1 - 25 of 38 results for author:"Milewicz D.M." in Literature citations
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| A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Munot P., Saunders D.E., Milewicz D.M., Regalado E.S., Ostergaard J.R., Braun K.P., Kerr T., Lichtenbelt K.D., Philip S., Rittey C. et al. Brain 135:2506-2514(2012) · Mapped (4) |
| Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. Moller H.U., Fledelius H.C., Milewicz D.M., Regalado E.S., Ostergaard J.R. Br J Ophthalmol 96:1227-1231(2012) · Mapped (4) |
| TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Boileau C., Guo D.C., Hanna N., Regalado E.S., Detaint D., Gong L., Varret M., Prakash S.K., Li A.H., d'Indy H. et al. Nat. Genet. 44:916-921(2012) · Mapped (5) |
| Rare, nonsynonymous variant in the smooth muscle-specific isoform of myosin heavy chain, MYH11, R247C, alters force generation in the aorta and phenotype of smooth muscle cells. Kuang S.Q., Kwartler C.S., Byanova K.L., Pham J., Gong L., Prakash S.K., Huang J., Kamm K.E., Stull J.T., Sweeney H.L. et al. Circ. Res. 110:1411-1422(2012) · Mapped (15) |
| Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Lemaire S.A., McDonald M.L., Guo D.C., Russell L., Miller C.C., Johnson R.J., Bekheirnia M.R., Franco L.M., Nguyen M., Pyeritz R.E. et al. Nat. Genet. 43:996-1000(2011) · Mapped (6) |
| Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms. Regalado E., Medrek S., Tran-Fadulu V., Guo D.C., Pannu H., Golabbakhsh H., Smart S., Chen J.H., Shete S., Kim D.H. et al. Am. J. Med. Genet. A 155A:2125-2130(2011) · Mapped (13) |
| Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Regalado E.S., Guo D.C., Villamizar C., Avidan N., Gilchrist D., McGillivray B., Clarke L., Bernier F., Santos-Cortez R.L., Leal S.M. et al. |
| Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. Kuang S.Q., Guo D.C., Prakash S.K., McDonald M.L., Johnson R.J., Wang M., Regalado E.S., Russell L., Cao J.M., Kwartler C. et al. PLoS Genet. 7:e1002118-e1002118(2011) · Mapped (11) |
| Mutations in myosin light chain kinase cause familial aortic dissections. Wang L., Guo D.C., Cao J., Gong L., Kamm K.E., Regalado E., Li L., Shete S., He W.Q., Zhu M.S. et al. Am. J. Hum. Genet. 87:701-707(2010) · UniProtKB (1) · Mapped (6) |
| De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Milewicz D.M., Ostergaard J.R., Ala-Kokko L.M., Khan N., Grange D.K., Mendoza-Londono R., Bradley T.J., Olney A.H., Ades L., Maher J.F. et al. Am. J. Med. Genet. A 152:2437-2443(2010) · UniProtKB (1) · Mapped (3) |
| TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections. Inamoto S., Kwartler C.S., Lafont A.L., Liang Y.Y., Fadulu V.T., Duraisamy S., Willing M., Estrera A., Safi H., Hannibal M.C. et al. Cardiovasc. Res. 88:520-529(2010) · Mapped (5) |
| Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice. Cao J., Gong L., Guo D.C., Mietzsch U., Kuang S.Q., Kwartler C.S., Safi H., Estrera A., Gambello M.J., Milewicz D.M. Hum. Mol. Genet. 19:1908-1920(2010) · Mapped (12) |
| Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. Villamizar C., Regalado E.S., Fadulu V.T., Hasham S.N., Gupta P., Willing M.C., Kuang S.Q., Guo D., Muilenburg A., Yee R.W. et al. Eur J Med Genet 53:80-84(2010) · Mapped (6) |
| Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. Tran-Fadulu V., Pannu H., Kim D.H., Vick G.W., Lonsford C.M., Lafont A.L., Boccalandro C., Smart S., Peterson K.L., Hain J.Z. et al. J. Med. Genet. 46:607-613(2009) · Mapped (9) |
| Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Guo D.-C., Papke C.L., Tran-Fadulu V., Regalado E.S., Avidan N., Johnson R.J., Kim D.H., Pannu H., Willing M.C., Sparks E. et al. Am. J. Hum. Genet. 84:617-627(2009) · UniProtKB (1) · Mapped (3) |
| Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm. Santiago-Sim T., Mathew-Joseph S., Pannu H., Milewicz D.M., Seidman C.E., Seidman J.G., Kim D.H. Stroke 40:1604-1611(2009) · Mapped (33) |
| An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease. Guo D.C., Gupta P., Tran-Fadulu V., Guidry T.V., Leduc M.S., Schaefer F.V., Milewicz D.M. J. Hum. Genet. 53:1007-1011(2008) · Mapped (6) |
| Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Guo D.-C., Pannu H., Tran-Fadulu V., Papke C.L., Yu R.K., Avidan N., Bourgeois S., Estrera A.L., Safi H.J., Sparks E. et al. |
| MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Pannu H., Tran-Fadulu V., Papke C.L., Scherer S., Liu Y., Presley C., Guo D., Estrera A.L., Safi H.J., Brasier A.R. et al. Hum. Mol. Genet. 16:2453-2462(2007) · Mapped (27) |
| Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. LeMaire S.A., Pannu H., Tran-Fadulu V., Carter S.A., Coselli J.S., Milewicz D.M. Nat Clin Pract Cardiovasc Med 4:167-171(2007) · Mapped (5) |
| The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms. Pannu H., Kim D.H., Guo D., King T.M., Van Ginhoven G., Chin T., Chang K., Qi Y., Shete S., Milewicz D.M. J. Neurosurg. 105:418-423(2006) · Mapped (14) |
| Aneurysm syndromes caused by mutations in the TGF-beta receptor. 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. et al. N. Engl. J. Med. 355:788-798(2006) · UniProtKB (1) · Mapped (8) |
| Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Pannu H., Fadulu V.T., Chang J., Lafont A., Hasham S.N., Sparks E., Giampietro P.F., Zaleski C., Estrera A.L., Safi H.J. et al. |
| Treatment of aortic disease in patients with Marfan syndrome. Milewicz D.M., Dietz H.C., Miller D.C. Circulation 111:e150-7(2005) |
| Small interfering RNA inhibition of SPARC attenuates the profibrotic effect of transforming growth factor beta1 in cultured normal human fibroblasts. Zhou X., Tan F.K., Guo X., Wallis D., Milewicz D.M., Xue S., Arnett F.C. Arthritis Rheum. 52:257-261(2005) · Mapped (14) |