-
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(7347):308-316
-
(2011)
Nature
, vol.473
, Issue.7347
, pp. 308-316
-
-
Lindsay, M.E.1
Dietz, H.C.2
-
2
-
-
52949141431
-
Genetic basis of thoracic aortic aneurysms and dissections: Focus on smooth muscle cell contractile dysfunction
-
Milewicz DM, Guo DC, Tran-Fadulu V, et al. 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
-
3
-
-
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(2):314-321
-
(2013)
Int J Cardiol.
, vol.165
, Issue.2
, pp. 314-321
-
-
Renard, M.1
Callewaert, B.2
Baetens, M.3
-
4
-
-
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(12):1488-1493
-
(2007)
Nat Genet.
, vol.39
, Issue.12
, pp. 1488-1493
-
-
Guo, D.C.1
Pannu, H.2
Tran-Fadulu, V.3
-
5
-
-
77951478759
-
Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy
-
Milewicz DM, Kwartler CS, Papke CL, Regalado ES, Cao J, Reid AJ. Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy. Genet Med. 2010;12(4):196-203
-
(2010)
Genet Med.
, vol.12
, Issue.4
, pp. 196-203
-
-
Milewicz, D.M.1
Kwartler, C.S.2
Papke, C.L.3
Regalado, E.S.4
Cao, J.5
Reid, A.J.6
-
6
-
-
84864686056
-
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
-
Munot P, Saunders DE, Milewicz DM, et al. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain. 2012;135(pt 8):2506-2514
-
(2012)
Brain
, vol.135
, pp. 2506-2514
-
-
Munot, P.1
Saunders, D.E.2
Milewicz, D.M.3
-
7
-
-
0036546933
-
Clinicopathologic reports, case reports, and small case series: Congenital mydriasis, failure of accommodation, and patent ductus arteriosus
-
Gräf MH, Jungherr A. Clinicopathologic reports, case reports, and small case series: congenital mydriasis, failure of accommodation, and patent ductus arteriosus. Arch Ophthalmol. 2002;120(4):509-510
-
(2002)
Arch Ophthalmol.
, vol.120
, Issue.4
, pp. 509-510
-
-
Gräf, M.H.1
Jungherr, A.2
-
8
-
-
23144432239
-
Congenital mydriasis combined with aneurysmal dilatation of a persistent ductus arteriosus Botalli: A rare syndrome
-
Lindberg K, Brunvand L. Congenital mydriasis combined with aneurysmal dilatation of a persistent ductus arteriosus Botalli: a rare syndrome. Acta Ophthalmol Scand. 2005;83(4):508-509
-
(2005)
Acta Ophthalmol Scand.
, vol.83
, Issue.4
, pp. 508-509
-
-
Lindberg, K.1
Brunvand, L.2
-
9
-
-
84878248415
-
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome
-
Meuwissen ME, Lequin MH, Bindels-de Heus K, et al. ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. Am J Med Genet A. 2013;161A(6):1376-1380
-
(2013)
Am J Med Genet A
, vol.161 A
, Issue.6
, pp. 1376-1380
-
-
Meuwissen, M.E.1
Lequin, M.H.2
Bindels-De Heus, K.3
-
10
-
-
84875352288
-
Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation
-
Moosa AN, Traboulsi EI, Reid J, Prieto L, Moran R, Friedman NR. Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. J Child Neurol. 2013;28(4):531-534
-
(2013)
J Child Neurol.
, vol.28
, Issue.4
, pp. 531-534
-
-
Moosa, A.N.1
Traboulsi, E.I.2
Reid, J.3
Prieto, L.4
Moran, R.5
Friedman, N.R.6
-
11
-
-
84857114602
-
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations
-
Richer J, Milewicz DM, Gow R, et al. R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. Am J Med Genet A. 2012;158A(3):664-668
-
(2012)
Am J Med Genet A
, vol.158 A
, Issue.3
, pp. 664-668
-
-
Richer, J.1
Milewicz, D.M.2
Gow, R.3
-
12
-
-
78349242484
-
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
-
Milewicz DM, Østergaard JR, Ala-Kokko LM, et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010;152A(10):2437-2443
-
(2010)
Am J Med Genet A
, vol.152 A
, Issue.10
, pp. 2437-2443
-
-
Milewicz, D.M.1
Østergaard, J.R.2
Ala-Kokko, L.M.3
-
13
-
-
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(5):617-627
-
(2009)
Am J Hum Genet.
, vol.84
, Issue.5
, pp. 617-627
-
-
Guo, D.C.1
Papke, C.L.2
Tran-Fadulu, V.3
-
14
-
-
79953211123
-
Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function
-
Bergeron SE, Wedemeyer EW, Lee R, et al. Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function. J Biol Chem. 2011;286(13):11356-11369
-
(2011)
J Biol Chem.
, vol.286
, Issue.13
, pp. 11356-11369
-
-
Bergeron, S.E.1
Wedemeyer, E.W.2
Lee, R.3
-
15
-
-
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, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine
-
American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American College of Radiology; American Stroke Association; Society of Cardiovascular Anesthesiologists; Society for Cardiovascular Angiography and Interventions; Society of Interventional Radiology; Society of Thoracic Surgeons; Society for Vascular Medicine
-
Hiratzka LF, Bakris GL, Beckman JA, et al; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American College of Radiology; American Stroke Association; Society of Cardiovascular Anesthesiologists; Society for Cardiovascular Angiography and Interventions; Society of Interventional Radiology; Society of Thoracic Surgeons; Society for Vascular Medicine. 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, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation. 2010;121(13):e266-e369
-
(2010)
Circulation
, vol.121
, Issue.13
, pp. e266-e369
-
-
Hiratzka, L.F.1
Bakris, G.L.2
Beckman, J.A.3
-
16
-
-
84880795141
-
Genetics of thoracic aortic aneurysm: At the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility
-
Gillis E, Van Laer L, Loeys BL. Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility. Circ Res. 2013;113(3):327-340
-
(2013)
Circ Res.
, vol.113
, Issue.3
, pp. 327-340
-
-
Gillis, E.1
Van Laer, L.2
Loeys, B.L.3
-
17
-
-
10744231927
-
Characterizing the young patient with aortic dissection: Results from the International Registry of Aortic Dissection (IRAD)
-
International Registry of Aortic Dissection (IRAD)
-
Januzzi JL, Isselbacher EM, Fattori R, et al; International Registry of Aortic Dissection (IRAD). Characterizing the young patient with aortic dissection: results from the International Registry of Aortic Dissection (IRAD). J Am Coll Cardiol. 2004;43(4):665-669
-
(2004)
J Am Coll Cardiol.
, vol.43
, Issue.4
, pp. 665-669
-
-
Januzzi, J.L.1
Isselbacher, E.M.2
Fattori, R.3
-
18
-
-
58649124954
-
Rationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)
-
Eagle KA; GenTAC Consortium. Rationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). Am Heart J. 2009;157(2):319-326
-
(2009)
Am Heart J
, vol.157
, Issue.2
, pp. 319-326
-
-
Eagle, K.A.1
-
19
-
-
0034673103
-
The International Registry of Acute Aortic Dissection (IRAD): New insights into an old disease
-
Hagan PG, Nienaber CA, Isselbacher EM, et al. The International Registry of Acute Aortic Dissection (IRAD): new insights into an old disease. JAMA. 2000;283(7):897-903
-
(2000)
JAMA
, vol.283
, Issue.7
, pp. 897-903
-
-
Hagan, P.G.1
Nienaber, C.A.2
Isselbacher, E.M.3
|