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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Stevens SJC, Stumpel CTRM, Diderich KEM, van Slegtenhorst MA, Abbott MA, Manning C, Balciuniene J, Pyle LC, Leonard J, Murrell JR, van de Putte R, van Rooij IALM, Hoischen A, Lasko P, Brunner HG. The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene. Clin Genet. 2022 02; 101(2):183-189.
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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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Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935.
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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.