Milewicz DM - Search Results

1

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Kim C, Milewicz DM. Guo DC, et al. Among authors: milewicz dm. Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910461 Free PMC article.

2

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

Milewicz DM, Pyeritz RE, Crawford ES, Byers PH. Milewicz DM, et al. J Clin Invest. 1992 Jan;89(1):79-86. doi: 10.1172/JCI115589. J Clin Invest. 1992. PMID: 1729284 Free PMC article.

3

Marfan syndrome. Long-term survival and complications after aortic aneurysm repair.

Finkbohner R, Johnston D, Crawford ES, Coselli J, Milewicz DM. Finkbohner R, et al. Among authors: milewicz dm. Circulation. 1995 Feb 1;91(3):728-33. doi: 10.1161/01.cir.91.3.728. Circulation. 1995. PMID: 7828300

4

Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

Milewicz DM, Duvic M. Milewicz DM, et al. Am J Hum Genet. 1994 Mar;54(3):447-53. Am J Hum Genet. 1994. PMID: 8116614 Free PMC article.

5

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.

Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. Putnam EA, et al. Among authors: milewicz dm. Am J Med Genet. 1996 Mar 29;62(3):233-42. doi: 10.1002/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8882780

6

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

Milewicz DM, Michael K, Fisher N, Coselli JS, Markello T, Biddinger A. Milewicz DM, et al. Circulation. 1996 Dec 1;94(11):2708-11. doi: 10.1161/01.cir.94.11.2708. Circulation. 1996. PMID: 8941093

7

Familial thoracic aortic dilatations and dissections: a case control study.

Biddinger A, Rocklin M, Coselli J, Milewicz DM. Biddinger A, et al. Among authors: milewicz dm. J Vasc Surg. 1997 Mar;25(3):506-11. doi: 10.1016/s0741-5214(97)70261-1. J Vasc Surg. 1997. PMID: 9081132 Free article.

8

Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

Putnam EA, Park ES, Aalfs CM, Hennekam RC, Milewicz DM. Putnam EA, et al. Among authors: milewicz dm. Am J Hum Genet. 1997 Apr;60(4):818-27. Am J Hum Genet. 1997. PMID: 9106527 Free PMC article.

9

Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections.

Milewicz DM, Chen H, Park ES, Petty EM, Zaghi H, Shashidhar G, Willing M, Patel V. Milewicz DM, et al. Am J Cardiol. 1998 Aug 15;82(4):474-9. doi: 10.1016/s0002-9149(98)00364-6. Am J Cardiol. 1998. PMID: 9723636

10

Familial thoracic aortic aneurysms and dissections.

Prahlow JA, Barnard JJ, Milewicz DM. Prahlow JA, et al. Among authors: milewicz dm. J Forensic Sci. 1998 Nov;43(6):1244-9. J Forensic Sci. 1998. PMID: 9846406

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