-
1
-
-
0032574641
-
Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. Ehlers-danlos national foundation (USA) and Ehlers-Danlos support group (UK)
-
Beighton P, De Paepe A, Steinmann B, et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998;77:31-37.
-
(1998)
Am J Med Genet
, vol.77
, pp. 31-37
-
-
Beighton, P.1
De Paepe, A.2
Steinmann, B.3
-
2
-
-
0014191656
-
Heterogeneity of the Ehlers-Danlos syndrome: Description of three clinical types and a hypothesis to explain the basic defect (s)
-
Barabas AP. Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect (s). BMJ 1967;2:612-613.
-
(1967)
BMJ
, vol.2
, pp. 612-613
-
-
Barabas, A.P.1
-
3
-
-
0023917651
-
International nosology of heritable disorders of connective tissue, Berlin, 1986
-
Beighton P, de Paepe A, Danks D, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 1988;29:581-594.
-
(1988)
Am J Med Genet
, vol.29
, pp. 581-594
-
-
Beighton, P.1
De Paepe, A.2
Danks, D.3
-
6
-
-
0034054910
-
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
-
DOI 10.1056/NEJM200003093421001
-
Pepin M, Schwarze U, Superti-Furga A, et al. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000;342:673-680. (Pubitemid 30131419)
-
(2000)
New England Journal of Medicine
, vol.342
, Issue.10
, pp. 673-680
-
-
Pepin, M.1
Schwarze, U.2
Superti-Furga, A.3
Byers, P.H.4
-
7
-
-
0021638244
-
Osteogenesis imperfecta: Phenotypic heterogeneity, protein suicide, short and long collagen
-
Prockop DJ. Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen. Am J Hum Genet 1984;36:499-505. (Pubitemid 14121882)
-
(1984)
American Journal of Human Genetics
, vol.36
, Issue.3
, pp. 499-505
-
-
Prockop, D.J.1
-
8
-
-
0019155951
-
Lung collagen in type IV Ehlers-Danlos syndrome: Ultrastructural and biochemical studies
-
Clark JG, Kuhn C 3rd, Uitto J. Lung collagen in type IV Ehlers-Danlos syndrome: ultrastructural and biochemical studies. Am Rev Respir Dis 1980;122:971-978. (Pubitemid 11207876)
-
(1980)
American Review of Respiratory Disease
, vol.122
, Issue.6
, pp. 971-978
-
-
Clark, J.G.1
Kuhn III, C.2
Uitto, J.3
-
9
-
-
0028136032
-
Pathomorphological and biochemical alterations in Ehlers-Danlos-syndrome type IV
-
discussion 706-707
-
Nerlich AG, Stoss H, Lehmann H, et al. Pathomorphological and biochemical alterations in Ehlers-Danlos-syndrome type IV. Pathol Res Pract 1994;190:697-706; discussion 706-707.
-
(1994)
Pathol Res Pract
, vol.190
, pp. 697-706
-
-
Nerlich, A.G.1
Stoss, H.2
Lehmann, H.3
-
10
-
-
0016137618
-
(Alpha1 (3)) 3 human skin collagen. Release by pepsin digestion and preponderance in fetal life
-
Epstein EH Jr. (Alpha1 (3)) 3 human skin collagen. Release by pepsin digestion and preponderance in fetal life. J Biol Chem 1974;249:3225-3231.
-
(1974)
J Biol Chem
, vol.249
, pp. 3225-3231
-
-
Epstein Jr., E.H.1
-
11
-
-
0025985181
-
Vascular collagen fibril morphology in type IV Ehlers-Danlos syndrome
-
Crowther MA, Lach B, Dunmore PJ, et al. Vascular collagen fibril morphology in type IV Ehlers-Danlos syndrome. Connect Tissue Res 1991;25:209-217.
-
(1991)
Connect Tissue Res
, vol.25
, pp. 209-217
-
-
Crowther, M.A.1
Lach, B.2
Dunmore, P.J.3
-
12
-
-
84995647988
-
Ehlers-Danlos syndrome type IV
-
Pepin M, Byers P. Ehlers-Danlos syndrome type IV. Gene Reviews 2011. http://www.ncbi.nlm.nih.gov/books/NBK1494/.
-
(2011)
Gene Reviews
-
-
Pepin, M.1
Byers, P.2
-
13
-
-
22044433881
-
The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: A 30-year experience
-
DOI 10.1016/j.jvs.2005.03.053, PII S0741521405005409
-
Oderich GS, Panneton JM, Bower TC, et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 2005;42:98-106. (Pubitemid 40966082)
-
(2005)
Journal of Vascular Surgery
, vol.42
, Issue.1
, pp. 98-106
-
-
Oderich, G.S.1
Panneton, J.M.2
Bower, T.C.3
Lindor, N.M.4
Cherry Jr., K.J.5
Noel, A.A.6
Kalra, M.7
Sullivan, T.8
Gloviczki, P.9
-
14
-
-
0034601304
-
Ehlers-Danlos syndrome type IV
-
author reply 368
-
Barabas AP. Ehlers-Danlos syndrome type IV. N Engl J Med 2000;343:366; author reply 368.
-
(2000)
N Engl J Med
, vol.343
, pp. 366
-
-
Barabas, A.P.1
-
15
-
-
0029609683
-
Cerebrovascular complications in Ehlers-Danlos syndrome type IV
-
DOI 10.1002/ana.410380620
-
North KN, Whiteman DA, Pepin MG, et al. Cerebrovascular complications in Ehlers-Danlos syndrome type IV. Ann Neurol 1995;38:960-964. (Pubitemid 26004080)
-
(1995)
Annals of Neurology
, vol.38
, Issue.6
, pp. 960-964
-
-
North, K.N.1
Whiteman, D.A.H.2
Pepin, M.G.3
Byers, P.H.4
-
17
-
-
0036314742
-
Clinical and genetic features of vascular Ehlers-Danlos syndrome
-
DOI 10.1007/s10016-001-0229-y
-
Germain DP. Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg 2002;16:391-397. (Pubitemid 34761176)
-
(2002)
Annals of Vascular Surgery
, vol.16
, Issue.3
, pp. 391-397
-
-
Germain, D.P.1
-
18
-
-
0014491335
-
Surgical aspects of the Ehlers-Danlos syndrome: A survey of 100 cases
-
Beighton P, Horan FT. Surgical aspects of the Ehlers-Danlos syndrome: a survey of 100 cases. Br J Surg 1969;56:255-259.
-
(1969)
Br J Surg
, vol.56
, pp. 255-259
-
-
Beighton, P.1
Horan, F.T.2
-
19
-
-
0015313956
-
Vascular complications in the Ehlers-Danlos syndrome, with special reference to the 'arterial type' or Sack's syndrome
-
Barabas AP. Vascular complications in the Ehlers-Danlos syndrome, with special reference to the 'arterial type' or Sack's syndrome. J Cardiovasc Surg (Torino) 1972;13:160-167.
-
(1972)
J Cardiovasc Surg (Torino)
, vol.13
, pp. 160-167
-
-
Barabas, A.P.1
-
20
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-β receptor
-
DOI 10.1056/NEJMoa055695
-
Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788-798. (Pubitemid 44285584)
-
(2006)
New England Journal of Medicine
, vol.355
, Issue.8
, pp. 788-798
-
-
Loeys, B.L.1
Schwarze, U.2
Holm, T.3
Callewaert, B.L.4
Thomas, G.H.5
Pannu, H.6
De Backer, J.F.7
Oswald, G.L.8
Symoens, S.9
Manouvrier, S.10
Roberts, A.E.11
Faravelli, F.12
Alba Greco, M.13
Pyeritz, R.E.14
Milewicz, D.M.15
Coucke, P.J.16
Cameron, D.E.17
Braverman, A.C.18
Byers, P.H.19
De Paepe, A.M.20
Dietz, H.C.21
more..
-
21
-
-
0018906549
-
Anesthetic considerations for Ehlers-Danlos syndrome
-
DOI 10.1097/00000542-198003000-00015
-
Dolan P, Sisko F, Riley E. Anesthetic considerations for Ehlers-Danlos syndrome. Anesthesiology 1980;52:266-269. (Pubitemid 10176869)
-
(1980)
Anesthesiology
, vol.52
, Issue.3
, pp. 266-269
-
-
Dolan, P.1
Sisko, F.2
Riley, E.3
-
22
-
-
78049527006
-
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: A prospective randomised, open, blinded-endpoints trial
-
This study is a multicenter trial involving 53 patients, one group randomized to celiprolol and the other group to no treatment. Over a median followup of 47 months, celiprolol decreased the incidence of arterial rupture by three times. This was independent of any changes in hemodynamic variables such as heart rate or blood pressure
-
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. This study is a multicenter trial involving 53 patients, one group randomized to celiprolol and the other group to no treatment. Over a median followup of 47 months, celiprolol decreased the incidence of arterial rupture by three times. This was independent of any changes in hemodynamic variables such as heart rate or blood pressure.
-
(2010)
Lancet
, vol.376
, pp. 1476-1484
-
-
Ong, K.T.1
Perdu, J.2
De Backer, J.3
-
23
-
-
72549087520
-
Contemporary management of vascular complications associated with Ehlers-Danlos syndrome
-
discussion 138-139. This study is a single institution review of their experience in treating patients with the various subtypes of Ehlers-Danlos syndrome including vascular EDS. The contemporary results show that successful surgical outcomes open surgery and endovascular therapies can be achieved in patients with the disease. Specific surgical techniques pertinent to vascular EDS are discussed
-
Brooke BS, Arnaoutakis G, McDonnell NB, et al. Contemporary management of vascular complications associated with Ehlers-Danlos syndrome. J Vasc Surg 2010;51:131-138; discussion 138-139. This study is a single institution review of their experience in treating patients with the various subtypes of Ehlers-Danlos syndrome including vascular EDS. The contemporary results show that successful surgical outcomes (open surgery and endovascular therapies) can be achieved in patients with the disease. Specific surgical techniques pertinent to vascular EDS are discussed.
-
(2010)
J Vasc Surg
, vol.51
, pp. 131-138
-
-
Brooke, B.S.1
Arnaoutakis, G.2
McDonnell, N.B.3
-
24
-
-
0029918535
-
Ehlers-Danlos type IV syndrome: A review from a vascular surgical point of view
-
Bergqvist D. Ehlers-Danlos type IV syndrome: a review from a vascular surgical point of view. Eur J Surg 1996;162:163-170.
-
(1996)
Eur J Surg
, vol.162
, pp. 163-170
-
-
Bergqvist, D.1
-
25
-
-
0029780318
-
The surgical complications of Ehlers-Danlos syndrome
-
Freeman RK, Swegle J, Sise MJ. The surgical complications of Ehlers-Danlos syndrome. Am Surg 1996;62:869-873. (Pubitemid 126751381)
-
(1996)
American Surgeon
, vol.62
, Issue.10
, pp. 869-873
-
-
Freeman, R.K.1
Swegle, J.2
Sise, M.J.3
-
26
-
-
0023102368
-
Spontaneous arterial perforation: The Ehlers-Danlos specter
-
DOI 10.1067/mva.1987.avs0050248
-
Cikrit DF, Miles JH, Silver D. Spontaneous arterial perforation: the Ehlers-Danlos specter. J Vasc Surg 1987;5:248-255. (Pubitemid 17034837)
-
(1987)
Journal of Vascular Surgery
, vol.5
, Issue.2
, pp. 248-255
-
-
Cikrit, D.F.1
Miles, J.H.2
Silver, D.3
-
27
-
-
0036292385
-
Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: Two case reports and a review of the literature
-
Chuman H, Trobe JD, Petty EM, et al. Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature. J Neuroophthalmol 2002;22:75-81. (Pubitemid 34693862)
-
(2002)
Journal of Neuro-Ophthalmology
, vol.22
, Issue.2
, pp. 75-81
-
-
Chuman, H.1
Trobe, J.D.2
Petty, E.M.3
Schwarze, U.4
Pepin, M.5
Byers, P.H.6
Deveikis, J.P.7
-
28
-
-
43049083327
-
Thoracic aortic endografting in patients with connective tissue diseases
-
DOI 10.1583/07-2286.1
-
Geisbusch P, Kotelis D, Von Tengg-Kobligk H, et al. Thoracic aortic endografting in patients with connective tissue diseases. J Endovasc Ther 2008;15:144-149. (Pubitemid 351628565)
-
(2008)
Journal of Endovascular Therapy
, vol.15
, Issue.2
, pp. 144-149
-
-
Geisbusch, P.1
Kotelis, D.2
Von Tengg-Kobligk, H.3
Hyhlik-Durr, A.4
Allenberg, J.-R.5
Bockler, D.6
-
29
-
-
34548073350
-
Endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome
-
DOI 10.1016/j.jvs.2007.03.045, PII S0741521407005228
-
Bade MA, Queral LA, Mukherjee D, et al. Endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome. J Vasc Surg 2007;46:360-362. (Pubitemid 47411484)
-
(2007)
Journal of Vascular Surgery
, vol.46
, Issue.2
, pp. 360-362
-
-
Bade, M.A.1
Queral, L.A.2
Mukherjee, D.3
Kong, L.S.4
-
30
-
-
0030866787
-
Current status of thoracoabdominal aortic aneurysm repair in Marfan syndrome
-
Coselli JS, LeMaire SA. Current status of thoracoabdominal aortic aneurysm repair in Marfan syndrome. J Card Surg 1997;12(2 Suppl):167-172.
-
(1997)
J Card Surg
, vol.12
, Issue.2 SUPPL.
, pp. 167-172
-
-
Coselli, J.S.1
LeMaire, S.A.2
-
31
-
-
37049006992
-
Expert consensus document on the treatment of descending thoracic aortic disease using endovascular stentgrafts
-
Svensson L, Kouchoukos N, Miller D, et al. Expert consensus document on the treatment of descending thoracic aortic disease using endovascular stentgrafts. Ann Thorac Surg 2008;85:S1-S41.
-
(2008)
Ann Thorac Surg
, vol.85
-
-
Svensson, L.1
Kouchoukos, N.2
Miller, D.3
-
32
-
-
0023256631
-
Pregnancy management and successful outcome of Ehlers-Danlos syndrome type IV
-
Weinbaum PJ, Cassidy SB, Campbell WA, et al. Pregnancy management and successful outcome of Ehlers-Danlos syndrome type IV. Am J Perinatol 1987;4:134-137. (Pubitemid 17066211)
-
(1987)
American Journal of Perinatology
, vol.4
, Issue.2
, pp. 134-137
-
-
Weinbaum, P.J.1
Cassidy, S.B.2
Campbell, W.A.3
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