-
1
-
-
0024604248
-
Infarcts of undetermined cause: The NINCDS Stroke Data Bank
-
DOI 10.1002/ana.410250410
-
Sacco R. L., Ellenberg J. H., Mohr J. P., Tatemichi T. K., Hier D. B., Price T. R., Wolf P. A., Infarcts of undetermined cause: the NINCDS Stroke Da (Pubitemid 19104170)
-
(1989)
Annals of Neurology
, vol.25
, Issue.4
, pp. 382-390
-
-
Sacco, R.L.1
Ellenberg, J.H.2
Mohr, J.P.3
Tatemichi, T.K.4
Hier, D.B.5
Price, T.R.6
Wolf, P.A.7
-
2
-
-
33746440369
-
Research actuality in the genetics of stroke
-
DOI 10.1080/10641960600549066, PII H75767334PK2P205
-
Orlacchio A., Bernardi G., Research actuality in the genetics of stroke Clinical and Experimental Hypertension 2006 28 3-4 191 197 (Pubitemid 44178489)
-
(2006)
Clinical and Experimental Hypertension
, vol.28
, Issue.3-4
, pp. 191-197
-
-
Orlacchio, A.1
Bernardi, G.2
-
3
-
-
0033843087
-
Genetics and ischaemic stroke
-
Hassan A., Markus H. S., Genetics and ischaemic stroke Brain 2000 123 9 1784 1812 (Pubitemid 30664283)
-
(2000)
Brain
, vol.123
, Issue.9
, pp. 1784-1812
-
-
Hassan, A.1
Markus, H.S.2
-
5
-
-
0035068434
-
Collagens and collagen-related diseases
-
Myllyharju J., Kivirikko K. I., Collagens and collagen-related diseases Annals of Medicine 2001 33 1 7 21 (Pubitemid 32238752)
-
(2001)
Annals of Medicine
, vol.33
, Issue.1
, pp. 7-21
-
-
Myllyharju, J.1
Kivirikko, K.I.2
-
6
-
-
0033783405
-
Genetic disorders of the elastic fiber system
-
Milewicz D. M., Urbn Z., Boyd C., Genetic disorders of the elastic fiber system Matrix Biology 2000 19 6 471 480
-
(2000)
Matrix Biology
, vol.19
, Issue.6
, pp. 471-480
-
-
Milewicz, D.M.1
Urbn, Z.2
Boyd, C.3
-
8
-
-
0032574641
-
Ehlers-danlos syndromes: Revised nosology
-
Beighton P., De Paepe A., Steinmann B., Tsipouras P., Wenstrup R. J., Ehlers-danlos syndromes: revised nosology American Journal of Medical Genetics 1998 77 1 31 37
-
(1998)
American Journal of Medical Genetics
, vol.77
, Issue.1
, pp. 31-37
-
-
Beighton, P.1
De Paepe, A.2
Steinmann, B.3
Tsipouras, P.4
Wenstrup, R.J.5
-
9
-
-
0026606310
-
Molecular nosology of heritable disorders of connective tissue
-
Beighton P., De Paepe A., Hall J. G., Hollister D. W., Pope F. M., Pyeritz R. E., Steinmann B., Tsipouras P., Molecular nosology of heritable disorders of connective tissue American Journal of Medical Genetics 1992 42 4 431 448
-
(1992)
American Journal of Medical Genetics
, vol.42
, Issue.4
, pp. 431-448
-
-
Beighton, P.1
De Paepe, A.2
Hall, J.G.3
Hollister, D.W.4
Pope, F.M.5
Pyeritz, R.E.6
Steinmann, B.7
Tsipouras, P.8
-
10
-
-
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 G. S., Panneton J. M., Bower T. C., Lindor N. M., Cherry K. J., Noel A. A., Kalra M., Sullivan T., Gloviczki P., The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience Journal of Vascular Surgery 2005 42 1 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
-
11
-
-
79953813324
-
Ehlers-Danlos syndrome and neurological features: A review
-
In press
-
Savasta S., Merli P., Ruggieri M., Bianchi L., Spart M. V., Ehlers-Danlos syndrome and neurological features: a review. Child's Nervous System. In press
-
Child's Nervous System
-
-
Savasta, S.1
Merli, P.2
Ruggieri, M.3
Bianchi, L.4
Spart, M.V.5
-
12
-
-
0029609683
-
Cerebrovascular complications in Ehlers-Danlos syndrome type IV
-
DOI 10.1002/ana.410380620
-
North K. N., Whiteman D. A. H., Pepin M. G., Byers P. H., Cerebrovascular complications in Ehlers-Danlos syndrome type IV Annals of Neurology 1995 38 6 960 964 (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
-
13
-
-
0025271687
-
Cerebrovascular disease in Ehlers-Danlos syndrome type IV
-
Schievink W. I., Limburg M., Oorthuys J. W. E., Fleury P., Pope F. M., Cerebrovascular disease in Ehlers-Danlos syndrome type IV Stroke 1990 21 4 626 632 (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
-
15
-
-
0018392970
-
Multiple aneurysms in a patient with Ehlers-Danlos syndrome: Angiography without sequelae
-
Mirza F. H., Smith P. L., Lim W. N., Multiple aneurysms in a patient with Ehlers-Danlos syndrome: angiography without sequelae American Journal of Roentgenology 1979 132 6 993 995 (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
-
16
-
-
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., Byers P. H., Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type New England Journal of Medicine 2000 342 10 673 680 (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
-
17
-
-
0001023883
-
EhlersDanlos syndrome associated with multiple intracranial aneurysms
-
RUBINSTEIN M. K., COHEN N. H., EhlersDanlos syndrome associated with multiple intracranial aneurysms Neurology 1964 14 125 132
-
(1964)
Neurology
, vol.14
, pp. 125-132
-
-
Rubinstein, M.K.1
Cohen, N.H.2
-
18
-
-
0014047872
-
Bilateral spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome. Case report
-
Schoolman A., Kepes J. J., Bilateral spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome. Case report Journal of Neurosurgery 1967 26 1 82 86
-
(1967)
Journal of Neurosurgery
, vol.26
, Issue.1
, pp. 82-86
-
-
Schoolman, A.1
Kepes, J.J.2
-
19
-
-
0029821022
-
Ehlers-Danlos syndrome with a spontaneous caroticocavernous fistula occluded by detachable balloon: Case report and review of literature
-
DOI 10.1007/s002340050316
-
Forlodou P., De Kersaint-Gilly A., Pizzanelli J., Viarouge M. P., Auffray-Calvier E., Ehlers-Danlos syndrome with a spontaneous caroticocavernous fistula occluded by detachable balloon: case report and review of literature Neuroradiology 1996 38 6 595 597 (Pubitemid 26288254)
-
(1996)
Neuroradiology
, vol.38
, Issue.6
, pp. 595-597
-
-
Forlodou, P.1
De Kersaint-Gilly, A.2
Pizzanelli, J.3
Viarouge, M.P.4
Auffray-Calvier, E.5
-
20
-
-
20444447726
-
Ehlers-Danlos syndrome type IV and recurrent carotid-cavernous fistula: Review of the literature, endovascular approach, technique and difficulties
-
DOI 10.1007/s00234-005-1378-4
-
Desal H. A., Toulgoat F., Raoul S., Guillon B., Bommard S., Naudou-Giron E., Auffray-Calvier E., de Kersaint-Gilly A., Ehlers-Danlos syndrome type IV and recurrent carotid-cavernous fistula: review of the literature, endovascular approach, technique and difficulties Neuroradiology 2005 47 4 300 304 (Pubitemid 40823345)
-
(2005)
Neuroradiology
, vol.47
, Issue.4
, pp. 300-304
-
-
Desal, H.A.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
-
21
-
-
0014639259
-
Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries
-
Less M. H., Menashe V. D., Sunderland C. O., Morgan C. L., Dawson P. J., Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries The Journal of Pediatrics 1969 75 6 1031 1036
-
(1969)
The Journal of Pediatrics
, vol.75
, Issue.6
, pp. 1031-1036
-
-
Less, M.H.1
Menashe, V.D.2
Sunderland, C.O.3
Morgan, C.L.4
Dawson, P.J.5
-
22
-
-
0036753529
-
Operative and endovascular management of extracranial vertebral artery aneurysm in Ehlers-Danlos syndrome: A clinical dilemma - Case report and literature review
-
Sultan S., Morasch M., Colgan M. P., Madhavan P., Moore D., Shanik G., Operative and endovascular management of extracranial vertebral artery aneurysm in Ehlers-Danlos syndrome: a clinical dilemmacase report and literature review Vascular and Endovascular Surgery 2002 36 5 389 392 (Pubitemid 35278373)
-
(2002)
Vascular and Endovascular Surgery
, vol.36
, Issue.5
, pp. 389-392
-
-
Sultan, S.1
Morasch, M.2
Colgan, M.-P.3
Madhavan, P.4
Moore, D.5
Shanik, G.6
-
23
-
-
0028116085
-
Vascular complications in Ehlers-Danlos syndrome
-
Mattar S. G., Kumar A. G., Lumsden A. B., Vascular complications in Ehlers-Danlos syndrome American Surgeon 1994 60 11 827 831 (Pubitemid 24345716)
-
(1994)
American Surgeon
, vol.60
, Issue.11
, pp. 827-831
-
-
Mattar, S.G.1
Kumar, A.G.2
Lumsden, A.B.3
-
24
-
-
0027494603
-
Type IV collagen: Structure, gene organization, and role in human diseases. Molecular basis of goodpasture and alport syndromes and diffuse leiomyomatosis
-
Hudson B. G., Reeders S. T., Tryggvason K., Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of goodpasture and alport syndromes and diffuse leiomyomatosis Journal of Biological Chemistry 1993 268 35 26033 26036 (Pubitemid 23361657)
-
(1993)
Journal of Biological Chemistry
, vol.268
, Issue.35
, pp. 26033-26036
-
-
Hudson, B.G.1
Reeders, S.T.2
Tryggvason, K.3
-
25
-
-
21044442223
-
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
-
DOI 10.1126/science.1109418
-
Gould D. B., Phalan F. C., Breedveld G. J., Van Mil S. E., Smith R. S., Schimenti J. C., Aguglia U., Van Der Knaap M. S., Heutink P., John S. W. M., Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly Science 2005 308 5725 1167 1171 (Pubitemid 40696433)
-
(2005)
Science
, vol.308
, Issue.5725
, pp. 1167-1171
-
-
Gould, D.B.1
Phalan, F.C.2
Breedveld, G.J.3
Van Mil, S.E.4
Smith, R.S.5
Schimenti, J.C.6
Aguglia, U.7
Van Der Knaap, M.S.8
Heutink, P.9
John, S.W.M.10
-
26
-
-
0037435523
-
Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy
-
Vahedi K., Massin P., Guichard J. P., Miocque S., Polivka M., Goutires F., Dress D., Chapon F., Ruchoux M. M., Riant F., Joutel A., Gaudric A., Bousser M. G., Tournier-Lasserve E., Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy Neurology 2003 60 1 57 63 (Pubitemid 36070644)
-
(2003)
Neurology
, vol.60
, Issue.1
, pp. 57-63
-
-
Vahedi, K.1
Massin, P.2
Guichard, J.-P.3
Miocque, S.4
Polivka, M.5
Goutieres, F.6
Dress, D.7
Chapon, F.8
Ruchoux, M.-M.9
Riant, F.10
Joutel, A.11
Gaudric, A.12
Bousser, M.-G.13
Tournier-Lasserve, E.14
-
27
-
-
33645498692
-
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
-
Gould D. B., Phalan F. C., Van Mil S. E., Sundberg J. P., Vahedi K., Massin P., Bousser M. G., Heutink P., Miner J. H., Tournier-Lasserve E., John S. W. M., Role of COL4A1 in small-vessel disease and hemorrhagic stroke New England Journal of Medicine 2006 354 14 1489 1496
-
(2006)
New England Journal of Medicine
, vol.354
, Issue.14
, pp. 1489-1496
-
-
Gould, D.B.1
Phalan, F.C.2
Van Mil, S.E.3
Sundberg, J.P.4
Vahedi, K.5
Massin, P.6
Bousser, M.G.7
Heutink, P.8
Miner, J.H.9
Tournier-Lasserve, E.10
John, S.W.M.11
-
28
-
-
77955173802
-
COL4A1 mutations as a monogenic cause of cerebral small vessel disease: A systematic review
-
Lanfranconi S., Markus H. S., COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review Stroke 2010 41 e513 e518
-
(2010)
Stroke
, vol.41
-
-
Lanfranconi, S.1
Markus, H.S.2
-
29
-
-
75349104289
-
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly
-
Shah S., Kumar Y., McLean B., Churchill A., Stoodley N., Rankin J., Rizzu P., van der Knaap M., Jardine P., A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly European Journal of Paediatric Neurology 2010 14 2 182 187
-
(2010)
European Journal of Paediatric Neurology
, vol.14
, Issue.2
, pp. 182-187
-
-
Shah, S.1
Kumar, Y.2
McLean, B.3
Churchill, A.4
Stoodley, N.5
Rankin, J.6
Rizzu, P.7
Van Der Knaap, M.8
Jardine, P.9
-
30
-
-
34247618247
-
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage
-
DOI 10.1161/STROKEAHA.106.475194, PII 0000767020070500000018
-
Vahedi K., Kubis N., Boukobza M., Arnoult M., Massin P., Tournier-Lasserve E., Bousser M. G., COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage Stroke 2007 38 5 1461 1464 (Pubitemid 46684145)
-
(2007)
Stroke
, vol.38
, Issue.5
, pp. 1461-1464
-
-
Vahedi, K.1
Kubis, N.2
Boukobza, M.3
Arnoult, M.4
Massin, P.5
Tournier-Lasserve, E.6
Bousser, M.-G.7
-
31
-
-
0037435523
-
Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy
-
Vahedi K., Massin P., Guichard J. P., Miocque S., Polivka M., Goutires F., Dress D., Chapon F., Ruchoux M. M., Riant F., Joutel A., Gaudric A., Bousser M. G., Tournier-Lasserve E., Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy Neurology 2003 60 1 57 63 (Pubitemid 36070644)
-
(2003)
Neurology
, vol.60
, Issue.1
, pp. 57-63
-
-
Vahedi, K.1
Massin, P.2
Guichard, J.-P.3
Miocque, S.4
Polivka, M.5
Goutieres, F.6
Dress, D.7
Chapon, F.8
Ruchoux, M.-M.9
Riant, F.10
Joutel, A.11
Gaudric, A.12
Bousser, M.-G.13
Tournier-Lasserve, E.14
-
32
-
-
37549015654
-
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
-
Plaisier E., Gribouval O., Alamowitch S., Mougenot B., Prost C., Verpont M. C., Marro B., Desmettre T., Cohen S. Y., Roullet E., Dracon M., Fardeau M., Van Agtmael T., Kerjaschki D., Antignac C., Ronco P., COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps New England Journal of Medicine 2007 357 26 2687 2695
-
(2007)
New England Journal of Medicine
, vol.357
, Issue.26
, pp. 2687-2695
-
-
Plaisier, E.1
Gribouval, O.2
Alamowitch, S.3
Mougenot, B.4
Prost, C.5
Verpont, M.C.6
Marro, B.7
Desmettre, T.8
Cohen, S.Y.9
Roullet, E.10
Dracon, M.11
Fardeau, M.12
Van Agtmael, T.13
Kerjaschki, D.14
Antignac, C.15
Ronco, P.16
-
33
-
-
73349084959
-
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
-
Alamowitch S., Plaisier E., Favrole P., Prost C., Chen Z., Van Agtmael T., Marro B., Ronco P., Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome Neurology 2009 73 22 1873 1882
-
(2009)
Neurology
, vol.73
, Issue.22
, pp. 1873-1882
-
-
Alamowitch, S.1
Plaisier, E.2
Favrole, P.3
Prost, C.4
Chen, Z.5
Van Agtmael, T.6
Marro, B.7
Ronco, P.8
-
34
-
-
1942501149
-
Osteogenesis imperfecta
-
DOI 10.1016/S0140-6736(04)16051-0, PII S0140673604160510
-
Rauch F., Glorieux F. H., Osteogenesis imperfecta The Lancet 2004 363 9418 1377 1385 (Pubitemid 38529880)
-
(2004)
Lancet
, vol.363
, Issue.9418
, pp. 1377-1385
-
-
Rauch, F.1
Glorieux, F.H.2
-
35
-
-
0043258821
-
Osteogenesis imperfecta
-
New York, NY, USA Wiley-liss
-
Byers P. H., Cole W. J., Royce P., Steinmann B., Osteogenesis imperfecta Connective Tissue and Its Heritable Disorders: Molecular, Genetic and Medical Aspects 1979 New York, NY, USA Wiley-liss 385 430
-
(1979)
Connective Tissue and Its Heritable Disorders: Molecular, Genetic and Medical Aspects
, pp. 385-430
-
-
Byers, P.H.1
Cole, W.J.2
Royce, P.3
Steinmann, B.4
-
36
-
-
0345816546
-
Osteogenesis imperfecta: Clinical variability and clas-sification
-
St. Louis, Mo, USA Mosby
-
Silence D. O., Akeson W. H., Bornstein P., Glimcher M. J., Osteogenesis imperfecta: clinical variability and clas-sification Symposium on Heritable Disease of Connective Tissue 1982 St. Louis, Mo, USA Mosby 223 247
-
(1982)
Symposium on Heritable Disease of Connective Tissue
, pp. 223-247
-
-
Silence, D.O.1
Akeson, W.H.2
Bornstein, P.3
Glimcher, M.J.4
-
37
-
-
0012441397
-
Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans
-
Gajko-Galicka A., Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans Acta Biochimica Polonica 2002 49 2 433 441 (Pubitemid 135686790)
-
(2002)
Acta Biochimica Polonica
, vol.49
, Issue.2
, pp. 433-441
-
-
Gajko-Galicka, A.1
-
38
-
-
33847321022
-
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
-
DOI 10.1038/ng1968, PII NG1968
-
Cabral W. A., Chang W., Barnes A. M., Weis M., Scott M. A., Leikin S., Makareeva E., Kuznetsova N. V., Rosenbaum K. N., Tifft C. J., Bulas D. I., Kozma C., Smith P. A., Eyre D. R., Marini J. C., Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta Nature Genetics 2007 39 3 359 365 (Pubitemid 46328489)
-
(2007)
Nature Genetics
, vol.39
, Issue.3
, pp. 359-365
-
-
Cabral, W.A.1
Chang, W.2
Barnes, A.M.3
Weis, M.4
Scott, M.A.5
Leikin, S.6
Makareeva, E.7
Kuznetsova, N.V.8
Rosenbaum, K.N.9
Tifft, C.J.10
Bulas, D.I.11
Kozma, C.12
Smith, P.A.13
Eyre, D.R.14
Marini, J.C.15
-
39
-
-
33750207868
-
CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta
-
DOI 10.1016/j.cell.2006.08.039, PII S0092867406012153
-
Morello R., Bertin T. K., Chen Y., Hicks J., Tonachini L., Monticone M., Castagnola P., Rauch F., Glorieux F. H., Vranka J., Bchinger H. P., Pace J. M., Schwarze U., Byers P. H., Weis M., Fernandes R. J., Eyre D. R., Yao Z., Boyce B. F., Lee B., CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta Cell 2006 127 2 291 304 (Pubitemid 44604299)
-
(2006)
Cell
, vol.127
, Issue.2
, pp. 291-304
-
-
Morello, R.1
Bertin, T.K.2
Chen, Y.3
Hicks, J.4
Tonachini, L.5
Monticone, M.6
Castagnola, P.7
Rauch, F.8
Glorieux, F.H.9
Vranka, J.10
Bachinger, H.P.11
Pace, J.M.12
Schwarze, U.13
Byers, P.H.14
Weis, M.15
Fernandes, R.J.16
Eyre, D.R.17
Yao, Z.18
Boyce, B.F.19
Lee, B.20
more..
-
40
-
-
0029794061
-
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains
-
Willing M. C., Deschenes S. P., Slayton R. L., Roberts E. J., Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains American Journal of Human Genetics 1996 59 4 799 809 (Pubitemid 26328075)
-
(1996)
American Journal of Human Genetics
, vol.59
, Issue.4
, pp. 799-809
-
-
Willing, M.C.1
Deschenes, S.P.2
Slayton, R.L.3
Roberts, E.J.4
-
41
-
-
0029787444
-
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened α2(I) chains show differential incorporation into the bone and skin extracellular matrix
-
DOI 10.1074/jbc.271.35.21068
-
Mundlos S., Chan D., Weng YI. M., Sillence D. O., Cole W. G., Bateman J. F., Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened 2(I) chains show differential incorporation into the bone and skin extracellular matrix Journal of Biological Chemistry 1996 271 35 21068 21074 (Pubitemid 26292955)
-
(1996)
Journal of Biological Chemistry
, vol.271
, Issue.35
, pp. 21068-21074
-
-
Mundlos, S.1
Chan, D.2
Weng, Y.M.3
Sillence, D.O.4
Cole, W.G.5
Bateman, J.F.6
-
42
-
-
0029023731
-
Osteogenesis imperfecta type II: Microvascular changes in the CNS
-
Verkh Z., Russell M., Miller C. A., Osteogenesis imperfecta type II: microvascular changes in the CNS Clinical Neuropathology 1995 14 3 154 158
-
(1995)
Clinical Neuropathology
, vol.14
, Issue.3
, pp. 154-158
-
-
Verkh, Z.1
Russell, M.2
Miller, C.A.3
-
43
-
-
0037395679
-
Abnormalities in the cerebral arterial system in osteogenesis imperfecta
-
Albayram S., Kizilkic O., Yilmaz H., Tuysuz B., Kocer N., Islak C., Abnormalities in the cerebral arterial system in osteogenesis imperfecta American Journal of Neuroradiology 2003 24 4 748 750 (Pubitemid 36460753)
-
(2003)
American Journal of Neuroradiology
, vol.24
, Issue.4
, pp. 748-750
-
-
Albayram, S.1
Kizilkic, O.2
Yilmaz, H.3
Tuysuz, B.4
Kocer, N.5
Islak, C.6
-
44
-
-
0028348890
-
Neurovascular manifestations of heritable connective tissue disorders: A review
-
Schievink W. I., Michels V. V., Piepgras D. G., Neurovascular manifestations of heritable connective tissue disorders: a review Stroke 1994 25 4 889 903 (Pubitemid 24111341)
-
(1994)
Stroke
, vol.25
, Issue.4
, pp. 889-903
-
-
Schievink, W.I.1
Michels, V.V.2
Piepgras, D.G.3
-
45
-
-
1942531419
-
Spontaneous carotid artery dissection in two siblings with osteogenesis imperfecta
-
DOI 10.1159/000076967
-
Rouvire S., Michelini R., Sarda P., Pags M., Spontaneous carotid artery dissection in two siblings with osteogenesis imperfecta Cerebrovascular Diseases 2004 17 2-3 270 272 (Pubitemid 38529211)
-
(2004)
Cerebrovascular Diseases
, vol.17
, Issue.2-3
, pp. 270-272
-
-
Rouviere, S.1
Michelini, R.2
Sarda, P.3
Pages, M.4
-
46
-
-
21344452794
-
Bisphosphonate treatment in osteogenesis imperfecta: Which drug, for whom, for how long?
-
DOI 10.1080/07853890510007386
-
Rauch F., Glorieux F. H., Bisphosphonate treatment in osteogenesis imperfecta: which drug, for whom, for how long? Annals of Medicine 2005 37 4 295 302 (Pubitemid 40911067)
-
(2005)
Annals of Medicine
, vol.37
, Issue.4
, pp. 295-302
-
-
Rauch, F.1
Glorieux, F.H.2
-
47
-
-
34047276812
-
Autosomal dominant polycystic kidney disease
-
DOI 10.1016/S0140-6736(07)60601-1, PII S0140673607606011
-
Torres V. E., Harris P. C., Pirson Y., Autosomal dominant polycystic kidney disease The Lancet 2007 369 9569 1287 1301 (Pubitemid 46552051)
-
(2007)
Lancet
, vol.369
, Issue.9569
, pp. 1287-1301
-
-
Torres, V.E.1
Harris, P.C.2
Pirson, Y.3
-
49
-
-
0033537164
-
Comparison of phonotypes of polycystic kidney disease types 1 and 2
-
DOI 10.1016/S0140-6736(98)03495-3
-
Hateboer N., Dijk M. A.V., Bogdanova N., Coto E., Saggar-Malik A. K., San Millan J. L., Torra R., Breuning M., Ravine D., Comparison of phonotypes of polycystic kidney disease types 1 and 2 The Lancet 1999 353 9147 103 107 (Pubitemid 29088079)
-
(1999)
Lancet
, vol.353
, Issue.9147
, pp. 103-107
-
-
Hateboer, N.1
Dijk, M.A.V.2
Bogdanova, N.3
Coto, E.4
Saggar-Malik, A.K.5
San Millan, J.L.6
Torra, R.7
Breuning, M.8
Ravine, D.9
-
50
-
-
77950473097
-
Cystic diseases of the kidney molecular biology and genetics
-
Deltas C., Cystic diseases of the kidney molecular biology and genetics Archives of Pathology and Laboratory Medicine 2010 134 4 569 582
-
(2010)
Archives of Pathology and Laboratory Medicine
, vol.134
, Issue.4
, pp. 569-582
-
-
Deltas, C.1
-
51
-
-
0036139004
-
Management of cerebral aneurysms in autosomal dominant polycystic kidney disease
-
Pirson Y., Chauveau D., Torres V., Management of cerebral aneurysms in autosomal dominant polycystic kidney disease Journal of the American Society of Nephrology 2002 13 1 269 276 (Pubitemid 34042038)
-
(2002)
Journal of the American Society of Nephrology
, vol.13
, Issue.1
, pp. 269-276
-
-
Pirson, Y.1
Chauveau, D.2
Torres, V.3
-
52
-
-
0242585391
-
Recurrence of intracranial aneurysms in autosomal-dominant polycystic kidney disease
-
DOI 10.1046/j.1523-1755.2003.00918.x
-
Belz M. M., Fick-Brosnahan G. M., Hughes R. L., Rubinstein D., Chapman A. B., Johnson A. M., McFann K. K., Kaehny W. D., Gabow P. A., Recurrence of intracranial aneurysms in autosomal-dominant polycystic kidney disease Kidney International 2003 63 5 1824 1830 (Pubitemid 36513329)
-
(2003)
Kidney International
, vol.63
, Issue.5
, pp. 1824-1830
-
-
Belz, M.M.1
Fick-Brosnahan, G.M.2
Hughes, R.L.3
Rubinstein, D.4
Chapman, A.B.5
Johnson, A.M.6
McFann, K.K.7
Kaehny, W.D.8
Gabow, P.A.9
-
53
-
-
0034933273
-
Trends in incidence and case fatality rates of aneurysmal subarachnoid hemorrhage in Izumo City, Japan, between 1980-1989 and 1990-1998
-
Inagawa T., Trends in incidence and case fatality rates of aneurysmal subarachnoid hemorrhage in Izumo City, Japan, between 19801989 and 19901998 Stroke 2001 32 7 1499 1507 (Pubitemid 32633351)
-
(2001)
Stroke
, vol.32
, Issue.7
, pp. 1499-1507
-
-
Inagawa, T.1
-
54
-
-
77449134764
-
Diagnosis and screening of autosomal dominant polycystic kidney disease
-
Pei Y., Watnick T., Diagnosis and screening of autosomal dominant polycystic kidney disease Advances in Chronic Kidney Disease 2010 17 2 140 152
-
(2010)
Advances in Chronic Kidney Disease
, vol.17
, Issue.2
, pp. 140-152
-
-
Pei, Y.1
Watnick, T.2
-
55
-
-
0027438505
-
Renal stone disease in autosomal dominant polycystic kidney disease
-
Torres V. E., Wilson D. M., Hattery R. R., Segura J. W., Renal stone disease in autosomal dominant polycystic kidney disease American Journal of Kidney Diseases 1993 22 4 513 519 (Pubitemid 23308959)
-
(1993)
American Journal of Kidney Diseases
, vol.22
, Issue.4
, pp. 513-519
-
-
Torres, V.E.1
Wilson, D.M.2
Hattery, R.R.3
Segura, J.W.4
-
56
-
-
77249145424
-
Extrarenal manifestations of autosomal dominant polycystic kidney disease
-
Pirson Y., Extrarenal manifestations of autosomal dominant polycystic kidney disease Advances in Chronic Kidney Disease 2010 17 2 173 180
-
(2010)
Advances in Chronic Kidney Disease
, vol.17
, Issue.2
, pp. 173-180
-
-
Pirson, Y.1
-
57
-
-
2342576242
-
Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease
-
DOI 10.1111/j.1523-1755.2004.00572.x
-
Gibbs G. F., Huston J., Qian QI., Kubly V., Harris P. C., Brown R. D., Torres V. E., Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease Kidney International 2004 65 5 1621 1627 (Pubitemid 38591009)
-
(2004)
Kidney International
, vol.65
, Issue.5
, pp. 1621-1627
-
-
Gibbs, G.F.1
Huston III, J.2
Qian, Q.3
Kubly, V.4
Harris, P.C.5
Brown Jr., R.D.6
Torres, V.E.7
-
59
-
-
38849135998
-
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
-
Vanakker O. M., Leroy B. P., Coucke P., Bercovitch L. G., Uitto J., Viljoen D., Terry S. F., Van Acker P., Matthys D., Loeys B., De Paepe A., Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart Human mutation 2008 29 1 205
-
(2008)
Human Mutation
, vol.29
, Issue.1
, pp. 205
-
-
Vanakker, O.M.1
Leroy, B.P.2
Coucke, P.3
Bercovitch, L.G.4
Uitto, J.5
Viljoen, D.6
Terry, S.F.7
Van Acker, P.8
Matthys, D.9
Loeys, B.10
De Paepe, A.11
-
60
-
-
18844465976
-
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
-
DOI 10.1038/76102
-
Le Saux O., Urban Z., Tschuch C., Csiszar K., Bacchelli B., Quaglino D., Pasquali-Ronchetti I., Pope F. M., Richards A., Terry S., Bercovitch L., De Paepe A., Boyd C. D., Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum Nature Genetics 2000 25 2 223 227 (Pubitemid 30394998)
-
(2000)
Nature Genetics
, vol.25
, Issue.2
, pp. 223-227
-
-
Le Saux, O.1
Urban, Z.2
Tschuch, C.3
Csiszar, K.4
Bacchelli, B.5
Quaglino, D.6
Pasquali-Ronchetti, I.7
Pope, F.M.8
Richards, A.9
Terry, S.10
Bercovitch, L.11
De Paepe, A.12
Boyd, C.D.13
-
61
-
-
77954588638
-
Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
-
Vanakker O. M., Martin L., Schurgers L. J., Quaglino D., Costrop L., Vermeer C., Pasquali-Ronchetti I., Coucke P. J., De Paepe A., Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome Laboratory Investigation 2010 90 6 895 905
-
(2010)
Laboratory Investigation
, vol.90
, Issue.6
, pp. 895-905
-
-
Vanakker, O.M.1
Martin, L.2
Schurgers, L.J.3
Quaglino, D.4
Costrop, L.5
Vermeer, C.6
Pasquali-Ronchetti, I.7
Coucke, P.J.8
De Paepe, A.9
-
62
-
-
39849092749
-
Intracerebral haemorrhage as first manifestation of Pseudoxanthoma elasticum
-
DOI 10.1016/j.clineuro.2007.09.009, PII S0303846707002739
-
Bock A., Schwegler G., Intracerebral haemorrhage as first manifestation of Pseudoxanthoma elasticum Clinical Neurology and Neurosurgery 2008 110 3 262 264 (Pubitemid 351313875)
-
(2008)
Clinical Neurology and Neurosurgery
, vol.110
, Issue.3
, pp. 262-264
-
-
Bock, A.1
Schwegler, G.2
-
63
-
-
0030964532
-
A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1 [1]
-
Van Soest S., Swart J., Tijmes N., Sandkuijl L. A., Rommers J., Bergen A. A. B., A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1 Genome Research 1997 7 8 830 834 (Pubitemid 27406064)
-
(1997)
Genome Research
, vol.7
, Issue.8
, pp. 830-834
-
-
Van Soest, S.1
Swart, J.2
Tijmes, N.3
Sandkuijl, L.A.4
Rommers, J.5
Bergen, A.A.B.6
-
64
-
-
17044399328
-
Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype
-
Wegman J. J., Hu X., Tan H., Bergen A. A. B., Trip M. D., Kastelein J. J. P., Smulders Y. M., Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype International Journal of Cardiology 2005 100 3 389 393
-
(2005)
International Journal of Cardiology
, vol.100
, Issue.3
, pp. 389-393
-
-
Wegman, J.J.1
Hu, X.2
Tan, H.3
Bergen, A.A.B.4
Trip, M.D.5
Kastelein, J.J.P.6
Smulders, Y.M.7
-
65
-
-
76949097206
-
The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease
-
Kbls G., Andrikovics H., Prohszka Z., Tordai A., Vradi A., Arnyi T., The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease Genetic Testing and Molecular Biomarkers 2010 14 1 75 78
-
(2010)
Genetic Testing and Molecular Biomarkers
, vol.14
, Issue.1
, pp. 75-78
-
-
Kbls, G.1
Andrikovics, H.2
Prohszka, Z.3
Tordai, A.4
Vradi, A.5
Arnyi, T.6
-
66
-
-
33847067547
-
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
-
Vanakker O. M., Martin L., Gheduzzi D., Leroy B. P., Loeys B. L., Guerci V. I., Matthys D., Terry S. F., Coucke P. J., Pasquali-Ronchetti I., De Paepe A., Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity Journal of Investigative Dermatology 2007 127 3 581 587
-
(2007)
Journal of Investigative Dermatology
, vol.127
, Issue.3
, pp. 581-587
-
-
Vanakker, O.M.1
Martin, L.2
Gheduzzi, D.3
Leroy, B.P.4
Loeys, B.L.5
Guerci, V.I.6
Matthys, D.7
Terry, S.F.8
Coucke, P.J.9
Pasquali-Ronchetti, I.10
De Paepe, A.11
-
67
-
-
34748866023
-
Intravitreal bevacizumab for the management of choroidal neovascularization in pseudoxanthoma elasticum
-
DOI 10.1097/IAE.0b013e31809ff5df, PII 0000698220070900000014
-
Bhatnagar P., Freund K. B., Spaide R. F., Klancnik J. M., Cooney M. J., Ho I., Fine H. F., Yannuzzi L. A., Intravitreal bevacizumab for the management of choroidal neovascularization in pseudoxanthoma elasticum Retina 2007 27 7 897 902 (Pubitemid 47479384)
-
(2007)
Retina
, vol.27
, Issue.7
, pp. 897-902
-
-
Bhatnagar, P.1
Freund, K.B.2
Spaide, R.F.3
Klancnik Jr., J.M.4
Cooney, M.J.5
Ho, I.6
Fine, H.F.7
Yannuzzi, L.A.8
-
68
-
-
77951769410
-
Marfan syndrome. Part 1: Pathophysiology and diagnosis
-
Cadas V., Vilacosta I., Bruna I., Fuster V., Marfan syndrome. Part 1: pathophysiology and diagnosis Nature Reviews Cardiology 2010 7 5 256 265
-
(2010)
Nature Reviews Cardiology
, vol.7
, Issue.5
, pp. 256-265
-
-
Cadas, V.1
Vilacosta, I.2
Bruna, I.3
Fuster, V.4
-
69
-
-
33745737894
-
The molecular genetics of Marfan syndrome and related disorders
-
DOI 10.1136/jmg.2005.039669
-
Robinson P. N., Arteaga-Solis E., Baldock C., Collod-Broud G., Booms P., De Paepe A., Dietz H. C., Guo G., Handford P. A., Judge D. P., Kielty C. M., Loeys B., Milewicz D. M., Ney A., Ramirez F., Reinhardt D. P., Tiedemann K., Whiteman P., Godfrey M., The molecular genetics of Marfan syndrome and related disorders Journal of Medical Genetics 2006 43 10 769 787 (Pubitemid 44654735)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.10
, pp. 769-787
-
-
Robinson, P.N.1
Arteaga-Solis, E.2
Baldock, C.3
Collod-Beroud, G.4
Booms, P.5
De Paepe, A.6
Dietz, H.C.7
Guo, G.8
Handford, P.A.9
Judge, D.P.10
Kielty, C.M.11
Loeys, B.12
Milewicz, D.M.13
Ney, A.14
Ramirez, F.15
Reinhardt, D.P.16
Tiedemann, K.17
Whiteman, P.18
Godfrey, M.19
-
70
-
-
0027192926
-
Clinical features and differential diagnosis of aortic dissection: Experience with 236 cases (1980 through 1990)
-
Spittell P. C., Spittell J. A., Joyce J. W., Tajik A. J., Edwards W. D., Schaff H. V., Stanson A. W., Clinical features and differential diagnosis of aortic dissection: experience with 236 cases (1980 through 1990) Mayo Clinic Proceedings 1993 68 7 642 651 (Pubitemid 23193889)
-
(1993)
Mayo Clinic Proceedings
, vol.68
, Issue.7
, pp. 642-651
-
-
Spittell, P.C.1
Spittell Jr., J.A.2
Joyce, J.W.3
Tajik, A.J.4
Edwards, W.D.5
Schaff, H.V.6
Stanson, A.W.7
-
71
-
-
84924638725
-
Marfan's syndrome with unusual blood vessel manifestations
-
Austin M. G., Schaeffer R. F., Marfan's syndrome with unusual blood vessel manifestations American Medical Association 1957 64 205 209
-
(1957)
American Medical Association
, vol.64
, pp. 205-209
-
-
Austin, M.G.1
Schaeffer, R.F.2
-
72
-
-
0036193110
-
Neurovascular complications of Marfan syndrome: A retrospective, hospital-based study
-
DOI 10.1161/hs0302.103816
-
Wityk R. J., Zanferrari C., Oppenheimer S., Neurovascular complications of Marfan syndrome: a retrospective, hospital-based study Stroke 2002 33 3 680 684 (Pubitemid 34203989)
-
(2002)
Stroke
, vol.33
, Issue.3
, pp. 680-684
-
-
Wityk, R.J.1
Zanferrari, C.2
Oppenheimer, S.3
-
73
-
-
0032788004
-
Marfan syndrome is not associated with intracranial aneurysms
-
Conway J. E., Hutchins G. M., Tamargo R. J., Marfan syndrome is not associated with intracranial aneurysms Stroke 1999 30 8 1632 1636 (Pubitemid 29379615)
-
(1999)
Stroke
, vol.30
, Issue.8
, pp. 1632-1636
-
-
Conway, J.E.1
Hutchins, G.M.2
Tamargo, R.J.3
-
74
-
-
0032736345
-
Marfan syndrome and intracranial aneurysms
-
Schievink W. I., Tamargo R. J., Conway J. E., Hutchins G. M., Marfan syndrome and intracranial aneurysms Stroke 1999 30 12 2767 2768
-
(1999)
Stroke
, vol.30
, Issue.12
, pp. 2767-2768
-
-
Schievink, W.I.1
Tamargo, R.J.2
Conway, J.E.3
Hutchins, G.M.4
-
75
-
-
77956127537
-
The revised Ghent nosology for the Marfan syndrome
-
Loeys B. L., Dietz H. C., Braverman A. C., Callewaert B. L., De Backer J., Devereux R. B., Hilhorst-Hofstee Y., Jondeau G., Faivre L., Milewicz D. M., Pyeritz R. E., Sponseller P. D., Wordsworth P., De Paepe A. M., The revised Ghent nosology for the Marfan syndrome Journal of Medical Genetics 2010 47 7 476 485
-
(2010)
Journal of Medical Genetics
, vol.47
, Issue.7
, 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
-
76
-
-
34250869487
-
Marfan syndrome: Clinical diagnosis and management
-
DOI 10.1038/sj.ejhg.5201851, PII 5201851
-
Dean J. C. S., Marfan syndrome: clinical diagnosis and management European Journal of Human Genetics 2007 15 7 724 733 (Pubitemid 46969881)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.7
, pp. 724-733
-
-
Dean, J.C.S.1
-
77
-
-
38649094252
-
Recent advances in understanding Marfan syndrome: Should we now treat surgical patients with losartan?
-
DOI 10.1016/j.jtcvs.2007.08.047, PII S0022522307015462
-
Matt P., Habashi J., Carrel T., Cameron D. E., Van Eyk J. E., Dietz H. C., Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? Journal of Thoracic and Cardiovascular Surgery 2008 135 2 389 394 (Pubitemid 351173114)
-
(2008)
Journal of Thoracic and Cardiovascular Surgery
, vol.135
, Issue.2
, pp. 389-394
-
-
Matt, P.1
Habashi, J.2
Carrel, T.3
Cameron, D.E.4
Van Eyk, J.E.5
Dietz, H.C.6
-
78
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
DOI 10.1038/ng1511
-
Loeys B. L., Chen J., Neptune E. R., Judge D. P., Podowski M., Holm T., Meyers J., Leitch C. C., Katsanis N., Sharifi N., Xu F. L., Myers L. A., Spevak P. J., Cameron D. E., De Backer J., Hellemans J., Chen Y., Davis E. C., Webb C. L., Kress W., Coucke P., Rifkin D. B., De Paepe A. M., Dietz H. C., A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 Nature Genetics 2005 37 3 275 281 (Pubitemid 41716254)
-
(2005)
Nature Genetics
, vol.37
, Issue.3
, pp. 275-281
-
-
Loeys, B.L.1
Chen, J.2
Neptune, E.R.3
Judge, D.P.4
Podowski, M.5
Holm, T.6
Meyers, J.7
Leitch, C.C.8
Katsanis, N.9
Sharifi, N.10
Xu, F.L.11
Myers, L.A.12
Spevak, P.J.13
Cameron, D.E.14
De Backer, J.15
Hellemans, J.16
Chen, Y.17
Davis, E.C.18
Webb, C.L.19
Kress, W.20
Coucke, P.21
Rifkin, D.B.22
De Paepe, A.M.23
Dietz, H.C.24
more..
-
79
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-β receptor
-
DOI 10.1056/NEJMoa055695
-
Loeys B. L., Schwarze U., Holm T., Callewaert B. L., Thomas G. H., Pannu H., De Backer J. F., Oswald G. L., Symoens S., Manouvrier S., Roberts A. E., Faravelli F., Alba Greco M., Pyeritz R. E., Milewicz D. M., Coucke P. J., Cameron D. E., Braverman A. C., Byers P. H., De Paepe A. M., Dietz H. C., Aneurysm syndromes caused by mutations in the TGF- receptor New England Journal of Medicine 2006 355 8 788 798 (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..
-
80
-
-
67349096313
-
Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndrome
-
Everitt M. D., Pinto N., Hawkins J. A., Mitchell M. B., Kouretas P. C., Yetman A. T., Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndrome Journal of Thoracic and Cardiovascular Surgery 2009 137 6 1327 1333
-
(2009)
Journal of Thoracic and Cardiovascular Surgery
, vol.137
, Issue.6
, pp. 1327-1333
-
-
Everitt, M.D.1
Pinto, N.2
Hawkins, J.A.3
Mitchell, M.B.4
Kouretas, P.C.5
Yetman, A.T.6
-
81
-
-
33847639690
-
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation
-
DOI 10.1038/ncpcardio0797, PII NCPCARDIO0797
-
LeMaire S. A., Pannu H., Tran-Fadulu V., Carter S. A., Coselli J. S., Milewicz D. M., Severe aortic and arterial aneurysms associated with a TGFBR2 mutation Nature Clinical Practice Cardiovascular Medicine 2007 4 3 167 171 (Pubitemid 46358844)
-
(2007)
Nature Clinical Practice Cardiovascular Medicine
, vol.4
, Issue.3
, pp. 167-171
-
-
LeMaire, S.A.1
Pannu, H.2
Tran-Fadulu, V.3
Carter, S.A.4
Coselli, J.S.5
Milewicz, D.M.6
-
83
-
-
0034030487
-
Clinical significance of the bicuspid aortic valve
-
Ward C., Clinical significance of the bicuspid aortic valve Heart 2000 83 1 81 85 (Pubitemid 30307645)
-
(2000)
Heart
, vol.83
, Issue.1
, pp. 81-85
-
-
Ward, C.1
-
84
-
-
0037143635
-
Clinical and pathophysiological implications of a bicuspid aortic valve
-
DOI 10.1161/01.CIR.0000027905.26586.E8
-
Fedak P. W. M., Verma S., David T. E., Leask R. L., Weisel R. D., Butany J., Clinical and pathophysiological implications of a bicuspid aortic valve Circulation 2002 106 8 900 904 (Pubitemid 34925320)
-
(2002)
Circulation
, vol.106
, Issue.8
, pp. 900-904
-
-
Fedak, P.W.M.1
Verma, S.2
David, T.E.3
Leask, R.L.4
Weisel, R.D.5
Butany, J.6
-
85
-
-
3242764513
-
Bicuspid aortic valve is heritable
-
DOI 10.1016/j.jacc.2004.03.050, PII S0735109704007739
-
Cripe L., Andelfinger G., Martin L. J., Shooner K., Benson D. W., Bicuspid aortic valve is heritable Journal of the American College of Cardiology 2004 44 1 138 143 (Pubitemid 38968472)
-
(2004)
Journal of the American College of Cardiology
, vol.44
, Issue.1
, pp. 138-143
-
-
Cripe, L.1
Andelfinger, G.2
Martin, L.J.3
Shooner, K.4
Benson, D.W.5
-
86
-
-
24644467759
-
Mutations in NOTCH1 cause aortic valve disease
-
DOI 10.1038/nature03940
-
Garg V., Muth A. N., Ransom J. F., Schluterman M. K., Barnes R., King I. N., Grossfeld P. D., Srivastava D., Mutations in NOTCH1 cause aortic valve disease Nature 2005 437 7056 270 274 (Pubitemid 41294491)
-
(2005)
Nature
, vol.437
, Issue.7056
, 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
-
87
-
-
77952112456
-
The molecular genetics of congenital heart disease: A review of recent developments
-
Wolf M., Basson C. T., The molecular genetics of congenital heart disease: a review of recent developments Current Opinion in Cardiology 2010 25 3 192 197
-
(2010)
Current Opinion in Cardiology
, vol.25
, Issue.3
, pp. 192-197
-
-
Wolf, M.1
Basson, C.T.2
-
88
-
-
0029119273
-
Familial aorto-cervicocephalic arterial dissections and congenitally bicuspid aortic valve
-
Schievink W. I., Mokri B., Familial aorto-cervicocephalic arterial dissections and congenitally bicuspid aortic valve Stroke 1995 26 10 1935 1940
-
(1995)
Stroke
, vol.26
, Issue.10
, pp. 1935-1940
-
-
Schievink, W.I.1
Mokri, B.2
-
89
-
-
0029789311
-
Intracranial aneurysms and cervicocephalic arterial dissections associated with congenital heart disease
-
Schievink W. I., Mokri B., Piepgras D. G., Gittenberger-de Groot A. C., Intracranial aneurysms and cervicocephalic arterial dissections associated with congenital heart disease Neurosurgery 1996 39 4 685 689
-
(1996)
Neurosurgery
, vol.39
, Issue.4
, pp. 685-689
-
-
Schievink, W.I.1
Mokri, B.2
Piepgras, D.G.3
Gittenberger-De Groot, A.C.4
-
90
-
-
0031027274
-
Intracranial aneurysms
-
DOI 10.1056/NEJM199701023360106
-
Schievink W. I., Intracranial aneurysms The New England Journal of Medicine 1997 336 28 40 (Pubitemid 26428285)
-
(1997)
New England Journal of Medicine
, vol.336
, Issue.1
, pp. 28-40
-
-
Schievink, W.I.1
-
91
-
-
77951813363
-
Screening for intracranial aneurysms in patients with bicuspid aortic valve
-
Schievink W. I., Raissi S. S., Maya M. M., Velebir A., Screening for intracranial aneurysms in patients with bicuspid aortic valve Neurology 2010 74 18 1430 1433
-
(2010)
Neurology
, vol.74
, Issue.18
, pp. 1430-1433
-
-
Schievink, W.I.1
Raissi, S.S.2
Maya, M.M.3
Velebir, A.4
-
93
-
-
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., Arterial tortuosity syndrome American Journal of Medical Genetics 2000 91 2 141 143 (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 Cara, G.4
Franceschini, D.5
-
94
-
-
38149069602
-
Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families
-
Callewaert B. L., Willaert A., Kerstjens-Frederikse W. S., De Backer J., Devriendt K., Albrecht B., Ramos-Arroyo M. A., Doco-Fenzy M., Hennekam R. C. M., Pyeritz R. E., Krogmann O. N., Gillessen-kaesbach G., Wakeling E. L., Nik-zainal S., Francannet C., Mauran P., Booth C., Barrow M., Dekens R., Loeys B. L., Coucke P. J., De Paepe A. M., Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families Human Mutation 2008 29 1 150 158
-
(2008)
Human Mutation
, vol.29
, Issue.1
, pp. 150-158
-
-
Callewaert, B.L.1
Willaert, A.2
Kerstjens-Frederikse, W.S.3
De Backer, J.4
Devriendt, K.5
Albrecht, B.6
Ramos-Arroyo, M.A.7
Doco-Fenzy, M.8
Hennekam, R.C.M.9
Pyeritz, R.E.10
Krogmann, O.N.11
Gillessen-Kaesbach, G.12
Wakeling, E.L.13
Nik-Zainal, S.14
Francannet, C.15
Mauran, P.16
Booth, C.17
Barrow, M.18
Dekens, R.19
Loeys, B.L.20
Coucke, P.J.21
De Paepe, A.M.22
more..
-
95
-
-
33645381280
-
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
-
Coucke P. J., Willaert A., Wessels M. W., Callewaert B., Zoppi N., De Backer J., Fox J. E., Mancini G. M. S., Kambouris M., Gardella R., Facchetti F., Willems P. J., Forsyth R., Dietz H. C., Barlati S., Colombi M., Loeys B., De Paepe A., Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome Nature Genetics 2006 38 4 452 457
-
(2006)
Nature Genetics
, vol.38
, Issue.4
, pp. 452-457
-
-
Coucke, P.J.1
Willaert, A.2
Wessels, M.W.3
Callewaert, B.4
Zoppi, N.5
De Backer, J.6
Fox, J.E.7
Mancini, G.M.S.8
Kambouris, M.9
Gardella, R.10
Facchetti, F.11
Willems, P.J.12
Forsyth, R.13
Dietz, H.C.14
Barlati, S.15
Colombi, M.16
Loeys, B.17
De Paepe, A.18
-
96
-
-
0030442369
-
Four sibs with arterial tortuosity: Description and review of the literature
-
Pletcher B. A., Fox J. E., Boxer R. A., Singh S., Blumenthal D., Cohen T., Brunson S., Tafreshi P., Kahn E., Four sibs with arterial tortuosity: description and review of the literature American Journal of Medical Genetics 1996 66 2 121 128
-
(1996)
American Journal of Medical Genetics
, vol.66
, Issue.2
, pp. 121-128
-
-
Pletcher, B.A.1
Fox, J.E.2
Boxer, R.A.3
Singh, S.4
Blumenthal, D.5
Cohen, T.6
Brunson, S.7
Tafreshi, P.8
Kahn, E.9
-
97
-
-
33747047598
-
Ischemic stroke in an adolescent with arterial tortuosity syndrome
-
DOI 10.1212/01.wnl.0000225056.66762.f9, PII 0000611420060725000048
-
Cartwright M. S., Hickling W. H., Roach E. S., Ischemic stroke in an adolescent with arterial tortuosity syndrome Neurology 2006 67 2 360 361 (Pubitemid 44305438)
-
(2006)
Neurology
, vol.67
, Issue.2
, pp. 360-361
-
-
Cartwright, M.S.1
Hickling, W.H.2
Roach, E.S.3
-
98
-
-
0035136866
-
Congenital supravalvar aortic stenosis: A simple lesion?
-
DOI 10.1016/S1010-7940(00)00647-3, PII S1010794000006473
-
Stamm C., Friehs I., Ho S. Y., Moran A. M., Jonas R. A., Del Nido P. J., Congenital supravalvar aortic stenosis: a simple lesion? European Journal of Cardio-thoracic Surgery 2001 19 2 195 202 (Pubitemid 32141038)
-
(2001)
European Journal of Cardio-thoracic Surgery
, vol.19
, Issue.2
, pp. 195-202
-
-
Stamm, C.1
Friehs, I.2
Ho, S.Y.3
Moran, A.M.4
Jonas, R.A.5
Del Nido, P.J.6
-
100
-
-
0031747028
-
Genetic aspects of supravalvular aortic stenosis
-
Morris C. A., Genetic aspects of supravalvular aortic stenosis Current Opinion in Cardiology 1998 13 3 214 219 (Pubitemid 28254461)
-
(1998)
Current Opinion in Cardiology
, vol.13
, Issue.3
, pp. 214-219
-
-
Morris, C.A.1
-
101
-
-
0029934509
-
Prognosis of supravalve aortic stenosis in 81 patients in Liverpool (1960-1993)
-
Kitchiner D., Jackson M., Walsh K., Peart I., Arnold R., Prognosis of supravalve aortic stenosis in 81 patients in Liverpool (19601993) Heart 1996 75 4 396 402 (Pubitemid 26155575)
-
(1996)
Heart
, vol.75
, Issue.4
, pp. 396-402
-
-
Kitchiner, D.1
Jackson, M.2
Walsh, K.3
Peart, I.4
Arnold, R.5
-
102
-
-
0030043763
-
Stroke in Williams syndrome
-
Wollack J. B., Kaifer M., Lamonte M. P., Rothman M., Stroke in Williams syndrome Stroke 1996 27 1 143 146 (Pubitemid 26008310)
-
(1996)
Stroke
, vol.27
, Issue.1
, pp. 143-146
-
-
Wollack, J.B.1
Kaifer, M.2
Lamonte, M.P.3
Rothman, M.4
-
103
-
-
1642455874
-
Spontaneous intracerebral hemorrhage and multiple infarction in Williams-Beuren syndrome
-
DOI 10.1159/000075263
-
Kalbhenn T., Neumann L. M., Lanksch W. R., Haberl H., Spontaneous intracerebral hemorrhage and multiple infarction in Williams-Beuren syndrome Pediatric Neurosurgery 2003 39 6 335 338 (Pubitemid 38134837)
-
(2003)
Pediatric Neurosurgery
, vol.39
, Issue.6
, pp. 335-338
-
-
Kalbhenn, T.1
Neumann, L.M.2
Lanksch, W.R.3
Haberl, H.4
-
104
-
-
0035932521
-
Spontaneous dissection of the carotid and vertebral arteries
-
DOI 10.1056/NEJM200103223441206
-
Schievink W. I., Spontaneous dissection of the carotid and vertebral arteries New England Journal of Medicine 2001 344 12 898 906 (Pubitemid 32224399)
-
(2001)
New England Journal of Medicine
, vol.344
, Issue.12
, pp. 898-906
-
-
Schievink, W.I.1
-
105
-
-
2342594606
-
Dissections simultanées des deux arteres carotides internes et des deux arteres vertébrales révélatrices d'un Syndrome d'Ehlers-Danlos type IV
-
Mondon K., De Toffol B., Georgesco G., Cassarini J.-F., Machet M.-C., Cottier J.-P., Arbeille B., Autret A., Dissections simultanes des deux artres carotides internes et des deux artres vertbrales rvlatrices d'un Syndrome d'Ehlers-Danlos type IV Revue Neurologique 2004 160 478 482 (Pubitemid 38585537)
-
(2004)
Revue Neurologique
, vol.160
, Issue.1-4
, pp. 478-482
-
-
Mondon, K.1
De Toffol, B.2
Georgesco, G.3
Cassarini, J.-F.4
Machet, M.-C.5
Cottier, J.-P.6
Arbeille, B.7
Autret, A.8
-
106
-
-
1942531419
-
Spontaneous carotid artery dissection in two siblings with osteogenesis imperfecta
-
DOI 10.1159/000076967
-
Rouvire S., Michelini R., Sarda P., Pags M., Spontaneous carotid artery dissection in two siblings with osteogenesis imperfecta Cerebrovascular Diseases 2004 17 2-3 270 272 (Pubitemid 38529211)
-
(2004)
Cerebrovascular Diseases
, vol.17
, Issue.2-3
, pp. 270-272
-
-
Rouviere, S.1
Michelini, R.2
Sarda, P.3
Pages, M.4
-
107
-
-
0029789383
-
Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the α1(I) chain of type I collagen
-
Mayer S. A., Rubin B. S., Starman B. J., Byers P. H., Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the 1(I) chain of type I collagen Neurology 1996 47 2 552 556 (Pubitemid 26324060)
-
(1996)
Neurology
, vol.47
, Issue.2
, pp. 552-556
-
-
Mayer, S.A.1
Rubin, B.S.2
Starman, B.J.3
Byers, P.H.4
-
108
-
-
2942632911
-
Different types of connective tissue alterations associated with cervical artery dissections
-
DOI 10.1007/s00401-004-0839-x
-
Hausser I., Mller U., Engelter S., Lyrer P., Pezzini A., Padovani A., Moormann B., Busse O., Weber R., Brandt T., Grond-Ginsbach C., Different types of connective tissue alterations associated with cervical artery dissections Acta Neuropathologica 2004 107 6 509 514 (Pubitemid 38765392)
-
(2004)
Acta Neuropathologica
, vol.107
, Issue.6
, pp. 509-514
-
-
Hausser, I.1
Muller, U.2
Engelter, S.3
Lyrer, P.4
Pezzini, A.5
Padovani, A.6
Moormann, B.7
Busse, O.8
Weber, R.9
Brandt, T.10
Grond-Ginsbach, C.11
-
109
-
-
18444410580
-
Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections
-
DOI 10.1007/s00415-002-0745-x
-
Von Pein F., Vlkkil M., Schwarz R., Morcher M., Klima B., Grau A., Ala-Kokko L., Hausser I., Brandt T., Grond-Ginsbach C., Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections Journal of Neurology 2002 249 7 862 866 (Pubitemid 34754223)
-
(2002)
Journal of Neurology
, vol.249
, Issue.7
, pp. 862-866
-
-
Von Pein, F.1
Valkkila, M.2
Schwarz, R.3
Morcher, M.4
Klima, B.5
Grau, A.6
Ala-Kokko, L.7
Hausser, I.8
Brandt, T.9
Grond-Ginsbach, C.10
-
110
-
-
0032825713
-
Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections
-
Grond-Ginsbach C., Weber R., Haas J., Orberk E., Kunz S., Busse O., Hausser I., Brandt T., Wildemann B., Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections Stroke 1999 30 9 1887 1890 (Pubitemid 29411832)
-
(1999)
Stroke
, vol.30
, Issue.9
, pp. 1887-1890
-
-
Grond-Ginsbach, C.1
Weber, R.2
Haas, J.3
Orberk, E.4
Kunz, S.5
Busse, O.6
Hausser, I.7
Brandt, T.8
Wildemann, B.9
-
111
-
-
0037046211
-
Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections
-
Grond-Ginsbach C., Wigger F., Morcher M., Von Pein F., Grau A., Hausser I., Brandt T., Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections Neurology 2002 58 7 1103 1105 (Pubitemid 34298555)
-
(2002)
Neurology
, vol.58
, Issue.7
, pp. 1103-1105
-
-
Grond-Ginsbach, C.1
Wigger, F.2
Morcher, M.3
Von Pein, F.4
Grau, A.5
Hausser, I.6
Brandt, T.7
-
112
-
-
0042882807
-
Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections
-
DOI 10.1007/s00415-003-1139-4
-
Morcher M., Hausser I., Brandt T., Grond-Ginsbach C., Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections Journal of Neurology 2003 250 8 983 986 (Pubitemid 37041032)
-
(2003)
Journal of Neurology
, vol.250
, Issue.8
, pp. 983-986
-
-
Morcher, M.1
Hausser, I.2
Brandt, T.3
Grond-Ginsbach, C.4
-
113
-
-
68149123323
-
CADISP-genetics: An International project searching for genetic risk factors of cervical artery dissections
-
Debette S., Metso T. M., Pezzini A., Engelter S. T., Leys D., Lyrer P., Metso A. J., Brandt T., Kloss M., Lichy C., Hausser I., Touz E., Markus H. S., Abboud S., Caso V., Bersano A., Grau A., Altintas A., Amouyel P., Tatlisumak T., Dallongeville J., Grond-Ginsbach C., Pandolfo M., Thijs V., Metso T., Metso A., Metso M., Tatlisumak T., Bodenant M., Debette S., Leys D., Ossou P., Louillet F., Mas J. L., Touz E., Leder S., Lger A., Deltour S., Crozier S., Mresse I., Samson Y., Canaple S., Godefroy O., Lamy C., Bjot Y., Giroud M., Decavel P., Medeiros E., Montiel P., Moulin T., Vuillier F., Amouyel P., Dallongeville J., Debette S., Fievet N., Bellengier L., Deplanque D., Libersa C., Schilling S., Montel S., Rmy C., Grond-Ginsbach C., Kloss M., Lichy C., Wiest T., Werner I., Arnold M. L., Dos Santos M., Grau A., Dichgans M., Hausser I., Brandt T., Thomas-Feles C., Weber R., Del Zotto E., Giossi A., Padovani A., Pezzini A., Caso V., Ballabio E., Bersano A., Beretta S., Ferrarese C., Sessa M., Paolucci S., Engelter S., Fluri F., Hatz F., Gisler D., Tiemessen A., Lyrer P., Markus H., Altintas A., Martin J. J., CADISP-genetics: an International project searching for genetic risk factors of cervical artery dissections International Journal of Stroke 2009 4 3 224 230
-
(2009)
International Journal of Stroke
, vol.4
, Issue.3
, pp. 224-230
-
-
Debette, S.1
Metso, T.M.2
Pezzini, A.3
Engelter, S.T.4
Leys, D.5
Lyrer, P.6
Metso, A.J.7
Brandt, T.8
Kloss, M.9
Lichy, C.10
Hausser, I.11
Touz, E.12
Markus, H.S.13
Abboud, S.14
Caso, V.15
Bersano, A.16
Grau, A.17
Altintas, A.18
Amouyel, P.19
Tatlisumak, T.20
Dallongeville, J.21
Grond-Ginsbach, C.22
Pandolfo, M.23
Thijs, V.24
Metso, T.25
Metso, A.26
Metso, M.27
Tatlisumak, T.28
Bodenant, M.29
Debette, S.30
Leys, D.31
Ossou, P.32
Louillet, F.33
Mas, J.L.34
Touz, E.35
Leder, S.36
Lger, A.37
Deltour, S.38
Crozier, S.39
Mresse, I.40
Samson, Y.41
Canaple, S.42
Godefroy, O.43
Lamy, C.44
Bjot, Y.45
Giroud, M.46
Decavel, P.47
Medeiros, E.48
Montiel, P.49
Moulin, T.50
Vuillier, F.51
Amouyel, P.52
Dallongeville, J.53
Debette, S.54
Fievet, N.55
Bellengier, L.56
Deplanque, D.57
Libersa, C.58
Schilling, S.59
Montel, S.60
Rmy, C.61
Grond-Ginsbach, C.62
Kloss, M.63
Lichy, C.64
Wiest, T.65
Werner, I.66
Arnold, M.L.67
Dos Santos, M.68
Grau, A.69
Dichgans, M.70
Hausser, I.71
Brandt, T.72
Thomas-Feles, C.73
Weber, R.74
Del Zotto, E.75
Giossi, A.76
Padovani, A.77
Pezzini, A.78
Caso, V.79
Ballabio, E.80
Bersano, A.81
Beretta, S.82
Ferrarese, C.83
Sessa, M.84
Paolucci, S.85
Engelter, S.86
Fluri, F.87
Hatz, F.88
Gisler, D.89
Tiemessen, A.90
Lyrer, P.91
Markus, H.92
Altintas, A.93
Martin, J.J.94
more..
-
114
-
-
0029864463
-
Recurrent spontaneous arterial dissections: Risk in familial versus nonfamilial disease
-
Schievink W. I., Mokri B., Piepgras D. G., Kuiper J. D., Recurrent spontaneous arterial dissections: risk in familial versus nonfamilial disease Stroke 1996 27 4 622 624 (Pubitemid 26114420)
-
(1996)
Stroke
, vol.27
, Issue.4
, pp. 622-624
-
-
Schievink, W.I.1
Mokri, B.2
Piepgras, D.G.3
Kuiper, J.D.4
-
115
-
-
33845382198
-
Familial cervical artery dissections: Clinical, morphologic, and genetic studies
-
DOI 10.1161/01.STR.0000248916.52976.49, PII 0000767020061200000022
-
Martin J. J., Hausser I., Lyrer P., Busse O., Schwarz R., Schneider R., Brandt T., Kloss M., Schwaninger M., Engelter S., Grond-Ginsbach C., Familial cervical artery dissections: clinical, morphologic, and genetic studies Stroke 2006 37 12 2924 2929 (Pubitemid 44900810)
-
(2006)
Stroke
, vol.37
, Issue.12
, pp. 2924-2929
-
-
Martin, J.J.1
Hausser, I.2
Lyrer, P.3
Busse, O.4
Schwarz, R.5
Schneider, R.6
Brandt, T.7
Kloss, M.8
Schwaninger, M.9
Engelter, S.10
Grond-Ginsbach, C.11
-
116
-
-
0036193109
-
Spontaneous cervical artery dissection: From risk factors toward pathogenesis
-
Brandt T., Grond-Ginsbach C., Spontaneous cervical artery dissection: from risk factors toward pathogenesis Stroke 2002 33 3 657 658 (Pubitemid 34203983)
-
(2002)
Stroke
, vol.33
, Issue.3
, pp. 657-658
-
-
Brandt, T.1
Grond-Ginsbach, C.2
-
118
-
-
0028171579
-
Endoglin, a TGF- binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
-
McAllister K. A., Grogg K. M., Johnson D. W., Gallione C. J., Baldwin M. A., Jackson C. E., Helmbold E. A., Markel D. S., McKinnon W. C., Murrell J., McCormick M. K., Pericak-Vance M. A., Heutink P., Oostra B. A., Haitjema T., Westerman C. J. J., Porteous M. E., Guttmacher A. E., Letarte M., Marchuk D. A., Endoglin, a TGF- binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 Nature Genetics 1994 8 4 345 351
-
(1994)
Nature Genetics
, vol.8
, Issue.4
, 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
McCormick, M.K.11
Pericak-Vance, M.A.12
Heutink, P.13
Oostra, B.A.14
Haitjema, T.15
Westerman, C.J.J.16
Porteous, M.E.17
Guttmacher, A.E.18
Letarte, M.19
Marchuk, D.A.20
more..
-
119
-
-
11144356696
-
Molecular Screening of ALK1/ACVRL1 and ENG Genes in Hereditary Hemorrhagic Telangiectasia in France
-
DOI 10.1002/humu.20017
-
Lesca G., Plauchu H., Coulet F., Lefebvre S., Plessis G., Odent S., Rivire S., Leheup B., Goizet C., Carette M. F., Cordier J. F., Pinson S., Soubrier F., Calender A., Giraud S., Molecular Screening of ALK1/ACVRL1 and ENG Genes in Hereditary Hemorrhagic Telangiectasia in France Human Mutation 2004 23 4 289 299 (Pubitemid 38461510)
-
(2004)
Human Mutation
, vol.23
, Issue.4
, pp. 289-299
-
-
Lesca, G.1
Plauchu, H.2
Coulet, F.3
Lefebvre, S.4
Plessis, G.5
Odent, S.6
Riviere, S.7
Leheup, B.8
Goizet, C.9
Carette, M.-F.10
Cordier, J.-F.11
Pinson, S.12
Soubrier, F.13
Calender, A.14
Giraud, S.15
-
120
-
-
0028577146
-
Genetic heterogeneity in hereditary haemorrhagic telangiectasia
-
Porteous M. E. M., Curtis A., Williams O., Marchuk D., Bhattacharya S. S., Burn J., Genetic heterogeneity in hereditary haemorrhagic telangiectasia Journal of Medical Genetics 1994 31 12 925 926
-
(1994)
Journal of Medical Genetics
, vol.31
, Issue.12
, pp. 925-926
-
-
Porteous, M.E.M.1
Curtis, A.2
Williams, O.3
Marchuk, D.4
Bhattacharya, S.S.5
Burn, J.6
-
121
-
-
33645786728
-
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
-
Letteboer T. G. W., Mager J. J., Snijder R. J., Koeleman B. P. C., Lindhout D., Ploos Van Amstel J. K., Westermann C. J. J., Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia Journal of Medical Genetics 2006 43 4 371 377
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.4
, pp. 371-377
-
-
Letteboer, T.G.W.1
Mager, J.J.2
Snijder, R.J.3
Koeleman, B.P.C.4
Lindhout, D.5
Ploos Van Amstel, J.K.6
Westermann, C.J.J.7
-
122
-
-
11544271038
-
Rendu-Osler-Weber syndrome: A current perspective on cerebral manifestations
-
McDonald M. J., Brophy B. P., Kneebone C., Rendu-Osler-Weber syndrome: a current perspective on cerebral manifestations Journal of Clinical Neuroscience 1998 5 3 345 350 (Pubitemid 128646522)
-
(1998)
Journal of Clinical Neuroscience
, vol.5
, Issue.3
, pp. 345-350
-
-
McDonald, M.J.1
Brophy, B.P.2
Kneebone, C.3
-
123
-
-
70350437311
-
Paradoxical systemic embolization in hereditary hemorrhagic telangiectasia
-
Singh N. K., Kolluri R., Paradoxical systemic embolization in hereditary hemorrhagic telangiectasia Circulation. Cardiovascular imaging 2008 1 2 e11 e12
-
(2008)
Circulation. Cardiovascular Imaging
, vol.1
, Issue.2
-
-
Singh, N.K.1
Kolluri, R.2
-
125
-
-
67649199928
-
Hereditary haemorrhagic telangiectasia: A clinical and scientific review
-
Govani F. S., Shovlin C. L., Hereditary haemorrhagic telangiectasia: a clinical and scientific review European Journal of Human Genetics 2009 17 7 860 871
-
(2009)
European Journal of Human Genetics
, vol.17
, Issue.7
, pp. 860-871
-
-
Govani, F.S.1
Shovlin, C.L.2
-
126
-
-
77954700071
-
A review on clinical management and pharmacological therapy on hereditary haemorrhagic telangiectasia (HHT)
-
Zarrabeitia R., Albiana V., Salcedo M., Searis-Gonzalez B., Fernandez-Forcelledo J.-L., Botella L.-M., A review on clinical management and pharmacological therapy on hereditary haemorrhagic telangiectasia (HHT) Current Vascular Pharmacology 2010 8 4 473 481
-
(2010)
Current Vascular Pharmacology
, vol.8
, Issue.4
, pp. 473-481
-
-
Zarrabeitia, R.1
Albiana, V.2
Salcedo, M.3
Searis-Gonzalez, B.4
Fernandez-Forcelledo, J.-L.5
Botella, L.-M.6
-
127
-
-
34547341917
-
Fibromuscular dysplasia
-
Plouin P. F., Perdu J., La Batide-Alanore A., Boutouyrie P., Gimenez-Roqueplo A. P., Jeunemaitre X., Fibromuscular dysplasia Orphanet Journal of Rare Diseases 2007 2 1, article 28
-
(2007)
Orphanet Journal of Rare Diseases
, vol.2
, Issue.1 ARTICLE 28
-
-
Plouin, P.F.1
Perdu, J.2
La Batide-Alanore, A.3
Boutouyrie, P.4
Gimenez-Roqueplo, A.P.5
Jeunemaitre, X.6
-
128
-
-
0344976348
-
Renal artery fibrodysplasia
-
London, UK WB Saunders
-
Stanley J. C., Novick A. C., Scable J., Hamilton G., Renal artery fibrodysplasia Renal Vascular Disease 1996 London, UK WB Saunders 21 23
-
(1996)
Renal Vascular Disease
, pp. 21-23
-
-
Stanley, J.C.1
Novick, A.C.2
Scable, J.3
Hamilton, G.4
-
129
-
-
0020062317
-
Fibromuscular dysplasia and the brain. II. Current concept of the disease
-
Mettinger K. L., Fibromuscular dysplasia and the brain. II. Current concept of the disease Stroke 1982 13 1 53 58 (Pubitemid 12219049)
-
(1982)
Stroke
, vol.13
, Issue.1
, pp. 53-58
-
-
Mettinger, K.L.1
-
130
-
-
0031917784
-
Prevalence of cerebral aneurysms in patients with fibromuscular dysplasia: A reassessment
-
Cloft H. J., Kallmes D. F., Kallmes M. H., Goldstein J. H., Jensen M. E., Dion J. E., Prevalence of cerebral aneurysms in patients with fibromuscular dysplasia: a reassessment Journal of Neurosurgery 1998 88 3 436 440 (Pubitemid 28114715)
-
(1998)
Journal of Neurosurgery
, vol.88
, Issue.3
, pp. 436-440
-
-
Cloft, H.J.1
Kallmes, D.F.2
Kallmes, M.H.3
Goldstein, J.H.4
Jensen, M.E.5
Dion, J.E.6
-
131
-
-
33845582008
-
Carotid artery fibromuscular dysplasia
-
DOI 10.1016/j.amjsurg.2006.03.015, PII S0002961006006258
-
Stahlfeld K. R., Means J. R., Didomenico P., Carotid artery fibromuscular dysplasia American Journal of Surgery 2007 193 1 71 72 (Pubitemid 44937158)
-
(2007)
American Journal of Surgery
, vol.193
, Issue.1
, pp. 71-72
-
-
Stahlfeld, K.R.1
Means, J.R.2
Didomenico, P.3
-
132
-
-
0002563688
-
Fibromuscular hyperplasia of the internal carotid artery: Report of a case
-
CONNETT M. C., LANSCHE J. M., Fibromuscular hyperplasia of the internal carotid artery: report of a case Annals of surgery 1965 162 59 62
-
(1965)
Annals of Surgery
, vol.162
, pp. 59-62
-
-
Connett, M.C.1
Lansche, J.M.2
-
133
-
-
0033173012
-
Fibromuscular dysplasia of the internal carotid artery. Personal experience with 13 cases and literature review
-
Van Damme H., Sakalihasan N., Limet R., Fibromuscular dysplasia of the internal carotid artery. Personal experience with 13 cases and literature review Acta Chirurgica Belgica 1999 4 163 168
-
(1999)
Acta Chirurgica Belgica
, Issue.4
, pp. 163-168
-
-
Van Damme, H.1
Sakalihasan, N.2
Limet, R.3
-
134
-
-
0030803706
-
Occlusive fibromuscular disease of arteries supplying the brain: Results of surgical treatment
-
DOI 10.1007/s100169900081
-
Chiche L., Bahnini A., Koskas F., Kieffer E., Occlusive fibromuscular disease of arteries supplying the brain: results of surgical treatment Annals of Vascular Surgery 1997 11 5 496 504 (Pubitemid 27402628)
-
(1997)
Annals of Vascular Surgery
, vol.11
, Issue.5
, pp. 496-504
-
-
Chiche, L.1
Bahnini, A.2
Koskas, F.3
Kieffer, E.4
-
135
-
-
28044463384
-
The neurological implications of fibromuscular dysplasia
-
Dayes L. A., Gardiner N., The neurological implications of fibromuscular dysplasia Mount Sinai Journal of Medicine 2005 72 6 418 420 (Pubitemid 41684371)
-
(2005)
Mount Sinai Journal of Medicine
, vol.72
, Issue.6
, pp. 418-420
-
-
Dayes, L.A.1
Gardiner, N.2
-
136
-
-
77955132136
-
Fibromuscular dysplasia of cervical and intracranial arteries
-
Touz E., Oppenheim C., Trystram D., Nokam G., Pasquini M., Alamowitch S., Herv D., Garnier P., Mousseaux E., Plouin P.-F., Fibromuscular dysplasia of cervical and intracranial arteries International Journal of Stroke 2010 5 4 296 305
-
(2010)
International Journal of Stroke
, vol.5
, Issue.4
, pp. 296-305
-
-
Touz, E.1
Oppenheim, C.2
Trystram, D.3
Nokam, G.4
Pasquini, M.5
Alamowitch, S.6
Herv, D.7
Garnier, P.8
Mousseaux, E.9
Plouin, P.-F.10
-
137
-
-
4744362285
-
Proinflammatory genetic profiles in subjects with history of ischemic stroke
-
DOI 10.1161/01.STR.0000140740.19421.fe
-
Flex A., Gaetani E., Papaleo P., Straface G., Proia A. S., Pecorini G., Tondi P., Pola P., Pola R., Proinflammatory genetic profiles in subjects with history of ischemic stroke Stroke 2004 35 10 2270 2275 (Pubitemid 39311248)
-
(2004)
Stroke
, vol.35
, Issue.10
, pp. 2270-2275
-
-
Flex, A.1
Gaetani, E.2
Papaleo, P.3
Straface, G.4
Proia, A.S.5
Pecorini, G.6
Tondi, P.7
Pola, P.8
Pola, R.9
-
138
-
-
15844406034
-
Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression
-
DOI 10.1074/jbc.271.22.13055
-
Ye S., Eriksson P., Hamsten A., Kurkinen M., Humphries S. E., Henney A. M., Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression Journal of Biological Chemistry 1996 271 22 13055 13060 (Pubitemid 26175880)
-
(1996)
Journal of Biological Chemistry
, vol.271
, Issue.22
, pp. 13055-13060
-
-
Ye, S.1
Eriksson, P.2
Hamsten, A.3
Kurkinen, M.4
Humphries, S.E.5
Henney, A.M.6
-
139
-
-
33748362200
-
The versican gene and the risk of intracranial aneurysms
-
DOI 10.1161/01.STR.0000236499.55301.09, PII 0000767020060900000045
-
Ruigrok Y. M., Rinkel G. J. E., Wijmenga C., The versican gene and the risk of intracranial aneurysms Stroke 2006 37 9 2372 2374 (Pubitemid 44337186)
-
(2006)
Stroke
, vol.37
, Issue.9
, pp. 2372-2374
-
-
Ruigrok, Y.M.1
Rinkel, G.J.E.2
Wijmenga, C.3
-
140
-
-
66449105904
-
Association analysis of genes involved in the maintenance of the integrity of the extracellular matrix with intracranial aneurysms in a Japanese cohort
-
Ruigrok Y. M., Rinkel G. J. E., Wijmenga C., Kasuya H., Tajima A., Takahashi T., Hata A., Inoue I., Krischek B., Association analysis of genes involved in the maintenance of the integrity of the extracellular matrix with intracranial aneurysms in a Japanese cohort Cerebrovascular Diseases 2009 28 2 131 134
-
(2009)
Cerebrovascular Diseases
, vol.28
, Issue.2
, pp. 131-134
-
-
Ruigrok, Y.M.1
Rinkel, G.J.E.2
Wijmenga, C.3
Kasuya, H.4
Tajima, A.5
Takahashi, T.6
Hata, A.7
Inoue, I.8
Krischek, B.9
-
141
-
-
0003602787
-
Abdominal aortic aneurysm
-
Cambridge, UK Cambridge University Press
-
Powell J. T., Halliday A., Hunt B. J., Poston L., Schachter M., Abdominal aortic aneurysm An Introduction to Vascular Biology 1998 Cambridge, UK Cambridge University Press 166 172
-
(1998)
An Introduction to Vascular Biology
, pp. 166-172
-
-
Powell, J.T.1
Halliday, A.2
Hunt, B.J.3
Poston, L.4
Schachter, M.5
-
142
-
-
0032728702
-
Functional polymorphism in the matrix metalloproteinase-9 promoter as a potential risk factor for intracranial aneurysm
-
Peters D. G., Kassam A., Jean P. L. ST., Yonas H., Ferrell R. E., Functional polymorphism in the matrix metalloproteinase-9 promoter as a potential risk factor for intracranial aneurysm Stroke 1999 30 12 2612 2616
-
(1999)
Stroke
, vol.30
, Issue.12
, pp. 2612-2616
-
-
Peters, D.G.1
Kassam, A.2
Jean, P.L.St.3
Yonas, H.4
Ferrell, R.E.5
-
143
-
-
0034820227
-
Polymorphisms in matrix metalloproteinase-1, -3, -9, and -12 genes in relation to subarachnoid hemorrhage
-
Zhang B., Dhillon S., Geary I., Howell W. M., Iannotti F., Day I. N. M., Ye S., Polymorphisms in matrix metalloproteinase-1, -3, -9, and -12 genes in relation to subarachnoid hemorrhage Stroke 2001 32 9 2198 2202 (Pubitemid 32868122)
-
(2001)
Stroke
, vol.32
, Issue.9
, pp. 2198-2202
-
-
Zhang, B.1
Dhillon, S.2
Geary, I.3
Howell, W.M.4
Iannotti, F.5
Day, I.N.M.6
Ye, S.7
-
144
-
-
78149245608
-
The neurovascular unit, matrix proteases, and innate inflammation
-
del Zoppo G. J., The neurovascular unit, matrix proteases, and innate inflammation Annals of the New York Academy of Sciences 2010 1207 46 49
-
(2010)
Annals of the New York Academy of Sciences
, vol.1207
, pp. 46-49
-
-
Del Zoppo, G.J.1
|