Literature for DOID 520: aortic disease
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Denotes literature images)
Xenopus fibrillin regulates directed convergence and extension.,
Skoglund P,Keller R,
Dev Biol. January 15, 2007; 301(2):1095-564X.
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A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.,
Rienhoff HY,Yeo CY,Morissette R,Khrebtukova I,Melnick J,Luo S,Leng N,Kim YJ,Schroth G,Westwick J,Vogel H,McDonnell N,Hall JG,Whitman M,
Am J Med Genet A. August 1, 2013; 161A(8):1552-4833.
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A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs.,
Stern JA,White SN,Lehmkuhl LB,Reina-Doreste Y,Ferguson JL,Nascone-Yoder NM,Meurs KM,
Hum Genet. September 1, 2014; 133(9):1432-1203.
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Conservation and divergence of protein pathways in the vertebrate heart.,
Federspiel JD,Tandon P,Wilczewski CM,Wasson L,Herring LE,Venkatesh SS,Cristea IM,Conlon FL,
PLoS Biol. September 6, 2019; 17(9):1545-7885.
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Genetic models of fibrillinopathies.,
Summers KM,
Genetics. January 3, 2024; 226(1):1943-2631.
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