Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension von Wallace, S., Guo, D.-C., Regalado, E., Mellor-Crummey, L., Bamshad, M., Nickerson, D.A., Dauser, R., Hanchard, N., Marom, R., Martin, E., Berka, V., Sharina, I., Ganesan, V., Saunders, D., Morris, S.A., Milewicz, D.M.

Volltext

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections von Regalado, E.S., Guo, D.C., Santos-Cortez, R.L.P., Hostetler, E., Bensend, T.A., Pannu, H., Estrera, A., Safi, H., Mitchell, A.L., Evans, J.P., Leal, S.M., Bamshad, M., Shendure, J., Nickerson, D.A., Milewicz, D.M.

Volltext

Role of mechanotransduction in vascular biology: focus on thoracic aortic aneurysms and dissections von Humphrey, Jay D, Schwartz, Martin A, Tellides, George, Milewicz, Dianna M

Volltext

Atherosclerosis in Sporadic Ascending Aortic Aneurysms von Albini, P.T, Wu, D, Segura, A.M, Liu, G, Song, J, Zhang, L, Coselli, J.S, Milewicz, D.M, Shen, Y.H, LeMaire, S.A

Volltext

Matrix Metalloproteinase Levels Are Elevated in Patients with Marfan Syndrome and Chronic Descending Thoracic Aortic Dissection von LeMaire, S.A, Lu, X, Hou, X, Russell, L, Milewicz, D.M, Belmont, J.W, Adams, G.J, Shen, Y.H, Coselli, J.S

Volltext

R179H mutation in ACTA2 expanding the phenotype to include prune‐belly sequence and skin manifestations von Richer, J., Milewicz, D.M., Gow, R., de Nanassy, J., Maharajh, G., Miller, E., Oppenheimer, L., Weiler, G., O'Connor, M.

Volltext

Methodology for using a universal primer to label amplified DNA segments for molecular analysis von GUO, Dong-Chuan, MILEWICZ, Dianna M

Volltext

Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15 von MILEWICZ, D. M, DUVIC, M

Volltext

High throughput detection of small genomic insertions or deletions by Pyrosequencing von GUO, Dong-Chuan, YUHUA QI, RUMIN HE, GUPTA, Prateek, MILEWICZ, Dianna M

Volltext

International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research... von Michelena, H.I., Corte, A. della, Evangelista, A., Maleszewski, J.J., Edwards, W.D., Roman, M.J., Devereux, R.B., Fernandez, B., Asch, F.M., Barker, A.J., Sierra-Galan, L.M., Kerchove, L. de, Fernandes, S.M., Fedak, P.W.M., Girdauskas, E., Delgado, V., Abbara, S., Lansac, E., Prakash, S.K., Bissell, M.M., Popescu, B.A., Hope, M.D., Sitges, M., Thourani, V.H., Pibarot, P., Chandrasekaran, K., Lancellotti, P., Borger, M.A., Forrest, J.K., Webb, J., Milewicz, D.M., Makkar, R., Leon, M.B., Sanders, S.P., Markl, M., Ferrari, V.A., Roberts, W.C., Song, J.K., Blanke, P., White, C.S., Siu, S., Svensson, L.G., Braverman, A.C., Bavaria, J., Sundt, T.M., Khoury, G. el, Paulis, R. de, Enriquez-Sarano, M., Bax, J.J., Otto, C.M., Schafers, H.J.

Volltext bestellen

Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2) von Biddinger, A.L., Hecht, J.T., Milewicz, D.M.

Volltext

Shared genetic risk factors of intracranial, abdominal, and thoracic aneurysms von Hof, F.N.G. van't, Ruigrok, Y.M, Lee, C.H, Ripke, S, Anderson, G, Andrade, M. de, Baas, A.F, Blankensteijn, J.D, Böttinger, E.P, Bown, M.J, Broderick, J, Bijlenga, P, Carrell, D.S, Crawford, D.C, Crosslin, D.R, Ebeling, C, Eriksson, J.G, Fornage, M, Foroud, T, Fraunberg, M. von und zu, Friedrich, C.M, Gaál, E.I, Gottesman, O, Guo, D.C, Harrison, S.C, Hernesniemi, J, Hofman, A, Inoue, I, Jääskeläinen, J.E, Jones, G.T, Kiemeney, L.A.L.M, Kivisaari, R, Ko, N, Koskinen, S, Kubo, M, Kullo, I.J, Kuivaniemi, H, Kurki, M.I, Laakso, A, Lai, D, Leal, S.M, Lehto, H, LeMaire, S.A, Low, S.K, Malinowski, J, McCarty, C.A, Milewicz, D.M, Mosley, T.H, Nakamura, Y, Nakaoka, H, Niemelä, M, Pacheco, J, Peissig, P.L, Pera, J, Rasmussen-Torvik, L, Ritchie, M.D, Rivadeneira, F, Rij, A.M. van, Santos-Cortez, R.L.P, Saratzis, A, Slowik, A, Takahashi, A, Tromp, G, Uitterlinden, A.G, Verma, S.S, Vermeulen, S.H, Wang, G.T, Han, B, Rinkel, G.J.E, Bakker, P.I.W. de

Volltext bestellen

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations von Richer, J., Milewicz, D.M., Gow, R., de Nanassy, J., Maharajh, G., Miller, E., Oppenheimer, L., Weiler, G., O'Connor, M.

Volltext