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

بواسطة Milewicz, D M
منشور في 1994

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

بواسطة Milewicz, D. M., Duvic, M.
منشور في 1994

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

بواسطة Milewicz, D M, Pyeritz, R E, Crawford, E S, Byers, P H
منشور في 1992

Role of Mechanotransduction in Vascular Biology: Focus on Thoracic Aortic Aneurysms and Dissections

بواسطة Humphrey, J.D., Schwartz, M.A., Tellides, G., Milewicz, D.M.
الحاوية / القاعدة Circ Res (2015)

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

بواسطة Milewicz, D M, Grossfield, J, Cao, S N, Kielty, C, Covitz, W, Jewett, T
منشور في 1995

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

بواسطة Putnam, E A, Park, E S, Aalfs, C M, Hennekam, R C, Milewicz, D M
منشور في 1997

Abnormal fibrillin metabolism in bovine Marfan syndrome.

بواسطة Potter, K. A., Hoffman, Y., Sakai, L. Y., Byers, P. H., Besser, T. E., Milewicz, D. M.
منشور في 1993

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 heter...

بواسطة Milewicz, D M, Witz, A M, Smith, A C, Manchester, D K, Waldstein, G, Byers, P H
منشور في 1993

Comparison of 10 murine models reveals a distinct biomechanical phenotype in thoracic aortic aneurysms

بواسطة Bellini, C., Bersi, M. R., Caulk, A. W., Ferruzzi, J., Milewicz, D. M., Ramirez, F., Rifkin, D. B., Tellides, G., Yanagisawa, H., Humphrey, J. D.
الحاوية / القاعدة J R Soc Interface (2017)

The molecular genetics of Marfan syndrome and related disorders

بواسطة Robinson, P N, Arteaga‐Solis, E, Baldock, C, Collod‐Béroud, G, Booms, P, De Paepe, A, Dietz, H C, Guo, G, Handford, P A, Judge, D P, Kielty, C M, Loeys, B, Milewicz, D M, Ney, A, Ramirez, F, Reinhardt, D P, Tiedemann, K, Whiteman, P, Godfrey, M
منشور في 2006