
(2005)
Am J Hum Genet
, vol.135
, pp. 251-262
-
-
Robinson, P.N.1
Neumann, L.M.2
Demuth, S.3
Enders, H.4
Jung, U.5
König, R.6
Mitulla, B.7
Müller, D.8
Muschke, P.9
Pfeiffer, L.10
Prager, B.11
Somer, M.12
Tinschert, S.13
-
87
-
-
84868498164
-
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
-
Carmignac V, Thevenon J, Adès L, et al. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet. 2012;91:950-957.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 950-957
-
-
Carmignac, V.1
Thevenon, J.2
Adès, L.3
-
88
-
-
77954957709
-
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type i caused by fibulin-4 deficiency
-
Renard M, Holm T, Veith R, et al. Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet. 2010;18:895-901.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 895-901
-
-
Renard, M.1
Holm, T.2
Veith, R.3
-
89
-
-
77956911290
-
Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta
-
Massam-Wu T, Chiu M, Choudhury R, Chaudhry SS, Baldwin AK, McGovern A, Baldock C, Shuttleworth CA, Kielty CM. Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta. J Cell Sci. 2010;123:3006-3018.
-
(2010)
J Cell Sci
, vol.123
, pp. 3006-3018
-
-
Massam-Wu, T.1
Chiu, M.2
Choudhury, R.3
Chaudhry, S.S.4
Baldwin, A.K.5
McGovern, A.6
Baldock, C.7
Shuttleworth, C.A.8
Kielty, C.M.9
-
90
-
-
73149111728
-
Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase
-
Horiguchi M, Inoue T, Ohbayashi T, Hirai M, Noda K, Marmorstein LY, Yabe D, Takagi K, Akama TO, Kita T, Kimura T, Nakamura T. Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase. Proc Natl Acad Sci U S A. 2009;106:19029-19034.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 19029-19034
-
-
Horiguchi, M.1
Inoue, T.2
Ohbayashi, T.3
Hirai, M.4
Noda, K.5
Marmorstein, L.Y.6
Yabe, D.7
Takagi, K.8
Akama, T.O.9
Kita, T.10
Kimura, T.11
Nakamura, T.12
-
91
-
-
84863229358
-
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling
-
Willaert A, Khatri S, Callewaert BL, Coucke PJ, Crosby SD, Lee JG, Davis EC, Shiva S, Tsang M, De Paepe A, Urban Z. GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling. Hum Mol Genet. 2012;21:1248-1259.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 1248-1259
-
-
Willaert, A.1
Khatri, S.2
Callewaert, B.L.3
Coucke, P.J.4
Crosby, S.D.5
Lee, J.G.6
Davis, E.C.7
Shiva, S.8
Tsang, M.9
De Paepe, A.10
Urban, Z.11
-
92
-
-
61649103114
-
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature
-
Callewaert BL, Loeys BL, Ficcadenti A, et al. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat. 2009;30:334-341.
-
(2009)
Hum Mutat
, vol.30
, pp. 334-341
-
-
Callewaert, B.L.1
Loeys, B.L.2
Ficcadenti, A.3
-
93
-
-
80054687808
-
Contemporary management of vascular Ehlers-Danlos syndrome
-
Lum YW, Brooke BS, Black JH 3rd. Contemporary management of vascular Ehlers-Danlos syndrome. Curr Opin Cardiol. 2011;26:494-501.
-
(2011)
Curr Opin Cardiol
, vol.26
, pp. 494-501
-
-
Lum, Y.W.1
Brooke, B.S.2
Black III, J.H.3
-
94
-
-
78049528435
-
Celiprolol therapy for vascular Ehlers-Danlos syndrome
-
Brooke BS. Celiprolol therapy for vascular Ehlers-Danlos syndrome. Lancet. 2010;376:1443-1444.
-
(2010)
Lancet
, vol.376
, pp. 1443-1444
-
-
Brooke, B.S.1
-
95
-
-
78049527006
-
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: A prospective randomised, open, blinded-endpoints trial
-
Ong KT, Perdu J, De Backer J, et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet. 2010;376:1476-1484.
-
(2010)
Lancet
, vol.376
, pp. 1476-1484
-
-
Ong, K.T.1
Perdu, J.2
De Backer, J.3
-
96
-
-
72449194274
-
Biogenesis and function of fibrillin assemblies
-
Ramirez F, Sakai LY. Biogenesis and function of fibrillin assemblies. Cell Tissue Res. 2010;339:71-82.
-
(2010)
Cell Tissue Res
, vol.339
, pp. 71-82
-
-
Ramirez, F.1
Sakai, L.Y.2
-
97
-
-
34047204759
-
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood
-
Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat. 2007;28:387-395.
-
(2007)
Hum Mutat
, vol.28
, pp. 387-395
-
-
Malfait, F.1
Symoens, S.2
De Backer, J.3
Hermanns-Lê, T.4
Sakalihasan, N.5
Lapière, C.M.6
Coucke, P.7
De Paepe, A.8
-
98
-
-
0033812976
-
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI
-
Yeowell HN, Walker LC. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. Mol Genet Metab. 2000;71:212-224.
-
(2000)
Mol Genet Metab
, vol.71
, pp. 212-224
-
-
Yeowell, H.N.1
Walker, L.C.2
-
99
-
-
30144445463
-
Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes
-
McDonnell NB, Gorman BL, Mandel KW, Schurman SH, Assanah-Carroll A, Mayer SA, Najjar SS, Francomano CA. Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. Am J Med Genet A. 2006;140:129-136.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 129-136
-
-
McDonnell, N.B.1
Gorman, B.L.2
Mandel, K.W.3
Schurman, S.H.4
Assanah-Carroll, A.5
Mayer, S.A.6
Najjar, S.S.7
Francomano, C.A.8
-
100
-
-
36849063186
-
Structural basis of filamin A functions
-
Nakamura F, Osborn TM, Hartemink CA, Hartwig JH, Stossel TP. Structural basis of filamin A functions. J Cell Biol. 2007;179:1011-1025.
-
(2007)
J Cell Biol
, vol.179
, pp. 1011-1025
-
-
Nakamura, F.1
Osborn, T.M.2
Hartemink, C.A.3
Hartwig, J.H.4
Stossel, T.P.5
-
102
-
-
18344385476
-
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
-
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001;29:465-468.
-
(2001)
Nat Genet
, vol.29
, pp. 465-468
-
-
Tartaglia, M.1
Mehler, E.L.2
Goldberg, R.3
Zampino, G.4
Brunner, H.G.5
Kremer, H.6
Van Der Burgt, I.7
Crosby, A.H.8
Ion, A.9
Jeffery, S.10
Kalidas, K.11
Patton, M.A.12
Kucherlapati, R.S.13
Gelb, B.D.14
-
103
-
-
0036074033
-
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
-
Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet. 2002;71:389-394.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 389-394
-
-
Digilio, M.C.1
Conti, E.2
Sarkozy, A.3
Mingarelli, R.4
Dottorini, T.5
Marino, B.6
Pizzuti, A.7
Dallapiccola, B.8
-
104
-
-
0025297599
-
Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
-
Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science. 1990;249:181-186.
-
(1990)
Science
, vol.249
, pp. 181-186
-
-
Wallace, M.R.1
Marchuk, D.A.2
Andersen, L.B.3
Letcher, R.4
Odeh, H.M.5
Saulino, A.M.6
Fountain, J.W.7
Brereton, A.8
Nicholson, J.9
Mitchell, A.L.10
-
105
-
-
0030914459
-
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
-
Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet. 1997;16:235-242.
-
(1997)
Nat Genet
, vol.16
, pp. 235-242
-
-
Oda, T.1
Elkahloun, A.G.2
Pike, B.L.3
Okajima, K.4
Krantz, I.D.5
Genin, A.6
Piccoli, D.A.7
Meltzer, P.S.8
Spinner, N.B.9
Collins, F.S.10
Chandrasekharappa, S.C.11
-
106
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet. 1997;16:243-251.
-
(1997)
Nat Genet
, vol.16
, pp. 243-251
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
-
107
-
-
0028171579
-
Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
-
McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994;8:345-351.
-
(1994)
Nat Genet
, vol.8
, pp. 345-351
-
-
McAllister, K.A.1
Grogg, K.M.2
Johnson, D.W.3
Gallione, C.J.4
Baldwin, M.A.5
Jackson, C.E.6
Helmbold, E.A.7
Markel, D.S.8
McKinnon, W.C.9
Murrell, J.10
-
108
-
-
0030050973
-
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
-
Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996;13:189-195.
-
(1996)
Nat Genet
, vol.13
, pp. 189-195
-
-
Johnson, D.W.1
Berg, J.N.2
Baldwin, M.A.3
-
109
-
-
84655163944
-
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
-
Le Goff C, Mahaut C, Abhyankar A, et al. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet. 2012;44:85-88.
-
(2012)
Nat Genet
, vol.44
, pp. 85-88
-
-
Le Goff, C.1
Mahaut, C.2
Abhyankar, A.3
-
110
-
-
84871708823
-
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations
-
Teekakirikul P, Milewicz DM, Miller DT, Lacro RV, Regalado ES, Rosales AM, Ryan DP, Toler TL, Lin AE. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A. 2013;161A:185-191.
-
(2013)
Am J Med Genet A
, vol.161 A
, pp. 185-191
-
-
Teekakirikul, P.1
Milewicz, D.M.2
Miller, D.T.3
Lacro, R.V.4
Regalado, E.S.5
Rosales, A.M.6
Ryan, D.P.7
Toler, T.L.8
Lin, A.E.9
-
111
-
-
12144286738
-
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)
-
Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet. 2004;363:852-859.
-
(2004)
Lancet
, vol.363
, pp. 852-859
-
-
Gallione, C.J.1
Repetto, G.M.2
Legius, E.3
Rustgi, A.K.4
Schelley, S.L.5
Tejpar, S.6
Mitchell, G.7
Drouin, E.8
Westermann, C.J.9
Marchuk, D.A.10
-
112
-
-
0024336576
-
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis
-
Marini JC, Grange DK, Gottesman GS, Lewis MB, Koeplin DA. Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. J Biol Chem. 1989;264:11893-11900.
-
(1989)
J Biol Chem
, vol.264
, pp. 11893-11900
-
-
Marini, J.C.1
Grange, D.K.2
Gottesman, G.S.3
Lewis, M.B.4
Koeplin, D.A.5
-
113
-
-
0024421465
-
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type i collagen determines the clinical phenotype
-
Starman BJ, Eyre D, Charbonneau H, Harrylock M, Weis MA, Weiss L, Graham JM Jr, Byers PH. Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. J Clin Invest. 1989;84:1206-1214.
-
(1989)
J Clin Invest
, vol.84
, pp. 1206-1214
-
-
Starman, B.J.1
Eyre, D.2
Charbonneau, H.3
Harrylock, M.4
Weis, M.A.5
Weiss, L.6
Graham Jr., J.M.7
Byers, P.H.8
-
115
-
-
37549015654
-
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
-
Plaisier E, Gribouval O, Alamowitch S, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med. 2007;357:2687-2695.
-
(2007)
N Engl J Med
, vol.357
, pp. 2687-2695
-
-
Plaisier, E.1
Gribouval, O.2
Alamowitch, S.3
-
116
-
-
0028069132
-
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome
-
Lemmink HH, Mochizuki T, van den Heuvel LP, Schröder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet. 1994;3:1269-1273.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1269-1273
-
-
Lemmink, H.H.1
Mochizuki, T.2
Van Den Heuvel, L.P.3
Schröder, C.H.4
Barrientos, A.5
Monnens, L.A.6
Van Oost, B.A.7
Brunner, H.G.8
Reeders, S.T.9
Smeets, H.J.10
-
117
-
-
0028939722
-
Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution
-
Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C. Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int. 1995;47:1142-1147.
-
(1995)
Kidney Int
, vol.47
, pp. 1142-1147
-
-
Gubler, M.C.1
Knebelmann, B.2
Beziau, A.3
Broyer, M.4
Pirson, Y.5
Haddoum, F.6
Kleppel, M.M.7
Antignac, C.8
-
118
-
-
53049110420
-
A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene
-
Salo AM, Cox H, Farndon P, Moss C, Grindulis H, Risteli M, Robins SP, Myllylä R. A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. Am J Hum Genet. 2008;83:495-503.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 495-503
-
-
Salo, A.M.1
Cox, H.2
Farndon, P.3
Moss, C.4
Grindulis, H.5
Risteli, M.6
Robins, S.P.7
Myllylä, R.8
-
119
-
-
0018903175
-
Polycystic kidneys and abdominal aortic aneurysms
-
Chapman JR, Hilson AJ. Polycystic kidneys and abdominal aortic aneurysms. Lancet. 1980;1:646-647.
-
(1980)
Lancet
, vol.1
, pp. 646-647
-
-
Chapman, J.R.1
Hilson, A.J.2
-
120
-
-
0019334497
-
Aortic aneurysms in presence of kidney disease
-
Roodvoets AP. Aortic aneurysms in presence of kidney disease. Lancet. 1980;1:1413-1414.
-
(1980)
Lancet
, vol.1
, pp. 1413-1414
-
-
Roodvoets, A.P.1
-
121
-
-
0030377075
-
Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease
-
Torra R, Nicolau C, Badenas C, Brú C, Pérez L, Estivill X, Darnell A. Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1996;7:2483-2486.
-
(1996)
J Am Soc Nephrol
, vol.7
, pp. 2483-2486
-
-
Torra, R.1
Nicolau, C.2
Badenas, C.3
Brú, C.4
Pérez, L.5
Estivill, X.6
Darnell, A.7
-
122
-
-
0006127407
-
Systemic manifestations of renal cystic disease
-
Gardner KD, Berstein J, eds. Dordrecht: Kluwer
-
Torres VE. Systemic manifestations of renal cystic disease. In: Gardner KD, Berstein J, eds. The Cystic Kidney. Dordrecht: Kluwer; 1990:295-326.
-
(1990)
The Cystic Kidney
, pp. 295-326
-
-
Torres, V.E.1
-
123
-
-
0035083551
-
The genetics and physiology of polycystic kidney disease
-
Calvet JP, Grantham JJ. The genetics and physiology of polycystic kidney disease. Semin Nephrol. 2001;21:107-123.
-
(2001)
Semin Nephrol
, vol.21
, pp. 107-123
-
-
Calvet, J.P.1
Grantham, J.J.2
-
124
-
-
77955494879
-
Elevated TGFbeta-Smad signalling in experimental Pkd1 models and human patients with polycystic kidney disease
-
Hassane S, Leonhard WN, van der Wal A, Hawinkels LJ, Lantingavan Leeuwen IS, ten Dijke P, Breuning MH, de Heer E, Peters DJ. Elevated TGFbeta-Smad signalling in experimental Pkd1 models and human patients with polycystic kidney disease. J Pathol. 2010;222:21-31.
-
(2010)
J Pathol
, vol.222
, pp. 21-31
-
-
Hassane, S.1
Leonhard, W.N.2
Van Der Wal, A.3
Hawinkels, L.J.4
Lantingavan Leeuwen, I.S.5
Ten Dijke, P.6
Breuning, M.H.7
De Heer, E.8
Peters, D.J.9
-
125
-
-
84873373738
-
Aortic disease in the young: Genetic aneurysm syndromes, connective tissue disorders, and familial aortic aneurysms and dissections
-
Cury M, Zeidan F, Lobato AC. Aortic disease in the young: genetic aneurysm syndromes, connective tissue disorders, and familial aortic aneurysms and dissections. Int J Vasc Med. 2013;2013:267215.
-
(2013)
Int J Vasc Med
, vol.2013
, pp. 267215
-
-
Cury, M.1
Zeidan, F.2
Lobato, A.C.3
-
126
-
-
0031823564
-
Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections
-
Milewicz DM, Chen H, Park ES, Petty EM, Zaghi H, Shashidhar G, Willing M, Patel V. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol. 1998;82:474-479.
-
(1998)
Am J Cardiol
, vol.82
, pp. 474-479
-
-
Milewicz, D.M.1
Chen, H.2
Park, E.S.3
Petty, E.M.4
Zaghi, H.5
Shashidhar, G.6
Willing, M.7
Patel, V.8
-
127
-
-
0038755597
-
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25
-
Hasham SN, Willing MC, Guo DC, Muilenburg A, He R, Tran VT, Scherer SE, Shete SS, Milewicz DM. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003;107:3184-3190.
-
(2003)
Circulation
, vol.107
, pp. 3184-3190
-
-
Hasham, S.N.1
Willing, M.C.2
Guo, D.C.3
Muilenburg, A.4
He, R.5
Tran, V.T.6
Scherer, S.E.7
Shete, S.S.8
Milewicz, D.M.9
-
128
-
-
0029801012
-
Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms
-
Milewicz DM, Michael K, Fisher N, Coselli JS, Markello T, Biddinger A. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation. 1996;94:2708-2711.
-
(1996)
Circulation
, vol.94
, pp. 2708-2711
-
-
Milewicz, D.M.1
Michael, K.2
Fisher, N.3
Coselli, J.S.4
Markello, T.5
Biddinger, A.6
-
129
-
-
0035933045
-
Familial thoracic aortic aneurysms and dissections: Genetic heterogeneity with a major locus mapping to 5q13-14
-
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 5q13-14. Circulation. 2001;103:2461-2468.
-
(2001)
Circulation
, vol.103
, 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
-
130
-
-
69749113581
-
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations
-
Tran-Fadulu V, Pannu H, Kim DH, et al. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet. 2009;46:607-613.
-
(2009)
J Med Genet
, vol.46
, pp. 607-613
-
-
Tran-Fadulu, V.1
Pannu, H.2
Kim, D.H.3
-
131
-
-
0035933002
-
Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder
-
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;103:2469-2475.
-
(2001)
Circulation
, vol.103
, 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
-
132
-
-
79952779871
-
Familial thoracic aortic aneurysms and dissections: Identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection
-
Guo D-C, Regalado ES, Minn C, Tran-Fadulu V, Coney J, Cao J, Wang M, Yu RK, Estrera AL, Safi HJ, Shete SS, Milewicz DM. Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection. Circ Genetics. 2011; 4:36-42.
-
(2011)
Circ Genetics
, vol.4
, pp. 36-42
-
-
Guo, D.-C.1
Regalado, E.S.2
Minn, C.3
Tran-Fadulu, V.4
Coney, J.5
Cao, J.6
Wang, M.7
Yu, R.K.8
Estrera, A.L.9
Safi, H.J.10
Shete, S.S.11
Milewicz, D.M.12
-
133
-
-
77957689922
-
The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus
-
Keramati AR, Sadeghpour A, Farahani MM, Chandok G, Mani A. The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus. BMC Med Genet. 2010;11:143.
-
(2010)
BMC Med Genet
, vol.11
, pp. 143
-
-
Keramati, A.R.1
Sadeghpour, A.2
Farahani, M.M.3
Chandok, G.4
Mani, A.5
-
134
-
-
80053385386
-
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1
-
Lemaire SA, McDonald ML, Guo DC, et al. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet. 2011;43:996-1000.
-
(2011)
Nat Genet
, vol.43
, pp. 996-1000
-
-
Lemaire, S.A.1
McDonald, M.L.2
Guo, D.C.3
-
135
-
-
34249709962
-
Genetic basis of thoracic aortic aneurysms and dissections: Potential relevance to abdominal aortic aneurysms
-
Pannu H, Avidan N, Tran-Fadulu V, Milewicz DM. Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms. Ann N Y Acad Sci. 2006;1085:242-255.
-
(2006)
Ann N y Acad Sci
, vol.1085
, pp. 242-255
-
-
Pannu, H.1
Avidan, N.2
Tran-Fadulu, V.3
Milewicz, D.M.4
-
136
-
-
22144495760
-
Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13
-
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;112:200-206.
-
(2005)
Circulation
, vol.112
, 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
-
137
-
-
78649764506
-
Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections
-
Prakash SK, LeMaire SA, Guo DC, Russell L, Regalado ES, Golabbakhsh H, Johnson RJ, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Milewicz DM, Belmont JW. Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. Am J Hum Genet. 2010;87:743-756.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 743-756
-
-
Prakash, S.K.1
Lemaire, S.A.2
Guo, D.C.3
Russell, L.4
Regalado, E.S.5
Golabbakhsh, H.6
Johnson, R.J.7
Safi, H.J.8
Estrera, A.L.9
Coselli, J.S.10
Bray, M.S.11
Leal, S.M.12
Milewicz, D.M.13
Belmont, J.W.14
-
138
-
-
79959889715
-
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections
-
GenTAC Investigators
-
Kuang SQ, Guo DC, Prakash SK, et al; GenTAC Investigators. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011;7:e1002118.
-
(2011)
PLoS Genet
, vol.7
-
-
Kuang, S.Q.1
Guo, D.C.2
Prakash, S.K.3
-
139
-
-
33947144645
-
Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations
-
Martin LJ, Ramachandran V, Cripe LH, Hinton RB, Andelfinger 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;121:275-284.
-
(2007)
Hum Genet
, vol.121
, pp. 275-284
-
-
Martin, L.J.1
Ramachandran, V.2
Cripe, L.H.3
Hinton, R.B.4
Andelfinger, G.5
Tabangin, M.6
Shooner, K.7
Keddache, M.8
Benson, D.W.9
-
140
-
-
34548307188
-
Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance
-
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;143A:1960-1967.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1960-1967
-
-
Loscalzo, M.L.1
Goh, D.L.2
Loeys, B.3
Kent, K.C.4
Spevak, P.J.5
Dietz, H.C.6
-
141
-
-
84867387610
-
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm
-
Al-Mohaissen M, Allanson JE, O'Connor MD, Veinot JP, Brandys TM, Maharajh G, Dennie CJ, Beauchesne LM. Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. Vasc Med. 2012;17:326-329.
-
(2012)
Vasc Med
, vol.17
, pp. 326-329
-
-
Al-Mohaissen, M.1
Allanson, J.E.2
O'Connor, M.D.3
Veinot, J.P.4
Brandys, T.M.5
Maharajh, G.6
Dennie, C.J.7
Beauchesne, L.M.8
-
142
-
-
84865230729
-
Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization
-
Malloy LE, Wen KK, Pierick AR, Wedemeyer EW, Bergeron SE, Vanderpool ND, McKane M, Rubenstein PA, Bartlett HL. Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization. J Biol Chem. 2012;287:28398-28408.
-
(2012)
J Biol Chem
, vol.287
, pp. 28398-28408
-
-
Malloy, L.E.1
Wen, K.K.2
Pierick, A.R.3
Wedemeyer, E.W.4
Bergeron, S.E.5
Vanderpool, N.D.6
McKane, M.7
Rubenstein, P.A.8
Bartlett, H.L.9
-
143
-
-
84876672165
-
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus
-
Harakalova M, van der Smagt J, de Kovel CG, et al. Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. Eur J Hum Genet. 2013;21:487-493.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 487-493
-
-
Harakalova, M.1
Van Der Smagt, J.2
De Kovel, C.G.3
-
144
-
-
20244382684
-
Mutation of smooth muscle myosin causes epithelial invasion and cystic expansion of the zebrafish intestine
-
Wallace KN, Dolan AC, Seiler C, Smith EM, Yusuff S, Chaille-Arnold L, Judson B, Sierk R, Yengo C, Sweeney HL, Pack M. Mutation of smooth muscle myosin causes epithelial invasion and cystic expansion of the zebrafish intestine. Dev Cell. 2005;8:717-726.
-
(2005)
Dev Cell
, vol.8
, pp. 717-726
-
-
Wallace, K.N.1
Dolan, A.C.2
Seiler, C.3
Smith, E.M.4
Yusuff, S.5
Chaille-Arnold, L.6
Judson, B.7
Sierk, R.8
Yengo, C.9
Sweeney, H.L.10
Pack, M.11
-
145
-
-
0035895901
-
Dedicated myosin light chain kinases with diverse cellular functions
-
Kamm KE, Stull JT. Dedicated myosin light chain kinases with diverse cellular functions. J Biol Chem. 2001;276:4527-4530.
-
(2001)
J Biol Chem
, vol.276
, pp. 4527-4530
-
-
Kamm, K.E.1
Stull, J.T.2
-
146
-
-
84876664370
-
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
-
Renard M, Callewaert B, Baetens M, et al. Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol. 2013;165:314-321.
-
(2013)
Int J Cardiol
, vol.165
, pp. 314-321
-
-
Renard, M.1
Callewaert, B.2
Baetens, M.3
-
147
-
-
65149088429
-
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease
-
Guo DC, Papke CL, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009;84:617-627.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 617-627
-
-
Guo, D.C.1
Papke, C.L.2
Tran-Fadulu, V.3
-
148
-
-
0034704998
-
Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase
-
Lee TC, Zhao YD, Courtman DW, Stewart DJ. Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase. Circulation. 2000;101:2345-2348.
-
(2000)
Circulation
, vol.101
, pp. 2345-2348
-
-
Lee, T.C.1
Zhao, Y.D.2
Courtman, D.W.3
Stewart, D.J.4
-
149
-
-
27944503483
-
Ubiquitin fusion degradation 1-like gene dysregulation in bicuspid aortic valve
-
Mohamed SA, Hanke T, Schlueter C, Bullerdiek J, Sievers HH. Ubiquitin fusion degradation 1-like gene dysregulation in bicuspid aortic valve. J Thorac Cardiovasc Surg. 2005;130:1531-1536.
-
(2005)
J Thorac Cardiovasc Surg
, vol.130
, pp. 1531-1536
-
-
Mohamed, S.A.1
Hanke, T.2
Schlueter, C.3
Bullerdiek, J.4
Sievers, H.H.5
-
150
-
-
9144246932
-
Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation
-
Timmerman LA, Grego-Bessa J, Raya A, Bertrán E,
-
(2004)
Genes Dev
, vol.18
, pp. 99-115
-
-
Timmerman, L.A.1
Grego-Bessa, J.2
Raya, A.3
Bertrán, E.4
Pérez-Pomares, J.M.5
Díez, J.6
Aranda, S.7
Palomo, S.8
McCormick, F.9
Izpisúa-Belmonte, J.C.10
De La Pompa, J.L.11
-
151
-
-
84871593869
-
Notch signaling in descending thoracic aortic aneurysm and dissection
-
Zou S, Ren P, Nguyen M, Coselli JS, Shen YH, LeMaire SA. Notch signaling in descending thoracic aortic aneurysm and dissection. PLoS One. 2012;7:e52833.
-
(2012)
PLoS One
, vol.7
-
-
Zou, S.1
Ren, P.2
Nguyen, M.3
Coselli, J.S.4
Shen, Y.H.5
Lemaire, S.A.6
-
152
-
-
61949188315
-
Ascending aortic dilatation associated with bicuspid aortic valve: Pathophysiology, molecular biology, and clinical implications
-
Tadros TM, Klein MD, Shapira OM. Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation. 2009;119:880-890.
-
(2009)
Circulation
, vol.119
, pp. 880-890
-
-
Tadros, T.M.1
Klein, M.D.2
Shapira, O.M.3
-
153
-
-
66849131058
-
Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway
-
Gomez D, Al Haj Zen A, Borges LF, Philippe M, Gutierrez PS, Jondeau G, Michel JB, Vranckx R. Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway. J Pathol. 2009;218:131-142.
-
(2009)
J Pathol
, vol.218
, pp. 131-142
-
-
Gomez, D.1
Al Haj Zen, A.2
Borges, L.F.3
Philippe, M.4
Gutierrez, P.S.5
Jondeau, G.6
Michel, J.B.7
Vranckx, R.8
-
154
-
-
84874037055
-
A combined proteomic and transcriptomic approach shows diverging molecular mechanisms in thoracic aortic aneurysm development in patients with tricuspid-and bicuspid aortic valve
-
Kjellqvist S, Maleki S, Olsson T, Chwastyniak M, Branca RM, Lehtiö J, Pinet F, Franco-Cereceda A, Eriksson P. A combined proteomic and transcriptomic approach shows diverging molecular mechanisms in thoracic aortic aneurysm development in patients with tricuspid-and bicuspid aortic valve. Mol Cell Proteomics. 2013;12:407-425.
-
(2013)
Mol Cell Proteomics
, vol.12
, pp. 407-425
-
-
Kjellqvist, S.1
Maleki, S.2
Olsson, T.3
Chwastyniak, M.4
Branca, R.M.5
Lehtiö, J.6
Pinet, F.7
Franco-Cereceda, A.8
Eriksson, P.9
-
155
-
-
0141853867
-
Vascular matrix remodeling in patients with bicuspid aortic valve malformations: Implications for aortic dilatation
-
Fedak PW, de Sa MP, Verma S, Nili N, Kazemian P, Butany J, Strauss BH, Weisel RD, David TE. Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. J Thorac Cardiovasc Surg. 2003;126:797-806.
-
(2003)
J Thorac Cardiovasc Surg
, vol.126
, pp. 797-806
-
-
Fedak, P.W.1
De Sa, M.P.2
Verma, S.3
Nili, N.4
Kazemian, P.5
Butany, J.6
Strauss, B.H.7
Weisel, R.D.8
David, T.E.9
-
156
-
-
0042416827
-
Abnormal extracellular matrix protein transport associated with increased apoptosis of vascular smooth muscle cells in marfan syndrome and bicuspid aortic valve thoracic aortic aneurysm
-
Nataatmadja M, West M, West J, Summers K, Walker P, Nagata M, Watanabe T. Abnormal extracellular matrix protein transport associated with increased apoptosis of vascular smooth muscle cells in marfan syndrome and bicuspid aortic valve thoracic aortic aneurysm. Circulation. 2003;108(suppl 1):II329-II334.
-
(2003)
Circulation
, vol.108
, Issue.SUPPL. 1
-
-
Nataatmadja, M.1
West, M.2
West, J.3
Summers, K.4
Walker, P.5
Nagata, M.6
Watanabe, T.7
-
157
-
-
11844295380
-
Matrix metalloproteinases in ascending aortic aneurysms: Bicuspid versus trileaflet aortic valves
-
LeMaire SA, Wang X, Wilks JA, Carter SA, Wen S, Won T, Leonardelli D, Anand G, Conklin LD, Wang XL, Thompson RW, Coselli JS. Matrix metalloproteinases in ascending aortic aneurysms: bicuspid versus trileaflet aortic valves. J Surg Res. 2005;123:40-48.
-
(2005)
J Surg Res
, vol.123
, pp. 40-48
-
-
Lemaire, S.A.1
Wang, X.2
Wilks, J.A.3
Carter, S.A.4
Wen, S.5
Won, T.6
Leonardelli, D.7
Anand, G.8
Conklin, L.D.9
Wang, X.L.10
Thompson, R.W.11
Coselli, J.S.12
-
158
-
-
0034650486
-
Cell surface-localized matrix metalloproteinase-9 proteolytically activates TGF-beta and promotes tumor invasion and angiogenesis
-
Yu Q, Stamenkovic I. Cell surface-localized matrix metalloproteinase-9 proteolytically activates TGF-beta and promotes tumor invasion and angiogenesis. Genes Dev. 2000;14:163-176.
-
(2000)
Genes Dev
, vol.14
, pp. 163-176
-
-
Yu, Q.1
Stamenkovic, I.2
-
159
-
-
42949138868
-
Aortic valve disease in Turner syndrome
-
Sachdev V, Matura LA, Sidenko S, Ho VB, Arai AE, Rosing DR, Bondy CA. Aortic valve disease in Turner syndrome. J Am Coll Cardiol. 2008;51:1904-1909.
-
(2008)
J Am Coll Cardiol
, vol.51
, pp. 1904-1909
-
-
Sachdev, V.1
Matura, L.A.2
Sidenko, S.3
Ho, V.B.4
Arai, A.E.5
Rosing, D.R.6
Bondy, C.A.7
-
160
-
-
33744464743
-
Interstitial 9q22.3 microdeletion: Clinical and molecular characterisation of a newly recognised overgrowth syndrome
-
Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet. 2006;14:759-767.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 759-767
-
-
Redon, R.1
Baujat, G.2
Sanlaville, D.3
Le Merrer, M.4
Vekemans, M.5
Munnich, A.6
Carter, N.P.7
Cormier-Daire, V.8
Colleaux, L.9
-
161
-
-
79956205243
-
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly
-
Campbell IM, Kolodziejska KE, Quach MM, Wolf VL, Cheung SW, Lalani SR, Ramocki MB, Stankiewicz P. TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. Am J Med Genet A. 2011;155A:1442-1447.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 1442-1447
-
-
Campbell, I.M.1
Kolodziejska, K.E.2
Quach, M.M.3
Wolf, V.L.4
Cheung, S.W.5
Lalani, S.R.6
Ramocki, M.B.7
Stankiewicz, P.8
-
162
-
-
79953180846
-
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
-
Goudie DR, D'Alessandro M, Merriman B, et al. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet. 2011;43:365-369.
-
(2011)
Nat Genet
, vol.43
, pp. 365-369
-
-
Goudie, D.R.1
D'Alessandro, M.2
Merriman, B.3
-
163
-
-
77950923685
-
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, A
-
Hiratzka LF, Bakris GL, Beckman JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/ SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, A. Circulation. 2010;121:e266-369.
-
(2010)
Circulation
, vol.121
-
-
Hiratzka, L.F.1
Bakris, G.L.2
Beckman, J.A.3
-
164
-
-
0028296142
-
Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome
-
Shores J, Berger KR, Murphy EA, Pyeritz RE. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med. 1994;330:1335-1341.
-
(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
-
165
-
-
28244441145
-
Marfan's syndrome
-
Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005;366:1965-1976.
-
(2005)
Lancet
, vol.366
, pp. 1965-1976
-
-
Judge, D.P.1
Dietz, H.C.2
-
166
-
-
45949092534
-
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome
-
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;358:2787-2795.
-
(2008)
N Engl J Med
, vol.358
, pp. 2787-2795
-
-
Brooke, B.S.1
Habashi, J.P.2
Judge, D.P.3
Patel, N.4
Loeys, B.5
Dietz III, H.C.6
-
167
-
-
34548775221
-
Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome
-
Pediatric Heart Network Investigators
-
Lacro RV, Dietz HC, Wruck LM, et al; Pediatric Heart Network Investigators. Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J. 2007;154:624-631.
-
(2007)
Am Heart J
, vol.154
, pp. 624-631
-
-
Lacro, R.V.1
Dietz, H.C.2
Wruck, L.M.3
-
168
-
-
84876689767
-
Losartan added to β-blockade therapy for aortic root dilation in Marfan syndrome: A randomized, open-label pilot study
-
Chiu HH, Wu MH, Wang JK, Lu CW, Chiu SN, Chen CA, Lin MT, Hu FC. Losartan added to β-blockade therapy for aortic root dilation in Marfan syndrome: a randomized, open-label pilot study. Mayo Clin Proc. 2013;88:271-276.
-
(2013)
Mayo Clin Proc
, vol.88
, pp. 271-276
-
-
Chiu, H.H.1
Wu, M.H.2
Wang, J.K.3
Lu, C.W.4
Chiu, S.N.5
Chen, C.A.6
Lin, M.T.7
Hu, F.C.8
-
169
-
-
84863543450
-
Matrix metalloproteinase inhibition therapy for vascular diseases
-
Newby AC. Matrix metalloproteinase inhibition therapy for vascular diseases. Vascul Pharmacol. 2012;56:232-244.
-
(2012)
Vascul Pharmacol
, vol.56
, pp. 232-244
-
-
Newby, A.C.1
-
170
-
-
84872374498
-
Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice
-
Guo G, Muñoz-García B, Ott CE, Grünhagen J, Mousa SA, Pletschacher A, von Kodolitsch Y, Knaus P, Robinson PN. Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice. Hum Mol Genet. 2013;22:433-443.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 433-443
-
-
Guo, G.1
Muñoz-García, B.2
Ott, C.E.3
Grünhagen, J.4
Mousa, S.A.5
Pletschacher, A.6
Von Kodolitsch, Y.7
Knaus, P.8
Robinson, P.N.9
-
171
-
-
84860238588
-
Stem cells in thoracic aortic aneurysms and dissections: Potential contributors to aortic repair
-
Shen YH, Hu X, Zou S, Wu D, Coselli JS, LeMaire SA. Stem cells in thoracic aortic aneurysms and dissections: potential contributors to aortic repair. Ann Thorac Surg. 2012;93:1524-1533.
-
(2012)
Ann Thorac Surg
, vol.93
, pp. 1524-1533
-
-
Shen, Y.H.1
Hu, X.2
Zou, S.3
Wu, D.4
Coselli, J.S.5
Lemaire, S.A.6
-
172
-
-
78349242484
-
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
-
Milewicz DM, Ostergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Ades L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet. 2010;152A:2437-2443.
-
(2010)
Am J Med Genet
, vol.152 A
, pp. 2437-2443
-
-
Milewicz, D.M.1
Ostergaard, J.R.2
Ala-Kokko, L.M.3
Khan, N.4
Grange, D.K.5
Mendoza-Londono, R.6
Bradley, T.J.7
Olney, A.H.8
Ades, L.9
Maher, J.F.10
Guo, D.11
Buja, L.M.12
Kim, D.13
Hyland, J.C.14
Regalado, E.S.15
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