Milewicz DM - Search Results

1

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

2

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

Putnam EA, Zhang H, Ramirez F, Milewicz DM. Putnam EA, et al. Among authors: milewicz dm. Nat Genet. 1995 Dec;11(4):456-8. doi: 10.1038/ng1295-456. Nat Genet. 1995. PMID: 7493032

3

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

Milewicz DM, Grossfield J, Cao SN, Kielty C, Covitz W, Jewett T. Milewicz DM, et al. J Clin Invest. 1995 May;95(5):2373-8. doi: 10.1172/JCI117930. J Clin Invest. 1995. PMID: 7738200 Free PMC article.

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

Dolichonychia in a patient with the Marfan syndrome.

Cohen PR, Milewicz DM. Cohen PR, et al. Among authors: milewicz dm. J Dermatol. 1993 Dec;20(12):779-82. doi: 10.1111/j.1346-8138.1993.tb01383.x. J Dermatol. 1993. PMID: 8120241

6

Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.

Milewicz DM. Milewicz DM. Tex Heart Inst J. 1994;21(1):22-9. Tex Heart Inst J. 1994. PMID: 8180508 Free PMC article. Review.

7

Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2).

Biddinger AL, Hecht JT, Milewicz DM. Biddinger AL, et al. Among authors: milewicz dm. Hum Mol Genet. 1993 Aug;2(8):1323. doi: 10.1093/hmg/2.8.1323. Hum Mol Genet. 1993. PMID: 8401518 No abstract available.

8

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

9

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

10

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.

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