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 von 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.

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The molecular genetics of Marfan syndrome and related disorders von 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

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Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1 von Rodrigues, V.J, Elsayed, S, Loeys, B.L, Dietz, H.C, Yousem, D.M

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Nonsense-Mediated mRNA Decay in Health and Disease von Frischmeyer, Pamela A., Dietz, Harry C.

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Endothelial dysfunction and compromised eNOS/Akt signaling in the thoracic aorta during the progression of Marfan syndrome von Chung, A W Y, Au Yeung, K, Cortes, S F, Sandor, G G S, Judge, D P, Dietz, H C, Breemen, C

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Small-scale screening of novel biobased monomers: the curious case of 1,3-cyclopentanediol von Noordzij, G J, Dietz, C H J T, Leoné, N, Wilsens, C H R M, Rastogi, S

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Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders von DIETZ, H. C, PYERITZ, R. E

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Extracellular microfibrils in development and disease von Ramirez, F, Sakai, L. Y, Rifkin, D. B, Dietz, H. C

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GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection von 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

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Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions von Holmes, Kathryn W, Markwardt, Sheila, Eagle, Kim A, Devereux, Richard B, Weinsaft, Jonathan W, Asch, Federico M, LeMaire, Scott A, Maslen, Cheryl L, Song, Howard K, Milewicz, Dianna M, Prakash, Siddharth K, Guo, Dongchuan, Morris, Shaine A, Pyeritz, Reed E, Milewski, Rita C, Ravekes, William J, Dietz, H C, Shohet, Ralph V, Silberbach, Michael, Roman, Mary J

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A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds von NOGEE, L. M, GARNIER, G, DIETZ, H. C, SINGER, L, MURPHY, A. M, DEMELLO, D. E, COLTEN, H. R

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Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome von Pereira, Lygia, Andrikopoulos, Konstantinos, Tian, Jenny, Lee, Sui Ying, Keene, Douglas R, Ono, Robert, Reinhardt, Dieter P, Sakai, Lynn Y, Biery, Nancy Jensen, Bunton, Tracie, Dietz, Harry C, Ramirez, Francesco

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Novel Upf2p Orthologues Suggest a Functional Link between Translation Initiation and Nonsense Surveillance Complexes von Mendell, Joshua T., Medghalchi, Susan M., Lake, Ross G., Noensie, Erick N., Dietz, Harry C.

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Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome von Busnadiego, O, Gorbenko del Blanco, D, González-Santamaría, J, Habashi, J.P, Calderon, J.F, Sandoval, P, Bedja, D, Guinea-Viniegra, J, Lopez-Cabrera, M, Rosell-Garcia, T, Snabel, J.M, Hanemaaijer, R, Forteza, A, Dietz, H.C, Egea, G, Rodriguez-Pascual, F

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Exosome-Mediated Recognition and Degradation of mRNAs Lacking a Termination Codon von van Hoof, Ambro, Frischmeyer, Pamela A., Dietz, Harry C., Parker, Roy

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Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases : Hypertrophic cardiomyopathy, long-QT syndrome, an... von MARON, B. J, MOLLER, J. H, EPSTEIN, A. E, SEIDMAN, C. E, VINCENT, G. M, DIETZ, H. C, MOSS, A. J, TOWBIN, J. A, SONDHEIMER, H. M, PYERITZ, R. E, MCGEE, G

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When the Message Goes Awry: Disease-Producing Mutations that Influence mRNA Content and Performance von Mendell, Joshua T, Dietz, Harry C

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An mRNA Surveillance Mechanism That Eliminates Transcripts Lacking Termination Codons von Frischmeyer, Pamela A., van Hoof, Ambro, O'Donnell, Kathryn, Guerrerio, Anthony L., Parker, Roy, Dietz, Harry C.

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The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations von Dietz, Harry C., Valle, David, Francomano, Clair A., Kendzior, Raymond J., Pyeritz, Reed E., Cutting, Garry R.

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Both the wild type and a functional isoform of CFTR are expressed in kidney von Morales, M. M, Carroll, T. P, Morita, T, Schwiebert, E. M, Devuyst, O, Wilson, P. D, Lopes, A. G, Stanton, B. A, Dietz, H. C, Cutting, G. R, Guggino, W. B

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