-
1
-
-
0026606310
-
Molecular nosology of heritable disorders of connective tissues
-
Beighton P, De Paepe A, Hal JG et al (1992) Molecular nosology of heritable disorders of connective tissues. Am J Med Genet 42:431-448
-
(1992)
Am J Med Genet
, vol.42
, pp. 431-448
-
-
Beighton, P.1
De Paepe, A.2
Hal, J.G.3
-
2
-
-
0023917651
-
International nosology of heritable disorders of connective tissue, Berlin 1986
-
Beighton P, De Paepe A, Danks D et al (1988) International nosology of heritable disorders of connective tissue, Berlin 1986. Am J Med Genet 29:581-594
-
(1988)
Am J Med Genet
, vol.29
, pp. 581-594
-
-
Beighton, P.1
De Paepe, A.2
Danks, D.3
-
3
-
-
0032574641
-
Ehlers-Danlos syndrome: Revised nosology
-
Beighton P, de Paepe A, Steinmann B, Tsipuoras P, Wenstrup RJ (1998) Ehlers-Danlos syndrome: revised nosology. Am J Med Genet 77:31-37
-
(1998)
Am J Med Genet
, vol.77
, pp. 31-37
-
-
Beighton, P.1
De Paepe, A.2
Steinmann, B.3
Tsipuoras, P.4
Wenstrup, R.J.5
-
4
-
-
2442672684
-
Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl
-
DOI 10.1007/s00431-004-1407-z
-
Brunk I, Stover B, Ikonomidou C, Brinckmann J, Neumann L (2004) Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-years-old girl. Eur J of Pediatrics 163(4-5):214-217 (Pubitemid 38657171)
-
(2004)
European Journal of Pediatrics
, vol.163
, Issue.4-5
, pp. 214-217
-
-
Brunk, I.1
Stover, B.2
Ikonomidou, C.3
Brinckmann, J.4
Neumann, L.M.5
-
5
-
-
0004941064
-
Ehlers-Danlos syndrome
-
Rimoin DI, Commor JM, Pyeritz RE (eds) 3rd edn. Churchill Livingstone, New York
-
Byers PH (1997) Ehlers-Danlos syndrome. In: Rimoin DI, Commor JM, Pyeritz RE (eds) Energy and Rimoin's principles and practice of medical genetics, 3rd edn. Churchill Livingstone, New York, pp 1067-1081
-
(1997)
Energy and Rimoin's Principles and Practice of Medical Genetics
, pp. 1067-1081
-
-
Byers, P.H.1
-
6
-
-
0029120801
-
Integrins and modulation of transmitter release from motor nerve terminals by stretch
-
Chen BM, Grinnel AD (1995) Integrins and modulation of transmitter release from motor nerve terminals by stretch. Science 269:1578-1580
-
(1995)
Science
, vol.269
, pp. 1578-1580
-
-
Chen, B.M.1
Grinnel, A.D.2
-
7
-
-
0033044879
-
Cortical malformations and epilepsy: New insights from animal models
-
DOI 10.1111/j.1528-1157.1999.tb00786.x
-
Chevassus-au-Louis N, Baraban SC, Gaiarsa JL, Ben-Ari Y (1999) Cortical malformations and epilepsy: new insight from animal models. Epilepsia 40:811-821 (Pubitemid 29316034)
-
(1999)
Epilepsia
, vol.40
, Issue.7
, pp. 811-821
-
-
Chevassus-Au-Louis, N.1
Baraban, S.C.2
Gaiarsa, J.-L.3
Ben-Ari, Y.4
-
8
-
-
0019821014
-
Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias
-
Cupo LN, Pyeritz RE, Olson JL (1981) Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphisema and cerebral heterotopias. Am J Med 71:1051-1058 (Pubitemid 12191989)
-
(1981)
American Journal of Medicine
, vol.71
, Issue.6
, pp. 1051-1058
-
-
Cupo, L.N.1
Pyeritz, R.E.2
Olson, J.L.3
-
9
-
-
0002833215
-
Un cas de cutis laxa avec tumeurs pur contusion chronique des coudes et des genous
-
Danlos EA (1908) Un cas de cutis laxa avec tumeurs pur contusion chronique des coudes et des genous. Bull Soc Franc Dermatol Syphiligr 19:70-72
-
(1908)
Bull Soc Franc Dermatol Syphiligr
, vol.19
, pp. 70-72
-
-
Danlos, E.A.1
-
10
-
-
0015549101
-
Neuralgic amyotrophy in identical twins with Ehlers-Danlos syndrome
-
De Graaf AS (1973) Neuralgic amyotrophy in identical twins with Ehlers-Danlos syndrome. Eur Neurol 9:190-196
-
(1973)
Eur Neurol
, vol.9
, pp. 190-196
-
-
De Graaf, A.S.1
-
11
-
-
0030245595
-
Three cases of spontaneous direct carotid cavernous fistulas associated with Ehlers-Danlos syndrome type IV
-
DOI 10.1016/0090-3019(95)00408-4
-
Debrun GM, AletichVA MillerNR, DeKeiset RJW (1996) Three cases of spontaneous direct carotid cavernous fistulas associated with Ehlers-Danlos syndrome type IV. Surg Neurol 46:247-252 (Pubitemid 26299062)
-
(1996)
Surgical Neurology
, vol.46
, Issue.3
, pp. 247-252
-
-
Debrun, G.M.1
Aletich, V.A.2
Miller, N.R.3
DeKeiser, R.J.W.4
-
12
-
-
20444447726
-
Ehlers- Danlos syndrome type IV and recurrent carotid-cavernous fistula. Review of the literature, endovascular approach, technique and difficulties
-
Desal H, Toulgoat F, Raoul S, Guillon B, Bommard S, Naudou-Giron E, Auffray-Calvier E, de Kersaint-Gilly A (2005) Ehlers- Danlos syndrome type IV and recurrent carotid-cavernous fistula. Review of the literature, endovascular approach, technique and difficulties. Neuroradiology 47:300-304
-
(2005)
Neuroradiology
, vol.47
, pp. 300-304
-
-
Desal, H.1
Toulgoat, F.2
Raoul, S.3
Guillon, B.4
Bommard, S.5
Naudou-Giron, E.6
Auffray-Calvier, E.7
De Kersaint-Gilly, A.8
-
13
-
-
0033970932
-
Bilateral focal polymicrogyria in Ehlers-Danlos syndrome
-
Echaniz-laguna A, de Saint-Martin A, Lafontaine AL, Tasch E, Thomas P, Hirsh E (2000) Bilateral focal polymicrogyria in Ehlers-Danlos syndrome. Arch Neurol 57:123-127 (Pubitemid 30027641)
-
(2000)
Archives of Neurology
, vol.57
, Issue.1
, pp. 123-127
-
-
Echaniz-Laguna, A.1
De Saint-Martin, A.2
Lafontaine, A.L.3
Tasch, E.4
Thomas, P.5
Hirsh, E.6
Marescaux, C.7
Andermann, F.8
-
14
-
-
0014667074
-
Ehlers-Danlos syndrome with vertebral artery aneurysm
-
Edwards A, Taylor GW (1969) Ehlers-Danlos syndrome with vertebral artery aneurysm. Proc R Soc Med 62:734-735
-
(1969)
Proc R Soc Med
, vol.62
, pp. 734-735
-
-
Edwards, A.1
Taylor, G.W.2
-
15
-
-
0000284894
-
Danische dermatologische Gesellschaft 15. Sitzung vom 15 Dezember 1900
-
Ehlers E (1901) Danische dermatologische Gesellschaft 15. Sitzung vom 15 Dezember 1900. Dermatol Z 8:173-175
-
(1901)
Dermatol Z
, vol.8
, pp. 173-175
-
-
Ehlers, E.1
-
16
-
-
0030027091
-
Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development
-
DOI 10.1016/S0896-6273(00)80025-2
-
Eksioglu Y, Scheffer IE, Cardenas P (1996) Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 16:77-87 (Pubitemid 26044731)
-
(1996)
Neuron
, vol.16
, Issue.1
, pp. 77-87
-
-
Eksioglu, Y.Z.1
Scheffer, I.E.2
Cardenas, P.3
Knoll, J.4
DiMario, F.5
Ramsby, G.6
Berg, M.7
Kamuro, K.8
Berkovic, S.F.9
Duyk, G.M.10
Parisi, J.11
Huttenlocher, P.R.12
Walsh, C.A.13
-
17
-
-
0026062288
-
Acute brachial plexus neuropathy secondary to halo-gravity traction in a patient with Ehlers-Danlos syndrome
-
El-Shaker M, Watts HG (1991) Acute brachial plexus neuropathy secondary to halo-gravity traction in a patient with Ehlers-Danlos syndrome. Spine 16:385-386
-
(1991)
Spine
, vol.16
, pp. 385-386
-
-
El-Shaker, M.1
Watts, H.G.2
-
18
-
-
13844296552
-
Polymicrogyrie bifrontale et syndrome d'Ehlers-Danlos
-
DOI 10.1016/j.arcped.2004.11.021
-
Ezzeddine H, Sabourand P, Eschard C, El Tourjuman O, Bednarek N, Motte J (2005) Bilateral frontal polymicrogyria and Ehlers-Danlos syndrome. Arch de Pediatrie 12:173-175 (Pubitemid 40247605)
-
(2005)
Archives de Pediatrie
, vol.12
, Issue.2
, pp. 173-175
-
-
Ezzeddine, H.1
Sabouraud, P.2
Eschard, C.3
El, T.O.4
Bednarek, N.5
Motte, J.6
-
19
-
-
0024516643
-
Ehlers-Danlos syndrome: A new oculo-scoliotic type with associated polyneuropathy?
-
Farag TI, Schimke RN (1989) Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy? Clin Genet 35:121-124
-
(1989)
Clin Genet
, vol.35
, pp. 121-124
-
-
Farag, T.I.1
Schimke, R.N.2
-
20
-
-
0032422555
-
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human Periventricular heterotopia
-
DOI 10.1016/S0896-6273(00)80651-0
-
Fox JW, Lamperti ED, Ekşioǧlu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA (1998) Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21:1315-1325 (Pubitemid 29022534)
-
(1998)
Neuron
, vol.21
, Issue.6
, pp. 1315-1325
-
-
Fox, J.W.1
Lamperti, E.D.2
Eksioglu, Y.Z.3
Hong, S.E.4
Feng, Y.5
Graham, D.A.6
Scheffer, I.E.7
Dobyns, W.B.8
Hirsch, B.A.9
Radtke, R.A.10
Berkovic, S.F.11
Huttenlocher, P.R.12
Walsh, C.A.13
-
21
-
-
0034011492
-
Arterial tortuosity syndrome
-
DOI 10.1002/(SICI)1096-8628(20000313)91:2<141::AID-AJMG13>3.0.CO;2- 6
-
Franceschini P, Guala A, Licata D, Di Cara G, Franceschini D (2000) Arterial tortuosity syndrome. Am J Med Genet 91:141-143 (Pubitemid 30133653)
-
(2000)
American Journal of Medical Genetics
, vol.91
, Issue.2
, pp. 141-143
-
-
Franceschini, P.1
Guala, A.2
Licata, D.3
Di, C.G.4
Franceschini, D.5
-
22
-
-
0029013428
-
Peripheral Neuropathy in Elhers-Danlos syndrome
-
Galan E, Koussef BG (1995) Peripheral Neuropathy in Elhers-Danlos syndrome. Pediatr Neurol 12:242-245
-
(1995)
Pediatr Neurol
, vol.12
, pp. 242-245
-
-
Galan, E.1
Koussef, B.G.2
-
23
-
-
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
-
Gloviczki P, Oderich G, Panneton JM, Thomas C, Bower TC, Noralane M, Lindor NM, Kennet JC, Cherry J, Noel AA, Kalra M, Sullivan T (2005) The spectrum, management and clinical outcome of Ehlers-Danlos syndorme type IV: a 30-year experience. J Vasc Surg 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
-
24
-
-
0034081859
-
Hypermobility-not a circ act
-
Grahame R (2000) Hypermobility-not a circ act. Int J Clin Pract 54(5):314-315
-
(2000)
Int J Clin Pract
, vol.54
, Issue.5
, pp. 314-315
-
-
Grahame, R.1
-
25
-
-
0033846458
-
A rare case of head injury associated with Ehlers-Danlos Syndrome
-
PII S0020138300000656
-
Gupta P, Gleeson AP (2000) A rare case of head injury associated with Ehlers-Danlos syndrome. Injury Int J Care Injured 31:641-643 (Pubitemid 30662430)
-
(2000)
Injury
, vol.31
, Issue.8
, pp. 641-643
-
-
Gupta, P.1
Gleeson, A.P.2
-
26
-
-
0025297015
-
Treatment of carotid-cavernous fistulas associated with Ehlers-Danlos syndrome
-
Halbach VV, Higashida RT, Dowd CF, Barnwell SL, Hieshima GB (1990) Treatment of carotid cavernous fistulas associated with Ehlers-Danlos syndrome. Neurosurgery 26:1021-1027 (Pubitemid 20183242)
-
(1990)
Neurosurgery
, vol.26
, Issue.6
, pp. 1021-1027
-
-
Halbach, V.V.1
Higashida, R.T.2
Dowd, C.F.3
Barnwell, S.L.4
Hieshima, G.B.5
-
27
-
-
0023005788
-
Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome
-
Hernández A, Aguirre-Negrete MG, González-Flores S, Reynoso-Luna MC, Fragoso R, Nazará Z, Tapia-Arizmendi G, Cantú JM (1986) Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome. Clin Genet 30(6):456-461
-
(1986)
Clin Genet
, vol.30
, Issue.6
, pp. 456-461
-
-
Hernández, A.1
Aguirre-Negrete, M.G.2
González-Flores, S.3
Reynoso-Luna, M.C.4
Fragoso, R.5
Nazará, Z.6
Tapia-Arizmendi, G.7
Cantú, J.M.8
-
28
-
-
4243313137
-
Ehlers-Danlos syndrome and epilepsy: A case study
-
Herrero F (1995) Ehlers-Danlos syndrome and epilepsy: a case study. Epilepsia 36(3):240
-
(1995)
Epilepsia
, vol.36
, Issue.3
, pp. 240
-
-
Herrero, F.1
-
29
-
-
0030015430
-
Transcranial Doppler sonography in a patient with Ehlers-Danlos syndrome: Case report
-
Holzschuch M, Woerrgen C, Brawanski A (1996) Transcranial Doppler sonography in a patient with Ehlers-Danlos syndrome: case report. Neurosurgery 39:170-172
-
(1996)
Neurosurgery
, vol.39
, pp. 170-172
-
-
Holzschuch, M.1
Woerrgen, C.2
Brawanski, A.3
-
30
-
-
0020059304
-
Vascular manifestations in patients with Ehlers-Danlos syndrome
-
Hunter GC, Malone JM, Moore WS, Misiarowski DL, Chvapli M (1982) Vascular manifestations in patients with Ehlers-Danlos syndrome. Arch Surg 117:495-498 (Pubitemid 12127439)
-
(1982)
Archives of Surgery
, vol.117
, Issue.4
, pp. 495-498
-
-
Hunter, G.C.1
Malone, J.M.2
Moore, W.S.3
-
31
-
-
0032963264
-
Epilepy in Ehlers-Danlos syndrome
-
Jacome DE (1999) Epilepy in Ehlers-Danlos syndrome. Epilepsia 19:467-473
-
(1999)
Epilepsia
, vol.19
, pp. 467-473
-
-
Jacome, D.E.1
-
32
-
-
0032751324
-
Headache in Ehlers-Danlos syndrome
-
Jacome DE (1999) Headache in Ehlers-Danlos syndrome. Chefalalgia 19:791-796
-
(1999)
Chefalalgia
, vol.19
, pp. 791-796
-
-
Jacome, D.E.1
-
33
-
-
0000280101
-
The structure of the connective tissue, an explanation of the symptoms of Ehlers-Danlos syndrome
-
Jansen LH (1955) The structure of the connective tissue, an explanation of the symptoms of Ehlers-Danlos syndrome. Dermatologica 110:108-120
-
(1955)
Dermatologica
, vol.110
, pp. 108-120
-
-
Jansen, L.H.1
-
34
-
-
0012476248
-
Ehlers-Danlos syndrome: A clinical and genetic study
-
Johnson SAM (1949) Ehlers-Danlos syndrome: a clinical and genetic study. Arch Dermatol Syph 60:82-105
-
(1949)
Arch Dermatol Syph
, vol.60
, pp. 82-105
-
-
Johnson, S.A.M.1
-
35
-
-
0018578762
-
Acute multiple brachial neuropathy and Ehlers-Danlos syndrome
-
Kayed K, Kass B (1979) Acute multiple brachial neuropathy and Ehlers-Danlos syndrome. Neurology 29:1620-1621 (Pubitemid 10190471)
-
(1979)
Neurology
, vol.29
, Issue.12
, pp. 1620-1621
-
-
Kayed, K.1
Kass, B.2
-
36
-
-
77952757738
-
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations
-
Kosho T, Miyake N, Hatamochi A et al (2010) A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. Am J Med Genet 152A(6):1333-1346
-
(2010)
Am J Med Genet
, vol.152 A
, Issue.6
, pp. 1333-1346
-
-
Kosho, T.1
Miyake, N.2
Hatamochi, A.3
-
37
-
-
0020632385
-
Vascular complications in the Ehlers-Danlos syndrome
-
Krog M, Almgren B, Eriksson I, Nordstrom S (1983) Vascular complications in the Ehlers-Danlos syndrome. Acta Chir Scand 149:279-282 (Pubitemid 13095961)
-
(1983)
Acta Chirurgica Scandinavica
, vol.149
, Issue.3
, pp. 279-282
-
-
Krog, M.1
Almgren, B.2
Eriksson, I.3
Nordstrom, S.4
-
38
-
-
0014639259
-
Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries
-
Lees MH, Menashe VD, Sunderland CO (1969) Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries. J Pediatr 75(6):1031-1036
-
(1969)
J Pediatr
, vol.75
, Issue.6
, pp. 1031-1036
-
-
Lees, M.H.1
Menashe, V.D.2
Sunderland, C.O.3
-
39
-
-
0027960417
-
Psychosocial functioning in the Ehelrs-Danlos syndrome
-
Lumley MA, Jordan M, Rubinstein R, Tsipouras P, Evans MI (1994) Psychosocial functioning in the Ehelrs-Danlos syndrome. Am J Med Genet 53:149-152
-
(1994)
Am J Med Genet
, vol.53
, pp. 149-152
-
-
Lumley, M.A.1
Jordan, M.2
Rubinstein, R.3
Tsipouras, P.4
Evans, M.I.5
-
40
-
-
27344450215
-
Neurological manifestations of Ehlers-Danlos syndrome
-
Mathew T, Sinha S, Taly AB, Arunodaya GR, Srikanth SG (2005) Neurological manifestations of Ehlers-Danlos syndrome. Neurol India 53(3):339-341 (Pubitemid 41526852)
-
(2005)
Neurology India
, vol.53
, Issue.3
, pp. 339-341
-
-
Mathew, T.1
Sinha, S.2
Taly, A.B.3
Arunodaya, G.R.4
Srikanth, S.G.5
-
42
-
-
0018392970
-
Multiple aneurysms in a patient with Ehlers-Danlos syndrome: Angiography without sequelae
-
Mirza FH, Smith PL, Lim WN (1979) Multiple aneurysms in a patient with Ehlers-Danlos syndrome: angiography without sequelae. Am J Radiol 132:993-995 (Pubitemid 9189732)
-
(1979)
American Journal of Roentgenology
, vol.132
, Issue.6
, pp. 993-995
-
-
Mirza, F.H.1
Smith, P.L.2
Lim, W.N.3
-
43
-
-
77955073599
-
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome
-
doi:10.1002/humu.21300
-
Miyake N, Kosho T, Mizumoto S et al (2010) Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Human Mutate 31(8):966-974. doi:10.1002/humu.21300
-
(2010)
Human Mutate
, vol.31
, Issue.8
, pp. 966-974
-
-
Miyake, N.1
Kosho, T.2
Mizumoto, S.3
-
44
-
-
0019492370
-
Atlanto-axial, atlanto-occipital dislocations, developmental cervical canal stenosis in the Ehlers-Danlos syndrome
-
Nagashima C, Tsuji R, Kubota M, Tajima J (1981) Atlanto-axial, atlanto-occipital dislocations, development canal stenosis in the Ehlers-Danlos syndrome. No Shinkei geka 9:601-608 (Pubitemid 11074754)
-
(1981)
Neurological Surgery
, vol.9
, Issue.5
, pp. 601-608
-
-
Nagashima, C.1
Tsuji, R.2
Kubota, S.3
Tajima, K.4
-
45
-
-
0029609683
-
Cerebrovascular complications in Ehlers-Danlos syndrome type IV
-
DOI 10.1002/ana.410380620
-
North KN, Whiteman DA, Pepin MG, Byers PH (1995) Cerebrovascular complications in Ehlers-Danlos syndrome type IV. Ann Neurol 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
-
46
-
-
0019569518
-
Brachial neuropathy and Ehlers-Danlos syndrome
-
Papapetropoulos T, Tsankanikas C (1981) Brachial neuropathy and Ehlers-Danlos syndrome. Neurology 31:642-643
-
(1981)
Neurology
, vol.31
, pp. 642-643
-
-
Papapetropoulos, T.1
Tsankanikas, C.2
-
47
-
-
0034054910
-
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
-
DOI 10.1056/NEJM200003093421001
-
Pepin M, Schwarze U, Superti-Fuga A, Byers PH (2000) Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Eng J Med 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
-
48
-
-
0015502702
-
A heritable disorder of connective tissue: Hydroxylisine-deficient collagen disease
-
Pinnel SR, Krane SM, Kenzora JE, Glincher MJ (1972) A heritable disorder of connective tissue: hydroxylisine-deficient collagen disease. N Eng J Med 286:1013-1020
-
(1972)
N Eng J Med
, vol.286
, pp. 1013-1020
-
-
Pinnel, S.R.1
Krane, S.M.2
Kenzora, J.E.3
Glincher, M.J.4
-
49
-
-
0025911101
-
Molecular analysis of Ehlers-Danlos syndrome type II
-
Pope FM (1991) Molecular analysis of Ehlers-Danlos syndrome type II. Br J Rheumatol 30:163-166
-
(1991)
Br J Rheumatol
, vol.30
, pp. 163-166
-
-
Pope, F.M.1
-
50
-
-
0033736569
-
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: Neuroimaging findings
-
Pouassaint TY, Fox JW, Dobyns WB, Radke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA (2000) Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol 30:748-755
-
(2000)
Pediatr Radiol
, vol.30
, pp. 748-755
-
-
Pouassaint, T.Y.1
Fox, J.W.2
Dobyns, W.B.3
Radke, R.4
Scheffer, I.E.5
Berkovic, S.F.6
Barnes, P.D.7
Huttenlocher, P.R.8
Walsh, C.A.9
-
51
-
-
0020551256
-
Neurologic manifestation of Ehlers-Danlos syndrome
-
Pretorius ME, Butler IJ (1983) Neurologic manifestation of Ehlers-Danlos syndrome. Neurology 33:1087-1089
-
(1983)
Neurology
, vol.33
, pp. 1087-1089
-
-
Pretorius, M.E.1
Butler, I.J.2
-
52
-
-
0000210215
-
Ehlers-danlos syndrome
-
Goldmann L, Bennet JC (eds) 21st edn. Saunders, Philadelphia
-
Pyeritz RE (2000) Ehlers-danlos syndrome. In: Goldmann L, Bennet JC (eds) Cecil textbook of medicine, 21st edn. Saunders, Philadelphia, pp 1119-1120
-
(2000)
Cecil Textbook of Medicine
, pp. 1119-1120
-
-
Pyeritz, R.E.1
-
53
-
-
0028957255
-
Is neurally mediated hypotension an unrecognised cause of chronic fatige?
-
Rowe PC, Bou-Holaigah I, Kan JS, Calkins H (1995) Is neurally mediated hypotension an unrecognised cause of chronic fatige? Lancet 345:623-624
-
(1995)
Lancet
, vol.345
, pp. 623-624
-
-
Rowe, P.C.1
Bou-Holaigah, I.2
Kan, J.S.3
Calkins, H.4
-
54
-
-
0001023883
-
Ehelrs-Danlos syndrome associated with multiple intracranial aneurysms
-
Rubinstein MK, Cohen NH (1964) Ehelrs-Danlos syndrome associated with multiple intracranial aneurysms. Neurology 14:125-132
-
(1964)
Neurology
, vol.14
, pp. 125-132
-
-
Rubinstein, M.K.1
Cohen, N.H.2
-
55
-
-
0030810641
-
Chronic pain is a manifestation of the Ehlers-Danlos syndrome
-
DOI 10.1016/S0885-3924(97)00007-9, PII S0885392497000079
-
Sacheti A, Szemere J, Bernstein B, Tafas T, Schechter N (1997) Chronic pain is a manifestation of the Ehlers-Danlos syndrome. J Pain Symptom Manage 14:88-93 (Pubitemid 27323497)
-
(1997)
Journal of Pain and Symptom Management
, vol.14
, Issue.2
, pp. 88-93
-
-
Sacheti, A.1
Szemere, J.2
Bernstein, B.3
Tafas, T.4
Schechter, N.5
Tsipouras, P.6
-
56
-
-
0013520404
-
The extracellular matrix
-
Sakai LY (1995) The extracellular matrix. Sci Am 2:58-67
-
(1995)
Sci Am
, vol.2
, pp. 58-67
-
-
Sakai, L.Y.1
-
57
-
-
34249844790
-
Subependymal periventricular heterotopias in a patient with Ehlers-Danlos syndrome: A new case
-
DOI 10.1177/0883073807299857
-
Savasta S, Crispino M, Valli M, Calligaro A, Zambelloni C, Poggiani C (2007) Subependymal periventricular heterotopias in a patient with Ehlers-Danlos sindrome: a new case. J Child Neurol 22:317-320 (Pubitemid 46860562)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.3
, pp. 317-320
-
-
Savasta, S.1
Crispino, M.2
Valli, M.3
Calligaro, A.4
Zambelloni, C.5
Poggiani, C.6
-
58
-
-
79953835727
-
Ehlers-Danlos syndromes
-
chapter 56 Ruggieri M, Castroviejo IP, Di Rocco C (eds) 1st edn. Springer Wien, New York
-
Savasta S, Valli M (2008) Ehlers-Danlos syndromes (chapter 56). In: Ruggieri M, Castroviejo IP, Di Rocco C (eds) Neurocutaneous Disorders, 1st edn. Springer Wien, New York, pp 887-906
-
(2008)
Neurocutaneous Disorders
, pp. 887-906
-
-
Savasta, S.1
Valli, M.2
-
59
-
-
0021498095
-
Ehlers-Danlos syndrome in association with tomaculous neuropathy
-
Schady W, Ochoa J (1984) Ehlers-Danlos syndrome in association with tomaculous neuropathy. Neurology 34:1270
-
(1984)
Neurology
, vol.34
, pp. 1270
-
-
Schady, W.1
Ochoa, J.2
-
60
-
-
0347601920
-
Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: A prospective study
-
Schievink WI, Gordon OK, Tourje J (2003) Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study. Neurosurgery 54:65-71
-
(2003)
Neurosurgery
, vol.54
, pp. 65-71
-
-
Schievink, W.I.1
Gordon, O.K.2
Tourje, J.3
-
61
-
-
0025271687
-
Cerebrovascular disease in Ehlers-Danlos syndrome type IV
-
Schievink WI, Limburg M, Oorthuys JW, Fleury P, Pope FM (1990) Cerebrovascular disease in Ehlers-Danlos syndrome type IV. Stroke 21:626-632 (Pubitemid 20141888)
-
(1990)
Stroke
, vol.21
, Issue.4
, pp. 626-632
-
-
Schievink, W.I.1
Limburg, M.2
Oorthuys, J.W.E.3
Fleury, P.4
Pope, F.M.5
-
62
-
-
0025892740
-
Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome type IV
-
Schievink WI, Piepgras DG, Earnest VE, Gordon H (1991) Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome type IV. J Neurosurg 74:991-998
-
(1991)
J Neurosurg
, vol.74
, pp. 991-998
-
-
Schievink, W.I.1
Piepgras, D.G.2
Earnest, V.E.3
Gordon, H.4
-
63
-
-
0014047872
-
Bilateral spontaneous carotidcavernous fistulae in Ehlers-Danlos syndrome
-
Scholman A, Kepes JJ (1967) Bilateral spontaneous carotidcavernous fistulae in Ehlers-Danlos syndrome. J Neurosurg 26:82-86
-
(1967)
J Neurosurg
, vol.26
, pp. 82-86
-
-
Scholman, A.1
Kepes, J.J.2
-
64
-
-
76949112902
-
A case of Meekrin-Ehlers-Danlos syndrome with neurological manifestation
-
Shapiro SK (1952) A case of Meekrin-Ehlers-Danlos syndrome with neurological manifestation. J Nerv Ment Dis 115:64-71
-
(1952)
J Nerv Ment Dis
, vol.115
, pp. 64-71
-
-
Shapiro, S.K.1
-
65
-
-
19944432730
-
Filamin A mutation cause periventricular heterotopia with Ehlers- Danlos syndrome
-
Sheen VL, Jansen A, ChenMH, Parrini E,Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Guerrini R, Walsh CA (2005) Filamin A mutation cause periventricular heterotopia with Ehlers- Danlos syndrome. Neurology 64:254-262
-
(2005)
Neurology
, vol.64
, pp. 254-262
-
-
Sheen, V.L.1
Jansen, A.2
Chen, M.H.3
Parrini, E.4
Morgan, T.5
Ravenscroft, R.6
Ganesh, V.7
Underwood, T.8
Wiley, J.9
Leventer, R.10
Vaid, R.R.11
Ruiz, D.E.12
Hutchins, G.M.13
Menasha, J.14
Willner, J.15
Geng, Y.16
Gripp, K.W.17
Nicholson, L.18
Berry-Kravis, E.19
Bodell, A.20
Apse, K.21
Guerrini, R.22
Walsh, C.A.23
more..
-
66
-
-
84965023592
-
Congenital insensitivity to pain: A neurologic syndrome with bizarre skeletal lesions
-
Silverman FN, Gilden JJ (1959) Congenital insensitivity to pain: a neurologic syndrome with bizarre skeletal lesions. Radiology 72:176-190
-
(1959)
Radiology
, vol.72
, pp. 176-190
-
-
Silverman, F.N.1
Gilden, J.J.2
-
67
-
-
0002367822
-
The Ehlers-Danlos syndrome
-
Royce PM, Steinmann B (eds) Wiley-Liss, NewYork
-
Steinmann B, Royce PM, Superti-Furga A (1993) The Ehlers-Danlos syndrome. In: Royce PM, Steinmann B (eds) Connective tissues and its heritable disorders: molecular, genetic, and medical aspects. Wiley-Liss, NewYork, pp 351-407
-
(1993)
Connective Tissues and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects
, pp. 351-407
-
-
Steinmann, B.1
Royce, P.M.2
Superti-Furga, A.3
-
68
-
-
0033046789
-
Orthostatic intolerance in adolescent chronic fatigue syndrome
-
DOI 10.1542/peds.103.1.116
-
Stewart JM, Gewitz MH, Weldon A, Arlievsky N, Li K, Munoz J (1999) Orthostatic intolerance in adolescent chronic fatigue syndrome. Pediatrics 103:116-121 (Pubitemid 29281937)
-
(1999)
Pediatrics
, vol.103
, Issue.1
, pp. 116-121
-
-
Stewart, J.M.1
Gewitz, M.H.2
Weldon, A.3
Arlievsky, N.4
Li, K.5
Munoz, J.6
-
69
-
-
0029927897
-
Ehlers-Danlos syndrome with subependymal periventricular heterotopias
-
Thomas P, Bossan A, Lacour JP, Chanalet S, Ortone JP, Chatel M (1996) Ehlers-Danlos syndrome with subependimal periventricular heterotopias. Neurology 46:1165-1167 (Pubitemid 26134674)
-
(1996)
Neurology
, vol.46
, Issue.4
, pp. 1165-1167
-
-
Thomas, P.1
Bossan, A.2
Lacour, J.P.3
Chanalet, S.4
Ortonne, J.P.5
Chatel, M.6
-
71
-
-
67650074532
-
Neuromuscular involvement in various types of Ehlers-Danlos syndrome
-
Voermans NC, van Alfen N, Pillen S, Lammens M, Schalkwijk J, Zwarts MJ, van Rooij IA, Hamel BCJ, van Engelen BG (2009) Neuromuscular involvement in various types of Ehlers-Danlos syndrome. Ann Neurol 65:687-697
-
(2009)
Ann Neurol
, vol.65
, pp. 687-697
-
-
Voermans, N.C.1
Van Alfen, N.2
Pillen, S.3
Lammens, M.4
Schalkwijk, J.5
Zwarts, M.J.6
Van Rooij, I.A.7
Hamel, B.C.J.8
Van Engelen, B.G.9
-
72
-
-
77956401963
-
Pain in Ehlers-Danlos syndrome is common, severe, and associated with functional impairment
-
doi:10.1016/j.jpainsymman.2009.12.026
-
Voermans NV, Knoop H, Bleijenberg G, van Engelen BG (2010) Pain in Ehlers-Danlos syndrome is common, severe, and associated with functional impairment. J Pain Symptom Manage. doi:10.1016/j.jpainsymman.2009.12.026
-
(2010)
J Pain Symptom Manage
-
-
Voermans, N.V.1
Knoop, H.2
Bleijenberg, G.3
Van Engelen, B.G.4
-
73
-
-
0042377388
-
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar
-
Wahab AA, Janahi IA, Eltohami A, Zeid A, Haque NF, Teebi AS (2003) A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Acta Paediatr 92:456-462 (Pubitemid 37088475)
-
(2003)
Acta Paediatrica, International Journal of Paediatrics
, vol.92
, Issue.4
, pp. 456-462
-
-
Abdul, W.A.1
Janahi, I.A.2
Eltohami, A.3
Zeid, A.4
Ul, H.N.F.5
Teebi, A.S.6
-
74
-
-
0027172919
-
Mechanotransduction across the cell surface and through the cytoskeleton
-
Wang N, Butler JP, Ingber DE (1993) Mechanotransduction across the cell surface and through the cytoskeleton. Science 260:1124-1227
-
(1993)
Science
, vol.260
, pp. 1124-1227
-
-
Wang, N.1
Butler, J.P.2
Ingber, D.E.3
-
75
-
-
0024426610
-
Ehlers-Danlos syndrome type VI: Clinical manifestations of collagen lysyl hydroxylase deficiency
-
Wenstrup RJ, Murad S, Pinnel SR (1989) EDS type VI: clinical manifestation of collagen lysylhydroxylase deifciency. J Pediatr 115:405-409 (Pubitemid 19223174)
-
(1989)
Journal of Pediatrics
, vol.115
, Issue.3
, pp. 405-409
-
-
Wenstrup, R.J.1
Murad, S.2
Pinnell, S.R.3
-
77
-
-
14244261467
-
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13
-
DOI 10.1111/j.1399-0004.2004.00391.x
-
Zaidi SHE, Peltekova V, Meyer S, Lindinger A, Paterson AD, Tsui LC, Faiyaz-UI-Haque M, Teebi AS (2004) A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Clin Genet 67:183-188 (Pubitemid 40287527)
-
(2005)
Clinical Genetics
, vol.67
, Issue.2
, pp. 183-188
-
-
Zaidi, S.H.E.1
Peltekova, V.2
Meyer, S.3
Lindinger, A.4
Paterson, A.D.5
Tsui, L.-C.6
Faiyaz-Ul-Haque, M.7
Teebi, A.S.8
|