Nonsense mutations and altered splice-site selection.

Por Dietz, H C
Publicado em 1997

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct...

Por Aoyama, T, Francke, U, Dietz, H C, Furthmayr, H
Publicado em 1994

Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.

Por Eldadah, Z A, Brenn, T, Furthmayr, H, Dietz, H C
Publicado em 1995

Mammalian orthologues of a yeast regulator of nonsense transcript stability.

Por Perlick, H A, Medghalchi, S M, Spencer, F A, Kendzior, R J, Dietz, H C
Publicado em 1996

Preimplantation Genetic Diagnosis of Human Embryos for Marfan's Syndrome

Por Blaszczyk, A., Tang, Y. X., Dietz, H. C., Adler, A., Berkeley, A. S., Krey, L. C., Grifo, J. A.
Publicado em 1998

Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.

Por Jin, Y, Dietz, H C, Montgomery, R A, Bell, W R, McIntosh, I, Coller, B, Bray, P F
Publicado em 1996

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

Por Nogee, L M, Garnier, G, Dietz, H C, Singer, L, Murphy, A M, deMello, D E, Colten, H R
Publicado em 1994

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

Por Montgomery, R A, Geraghty, M T, Bull, E, Gelb, B D, Johnson, M, McIntosh, I, Francomano, C A, Dietz, H C
Publicado em 1998

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

Por Nijbroek, G, Sood, S, McIntosh, I, Francomano, C A, Bull, E, Pereira, L, Ramirez, F, Pyeritz, R E, Dietz, H C
Publicado em 1995

Endothelial dysfunction and compromised eNOS/Akt signaling in the thoracic aorta during the progression of Marfan syndrome

Por Chung, A W Y, Au Yeung, K, Cortes, S F, Sandor, G G S, Judge, D P, Dietz, H C, van Breemen, C
Publicado em 2007

The Haploinsufficient Col3a1 Mouse as a Model for Vascular Ehlers-Danlos Syndrome

Por Cooper, T. K., Zhong, Q., Krawczyk, M., Tae, H-J., Müller, G. A., Schubert, R., Myers, L. A., Dietz, H. C., Talan, M. I., Briest, W.
Publicado em 2010

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

Por Dietz, H C, Pyeritz, R E, Puffenberger, E G, Kendzior, R J, Corson, G M, Maslen, C L, Sakai, L Y, Francomano, C A, Cutting, G R
Publicado em 1992

The molecular genetics of Marfan syndrome and related disorders

Por 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
Publicado em 2006

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

Por Loeys, B.L., Gerber, E.E., Riegert-Johnson, D., Iqbal, S., Whiteman, P., McConnell, V., Chillakuri, C.R., Macaya, D., Coucke, P.J., De Paepe, A., Judge, D.P., Wigley, F., Davis, E.C., Mardon, H.J., Handford, P., Keene, D.R., Sakai, L.Y., Dietz, H.C.
Publicado em 2010

GenTAC Registry Report: Gender Differences Among Individuals with Genetically-Triggered Thoracic Aortic Aneurysm and Dissection

Por Holmes, Kathryn W., Maslen, Cheryl L., Kindem, Mark, Kroner, Barbara L., Song, Howard K., Ravekes, William, Dietz, H.C., Weinsaft, Jonathan W., Roman, Mary J., Devereux, Richard B., Pyeritz, Reed E., Bavaria, Joseph, Milewski, Karianna, Milewicz, Dianna, LeMaire, Scott A., Hendershot, Tabitha, Eagle, Kim A., Tolunay, H. Eser, Desvigne-Nickens, Patrice, Silberbach, Michael
Publicado em 2013

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Por Faivre, L. , Collod-Beroud, G. , Loeys, B. L. , Child, A. , Binquet, C. , Gautier, E. , Callewaert, B. , Arbustini, E. , Mayer, K. , Arslan-Kirchner, M. , Kiotsekoglou, A. , Comeglio, P. , Marziliano, N. , Dietz, H. C. , Halliday, D. , Beroud, C. , Bonithon-Kopp, C. , Claustres, M. , Muti, C. , Plauchu, H. , Robinson, P. N. , Adès, L. C. , Biggin, A. , Benetts, B. , Brett, M. , Holman, K. J. , De Backer, J. , Coucke, P. , Francke, U. , De Paepe, A. , Jondeau, G. , Boileau, C. 
Publicado em 2007

Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

Por Lacro, R.V., Dietz, H.C., Sleeper, L.A., Yetman, A.T., Bradley, T.J., Colan, S.D., Pearson, G.D., Tierney, E.S. Selamet, Levine, J.C., Atz, A.M., Benson, D.W., Braverman, A.C., Chen, S., De Backer, J., Gelb, B.D., Grossfeld, P.D., Klein, G.L., Lai, W.W., Liou, A., Loeys, B.L., Markham, L.W., Olson, A.K., Paridon, S.M., Pemberton, V.L., Pierpont, M.E., Pyeritz, R.E., Radojewski, E., Roman, M.J., Sharkey, A.M., Stylianou, M.P., Wechsler, S. Burns, Young, L.T., Mahony, L.
Publicado no N Engl J Med (2014)