-
2
-
-
9644264289
-
Three new families with arterial tortuosity syndrome
-
Three new families with arterial tortuosity syndrome. MW Wessels CE Catsman-Berrevoets GM Mancini MH Breuning JJ Hoogeboom H Stroink I Frohn-Mulder PJ Coucke AD Paepe MF Niermeijer PJ Willems, Am J Med Genet A 2004 131 134 143
-
(2004)
Am J Med Genet A
, vol.131
, pp. 134-143
-
-
Wessels, M.W.1
Catsman-Berrevoets, C.E.2
Mancini, G.M.3
Breuning, M.H.4
Hoogeboom, J.J.5
Stroink, H.6
Frohn-Mulder, I.7
Coucke, P.J.8
Paepe, A.D.9
Niermeijer, M.F.10
Willems, P.J.11
-
4
-
-
38149069602
-
Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families
-
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. BL Callewaert A Willaert WS Kerstjens-Frederikse J De Backer K Devriendt B Albrecht MA Ramos-Arroyo M Doco-Fenzy RC Hennekam RE Pyeritz ON Krogmann G Gillessen-kaesbach EL Wakeling S Nik-zainal C Francannet P Mauran C Booth M Barrow R Dekens BL Loeys PJ Coucke AM De Paepe, Hum Mutat 2008 29 150 158
-
(2008)
Hum Mutat
, vol.29
, 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.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..
-
5
-
-
33645381280
-
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
-
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. PJ Coucke A Willaert MW Wessels B Callewaert N Zoppi J De Backer JE Fox GM Mancini M Kambouris R Gardella F Facchetti PJ Willems R Forsyth HC Dietz S Barlati M Colombi B Loeys A De Paepe, Nat Genet 2006 38 452 457
-
(2006)
Nat Genet
, vol.38
, pp. 452-457
-
-
Coucke, P.J.1
Willaert, A.2
Wessels, M.W.3
Callewaert, B.4
Zoppi, N.5
De Backer, J.6
Fox, J.E.7
Mancini, G.M.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
-
6
-
-
0142147124
-
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
-
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. PJ Coucke M Wessels P Van Acker R Gardella S Barlati PJ Willems M Colombi A De Paepe, J Med Genet 2003 40 747 751
-
(2003)
J Med Genet
, vol.40
, pp. 747-751
-
-
Coucke, P.J.1
Wessels, M.2
Van Acker, P.3
Gardella, R.4
Barlati, S.5
Willems, P.J.6
Colombi, M.7
De Paepe, A.8
-
8
-
-
62949151326
-
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome
-
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. M Faiyaz-Ul-Haque SH Zaidi N Al-Sanna A Alswaid T Momenah N Kaya F Al-Dayel I Bouhoaigah M Saliem LC Tsui AS Teebi, Atherosclerosis 2009 203 466 471
-
(2009)
Atherosclerosis
, vol.203
, pp. 466-471
-
-
Faiyaz-Ul-Haque, M.1
Zaidi, S.H.2
Al-Sanna, N.3
Alswaid, A.4
Momenah, T.5
Kaya, N.6
Al-Dayel, F.7
Bouhoaigah, I.8
Saliem, M.9
Tsui, L.C.10
Teebi, A.S.11
-
11
-
-
47149105278
-
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families
-
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. M Faiyaz-Ul-Haque SH Zaidi AA Wahab E Eltohami MS Al-Mureikhi G Al-Thani VD Peltekova LC Tsui AS Teebi, Clin Genet 2008 74 189 193
-
(2008)
Clin Genet
, vol.74
, pp. 189-193
-
-
Faiyaz-Ul-Haque, M.1
Zaidi, S.H.2
Wahab, A.A.3
Eltohami, E.4
Al-Mureikhi, M.S.5
Al-Thani, G.6
Peltekova, V.D.7
Tsui, L.C.8
Teebi, A.S.9
-
12
-
-
0030457124
-
Clinicopathologic findings in congenital aneurysms of the great vessels
-
Clinicopathologic findings in congenital aneurysms of the great vessels. LC Adès WB Knight RW Byard JF Bateman JA Esquivel RB Mee EA Haan DM Milewicz, Am J Med Genet A 1996 66 289 299
-
(1996)
Am J Med Genet A
, vol.66
, pp. 289-299
-
-
Adès, L.C.1
Knight, W.B.2
Byard, R.W.3
Bateman, J.F.4
Esquivel, J.A.5
Mee, R.B.6
Haan, E.A.7
Milewicz, D.M.8
-
13
-
-
0014439866
-
Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries. A new entity, diagnosed during life, and leading to coronary death in early childhood
-
Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries. A new entity, diagnosed during life, and leading to coronary death in early childhood. AJ Beuren W Hort H Kalbfleisch H Müller J Stoermer, Circulation 1969 39 109 115
-
(1969)
Circulation
, vol.39
, pp. 109-115
-
-
Beuren, A.J.1
Hort, W.2
Kalbfleisch, H.3
Müller, H.4
Stoermer, J.5
-
14
-
-
0030442369
-
Four sibs with arterial tortuosity: Description and review of the literature
-
Four sibs with arterial tortuosity: description and review of the literature. BA Pletcher JE Fox RA Boxer S Singh D Blumenthal T Cohen S Brunson P Tafreshi E Kahn, Am J Med Genet A 1996 66 121 128
-
(1996)
Am J Med Genet A
, vol.66
, 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
|