Milewicz D - Search Results

1

Turner syndrome-specific and general population Z-scores are equivalent for most adults with Turner syndrome.

Prakash S; GenTAC Registry Investigators; Milewicz D. Prakash S, et al. Among authors: milewicz d. Am J Med Genet A. 2017 Apr;173(4):1094-1096. doi: 10.1002/ajmg.a.38100. Am J Med Genet A. 2017. PMID: 28328137 No abstract available.

2

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

3

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.

Park ES, Putnam EA, Chitayat D, Child A, Milewicz DM. Park ES, et al. Among authors: milewicz dm. Am J Med Genet. 1998 Jul 24;78(4):350-5. Am J Med Genet. 1998. PMID: 9714438

4

FBN1 exon 2 splicing error in a patient with Marfan syndrome.

Guo D, Tan FK, Cantu A, Plon SE, Milewicz DM. Guo D, et al. Among authors: milewicz dm. Am J Med Genet. 2001 Jun 15;101(2):130-4. doi: 10.1002/1096-8628(20010615)101:2<130::aid-ajmg1333>3.0.co;2-v. Am J Med Genet. 2001. PMID: 11391655

5

Genetic basis of thoracic aortic aneurysms and aortic dissections.

Pannu H, Tran-Fadulu V, Milewicz DM. Pannu H, et al. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):10-6. doi: 10.1002/ajmg.c.30069. Am J Med Genet C Semin Med Genet. 2005. PMID: 16273536 Review.

6

Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women.

Tran-Fadulu V, Chen JH, Lemuth D, Neichoy BT, Yuan J, Gomes N, Sparks E, Kramer LA, Guo D, Pannu H, Braverman AC, Shete S, Milewicz DM. Tran-Fadulu V, et al. Among authors: milewicz dm. Am J Med Genet A. 2006 Jun 1;140(11):1196-202. doi: 10.1002/ajmg.a.31236. Am J Med Genet A. 2006. PMID: 16646045

7

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM. Guo DC, et al. Among authors: milewicz dm. Nat Genet. 2007 Dec;39(12):1488-93. doi: 10.1038/ng.2007.6. Epub 2007 Nov 11. Nat Genet. 2007. PMID: 17994018

8

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM. Tran-Fadulu V, et al. Among authors: milewicz dm. J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844. Epub 2009 Jun 18. J Med Genet. 2009. PMID: 19542084

9

FBN1 mutations in patients with descending thoracic aortic dissections.

Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW. Brautbar A, et al. Am J Med Genet A. 2010 Feb;152A(2):413-6. doi: 10.1002/ajmg.a.32856. Am J Med Genet A. 2010. PMID: 20082464 Free PMC article.

10

Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.

Prakash S, LeMaire SA, Bray M, Milewicz DM, Belmont JW. Prakash S, et al. Am J Med Genet A. 2010 Sep;152A(9):2399-405. doi: 10.1002/ajmg.a.33571. Am J Med Genet A. 2010. PMID: 20683997 Free PMC article. No abstract available.

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