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

di Milewicz, D M
Pubblicazione 1994

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

di Milewicz, D. M., Duvic, M.
Pubblicazione 1994

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

di Milewicz, D M, Pyeritz, R E, Crawford, E S, Byers, P H
Pubblicazione 1992

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

di Humphrey, J.D., Schwartz, M.A., Tellides, G., Milewicz, D.M.
Pubblicato in Circ Res (2015)

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

di Milewicz, D M, Grossfield, J, Cao, S N, Kielty, C, Covitz, W, Jewett, T
Pubblicazione 1995

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

di Putnam, E A, Park, E S, Aalfs, C M, Hennekam, R C, Milewicz, D M
Pubblicazione 1997

Abnormal fibrillin metabolism in bovine Marfan syndrome.

di Potter, K. A., Hoffman, Y., Sakai, L. Y., Byers, P. H., Besser, T. E., Milewicz, D. M.
Pubblicazione 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...

di Milewicz, D M, Witz, A M, Smith, A C, Manchester, D K, Waldstein, G, Byers, P H
Pubblicazione 1993

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

di 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.
Pubblicato in J R Soc Interface (2017)

The molecular genetics of Marfan syndrome and related disorders

di 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
Pubblicazione 2006