Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles.
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Shi X, Garcia G, Van De Weghe JC, McGorty R, Pazour GJ, Doherty D, Huang B, Reiter JF. Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert?syndrome. Nat Cell Biol. 2017 Oct; 19(10):1178-1188.
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Rao KN, Zhang W, Li L, Anand M, Khanna H. Prenylated retinal ciliopathy protein RPGR interacts with PDE6d and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. Hum Mol Genet. 2016 10 15; 25(20):4533-4545.
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Damerla RR, Cui C, Gabriel GC, Liu X, Craige B, Gibbs BC, Francis R, Li Y, Chatterjee B, San Agustin JT, Eguether T, Subramanian R, Witman GB, Michaud JL, Pazour GJ, Lo CW. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. Hum Mol Genet. 2015 Jul 15; 24(14):3994-4005.
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Anderson RH, Cook A, Brown NA, Henderson DJ, Chaudhry B, Mohun T. Development of the outflow tracts with reference to aortopulmonary windows and aortoventricular tunnels. Cardiol Young. 2010 Dec; 20 Suppl 3:92-9.
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Stern DR, Steiner C, Bello RA, Sutton N, Spevack DM, Leyvi G, Michler RE, D'Alessandro DA, Weinstein S. Congenitally corrected transposition of the great arteries and concomitant coronary artery and valvular disease in the adult patient. Congenit Heart Dis. 2010 Nov-Dec; 5(6):629-34.
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Fleming KF, Wu JJ, Dyson SW, Dadras SS, Metz BJ. Denuded congenital lesions: recessive dystrophic epidermolysis bullosa. Dermatol Online J. 2009 Apr 15; 15(4):4.
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Haleblian G, Kraklau D, Wilcox D, Duffy P, Ransley P, Mushtaq I. Y-type urethral duplication in the male. BJU Int. 2006 Mar; 97(3):597-602.
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Drosou A, Benjamin L, Linfante I, Mallin K, Trowers A, Wakhloo AK, Thaller SR, Schachner LA. Infantile midline facial hemangioma with agenesis of the corpus callosum and sinus pericranii: another face of the PHACE syndrome. J Am Acad Dermatol. 2006 Feb; 54(2):348-52.
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Nwosu BU, Raygada M, Tsilou ET, Rennert OM, Stratakis CA. Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation. Ophthalmic Genet. 2005 Sep; 26(3):135-8.
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Weiss G, Confino Y, Shemer A, Trau H. Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. J Eur Acad Dermatol Venereol. 2004 May; 18(3):324-7.