Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles.
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Kalinousky AJ, Luperchio TR, Schrode KM, Harris JR, Zhang L, DeLeon VB, Fahrner JA, Lauer AM, Bjornsson HT. KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans. Genes (Basel). 2023 12 28; 15(1).
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Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. Hum Mol Genet. 2023 09 16; 32(19):2913-2928.
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Hinton CF, Siffel C, Correa A, Shapira SK. Survival Disparities Associated with Congenital Diaphragmatic Hernia. Birth Defects Res. 2017 Jul 03; 109(11):816-823.
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Ortega MA, Ko M, Marh J, Finberg A, Oshiro M, Ward WS. Presence of the Paternal Pronucleus Assists Embryo in Overcoming Cycloheximide Induced Abnormalities in Zygotic Mitosis. J Cell Biochem. 2016 08; 117(8):1806-12.
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McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 11 19; 1:15071.
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Seixas C, Choi SY, Polgar N, Umberger NL, East MP, Zuo X, Moreiras H, Ghossoub R, Benmerah A, Kahn RA, Fogelgren B, Caspary T, Lipschutz JH, Barral DC. Arl13b and the exocyst interact synergistically in ciliogenesis. Mol Biol Cell. 2016 Jan 15; 27(2):308-20.
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Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet. 2015 Aug 01; 24(15):4443-53.
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McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014 May 01; 94(5):734-44.
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Ramsey KW, Slavin TP, Graham G, Hirata GI, Balaraman V, Seaver LH. Monozygotic twins discordant for trisomy 13. J Perinatol. 2012 Apr; 32(4):306-8.
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Hartman RJ, Rasmussen SA, Botto LD, Riehle-Colarusso T, Martin CL, Cragan JD, Shin M, Correa A. The contribution of chromosomal abnormalities to congenital heart defects: a population-based study. Pediatr Cardiol. 2011 Dec; 32(8):1147-57.