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

Yazar: Milewicz, D M
Baskı/Yayın Bilgisi 1994

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

Yazar: Milewicz, D. M., Duvic, M.
Baskı/Yayın Bilgisi 1994

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

Yazar: Milewicz, D M, Pyeritz, R E, Crawford, E S, Byers, P H
Baskı/Yayın Bilgisi 1992

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

Yazar: Humphrey, J.D., Schwartz, M.A., Tellides, G., Milewicz, D.M.
Yayımlandı Circ Res (2015)

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

Yazar: Milewicz, D M, Grossfield, J, Cao, S N, Kielty, C, Covitz, W, Jewett, T
Baskı/Yayın Bilgisi 1995

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

Yazar: Putnam, E A, Park, E S, Aalfs, C M, Hennekam, R C, Milewicz, D M
Baskı/Yayın Bilgisi 1997

Abnormal fibrillin metabolism in bovine Marfan syndrome.

Yazar: Potter, K. A., Hoffman, Y., Sakai, L. Y., Byers, P. H., Besser, T. E., Milewicz, D. M.
Baskı/Yayın Bilgisi 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...

Yazar: Milewicz, D M, Witz, A M, Smith, A C, Manchester, D K, Waldstein, G, Byers, P H
Baskı/Yayın Bilgisi 1993

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

Yazar: 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.
Yayımlandı J R Soc Interface (2017)

The molecular genetics of Marfan syndrome and related disorders

Yazar: 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
Baskı/Yayın Bilgisi 2006