-
1
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
DOI 10.1038/ng1511
-
Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 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, B.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, P.A.M.23
Dietz, H.C.24
more..
-
2
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-beta receptor
-
DOI 10.1056/NEJMoa055695
-
Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355(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, B.J.F.7
Oswald, G.L.8
Symoens, S.9
Manouvrier, S.10
Roberts, A.E.11
Faravelli, F.12
Alba, G.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, P.A.M.20
Dietz, H.C.21
more..
-
3
-
-
3543013177
-
Heterozygous TGFBR2 mutations in Marfan syndrome
-
DOI 10.1038/ng1392
-
Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004;36(8):855-860. (Pubitemid 39014103)
-
(2004)
Nature Genetics
, vol.36
, Issue.8
, pp. 855-860
-
-
Mizuguchi, T.1
Collod-Beroud, G.2
Akiyama, T.3
Abifadel, M.4
Harada, N.5
Morisaki, T.6
Allard, D.7
Varret, M.8
Claustres, M.9
Morisaki, H.10
Ihara, M.11
Kinoshita, A.12
Yoshiura, K.-I.13
Junien, C.14
Kajii, T.15
Jondeau, G.16
Ohta, T.17
Kishino, T.18
Furukawa, Y.19
Nakamura, Y.20
Niikawa, N.21
Boileau, C.22
Matsumoto, N.23
more..
-
4
-
-
23044438103
-
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections
-
DOI 10.1161/CIRCULATIONAHA.105.537340
-
Pannu H, Fadulu VT, Chang J, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005;112(4):513-520. (Pubitemid 41060791)
-
(2005)
Circulation
, vol.112
, Issue.4
, pp. 513-520
-
-
Pannu, H.1
Fadulu, V.T.2
Chang, J.3
Lafont, A.4
Hasham, S.N.5
Sparks, E.6
Giampietro, P.F.7
Zaleski, C.8
Estrera, A.L.9
Safi, H.J.10
Shete, S.11
Willing, M.C.12
Raman, C.S.13
Milewicz, D.M.14
-
5
-
-
33845882724
-
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders
-
DOI 10.1007/s10038-006-0078-1
-
Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet. 2007;52(1):1-12. (Pubitemid 46020559)
-
(2007)
Journal of Human Genetics
, vol.52
, Issue.1
, pp. 1-12
-
-
Mizuguchi, T.1
Matsumoto, N.2
-
6
-
-
58149242697
-
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome
-
Aalberts JJ, van den Berg MP, Bergman JE, et al. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J. 2008;16(9):299-304.
-
(2008)
Neth Heart J
, vol.16
, Issue.9
, pp. 299-304
-
-
Aalberts, J.J.1
Van Den Berg, M.P.2
Bergman, J.E.3
-
7
-
-
55949104588
-
Milia: A review and classification
-
Berk DR, Bayliss SJ. Milia: a review and classification. J Am Acad Dermatol. 2008;59(6):1050-1063.
-
(2008)
J Am Acad Dermatol
, vol.59
, Issue.6
, pp. 1050-1063
-
-
Berk, D.R.1
Bayliss, S.J.2
-
8
-
-
33846370126
-
Early surgical experience with Loeys-Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease
-
Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg. 2007;83(2):S757-S763, S785-S790.
-
(2007)
Ann Thorac Surg
, vol.83
, Issue.2
-
-
Williams, J.A.1
Loeys, B.L.2
Nwakanma, L.U.3
-
9
-
-
0019841371
-
The Rombo syndrome: A familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis
-
Michaëlsson G, Olsson E, Westermark P. The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol. 1981;61(6):497-503. (Pubitemid 12246784)
-
(1981)
Acta Dermato-Venereologica
, vol.61
, Issue.6
, pp. 497-503
-
-
Michaelsson, G.1
Olsson, E.2
Westermark, P.3
|