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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.
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.
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
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.
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
The potential role of the elastic fiber system in adolescent idiopathic scoliosis.
Hadley-Miller N, Mims B, Milewicz DM. Hadley-Miller N, et al. Among authors: milewicz dm. J Bone Joint Surg Am. 1994 Aug;76(8):1193-206. doi: 10.2106/00004623-199408000-00010. J Bone Joint Surg Am. 1994. PMID: 8056800
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.
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
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.
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.
Milewicz DM, Witz AM, Smith AC, Manchester DK, Waldstein G, Byers PH. Milewicz DM, et al. Am J Hum Genet. 1993 Jul;53(1):62-70. Am J Hum Genet. 1993. PMID: 8317500 Free PMC article.
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