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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. Loeys BL, et al. Among authors: judge dp. Nat Genet. 2005 Mar;37(3):275-81. doi: 10.1038/ng1511. Epub 2005 Jan 30. Nat Genet. 2005. PMID: 15731757 Free article.
Marfan's syndrome.
Judge DP, Dietz HC. Judge DP, et al. Lancet. 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6. Lancet. 2005. PMID: 16325700 Free PMC article. Review.
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome.
Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC. Habashi JP, et al. Among authors: judge dp. Science. 2006 Apr 7;312(5770):117-21. doi: 10.1126/science.1124287. Science. 2006. PMID: 16601194 Free PMC article.
Therapy of Marfan syndrome.
Judge DP, Dietz HC. Judge DP, et al. Annu Rev Med. 2008;59:43-59. doi: 10.1146/annurev.med.59.103106.103801. Annu Rev Med. 2008. PMID: 17845137 Review.
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome.
Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC 3rd. Brooke BS, et al. Among authors: judge dp. N Engl J Med. 2008 Jun 26;358(26):2787-95. doi: 10.1056/NEJMoa0706585. N Engl J Med. 2008. PMID: 18579813 Free PMC article. Clinical Trial.
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC. Loeys BL, et al. Among authors: judge dp. Sci Transl Med. 2010 Mar 17;2(23):23ra20. doi: 10.1126/scitranslmed.3000488. Sci Transl Med. 2010. PMID: 20375004 Free PMC article.
252 results