Abnormalities, Multiple
This graph shows the total number of publications written about "Abnormalities, Multiple" by people in the URMC Research Network by year, and whether "Abnormalities, Multiple" was a major or minor topic of these publication.
Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles.
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Al-Owain M, Kaya N, Al-Zaidan H, Bin Hussain I, Al-Manea H, Al-Hindi H, Kennedy S, Iqbal MA, Al-Mojalli H, Al-Bakheet A, Puel A, Casanova JL, Al-Muhsen S. Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy. Clin Dev Immunol. 2010; 2010:586342.
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Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010 Mar; 47(3):155-61.
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Aggarwal K, Gupta S, Jain VK, Sen J, Nanda S. Klippel-Trenaunay syndrome in a newborn with multiple congenital anomalies. Indian J Dermatol Venereol Leprol. 2009 Sep-Oct; 75(5):552.
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Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33.
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Malhotra A, Westesson PL. Loeys-Dietz syndrome. Pediatr Radiol. 2009 Sep; 39(9):1015.
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Panthagani ID, Santos MC, D'Angio CT. Use of computed tomography to categorize the type of tracheal agenesis. J Pediatr Surg. 2009 May; 44(5):1044-6.
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Robinson DM, Meagher CC, Orlowski CC, Lagoe EC, Fong CT. Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome? Am J Med Genet A. 2008 Jun 15; 146A(12):1571-4.
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Iqbal MA, Al-Owain M. Interstitial del(20)(q11.2q12) - clinical and molecular cytogenetic characterization. Am J Med Genet A. 2007 Aug 15; 143A(16):1880-4.
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Ferdman B, States L, Gaynor JW, Hedrick HL, Rychik J. Abnormalities of intestinal rotation in patients with congenital heart disease and the heterotaxy syndrome. Congenit Heart Dis. 2007 Jan-Feb; 2(1):12-8.
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Katzman PJ, Smoot LB, Cox GF. Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis. Pediatr Dev Pathol. 2006 Jul-Aug; 9(4):266-79.
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