Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles.
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Riordan CP, Lyon HN, McIntyre JK. Craniosynostosis of the Metopic Suture in a Patient With CADASIL/Lehman Syndrome. J Craniofac Surg. 2021 Nov-Dec 01; 32(8):e737-e739.
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Gupta A, Sanville J, Menz T, Warner N, Muise AM, Fiedler K, Mart?n MG, Padbury J, Phornphutkul C, Sanchez-Esteban J, Cerezo CS. Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis. J Pediatr Gastroenterol Nutr. 2019 Jun; 68(6):e106-e108.
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Rana M, Mohanty M. The spectrum of sleep disordered breathing in Joubert Syndrome. Sleep Med. 2018 12; 52:177-179.
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Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hern?ndez PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662.
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Nagarajan K, Swamiappan E, Anbazhagan S, Dalal A, Adithan S, Krings T. "Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report. Interv Neuroradiol. 2018 Aug; 24(4):463-468.
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Golestaneh S, Kashef MA, Hiser WL, Lotfi AS, Egan TG. Ruptured Sinus of Valsalva Aneurysm Associated with Situs Ambiguus, Isolated Levocardia, and Polysplenia. Tex Heart Inst J. 2017 12; 44(6):416-419.
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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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Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-P?rez V, Goldstein JS, Pasquier L, Loget P, Saunier S, M?garban? A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivi?re JB, Faivre L, Thauvin-Robinet C. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. J Med Genet. 2017 06; 54(6):371-380.
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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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Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. Am J Med Genet A. 2016 12; 170(12):3313-3318.