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142 results

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Page 1
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium; Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM. Bennett JT, et al. Among authors: moog u. Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006. Am J Hum Genet. 2016. PMID: 26942290 Free PMC article.
Brain anomalies in encephalocraniocutaneous lipomatosis.
Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Moog U, et al. Am J Med Genet A. 2007 Dec 15;143A(24):2963-72. doi: 10.1002/ajmg.a.32074. Am J Med Genet A. 2007. PMID: 18000987
Encephalocraniocutaneous lipomatosis.
Moog U. Moog U. J Med Genet. 2009 Nov;46(11):721-9. doi: 10.1136/jmg.2009.066068. Epub 2009 Jul 1. J Med Genet. 2009. PMID: 19574261 Review.
Rett syndrome: a study of the face.
Allanson JE, Hennekam RC, Moog U, Smeets EE. Allanson JE, et al. Among authors: moog u. Am J Med Genet A. 2011 Jul;155A(7):1563-7. doi: 10.1002/ajmg.a.34027. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626673
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Moog U, et al. J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27. J Med Genet. 2011. PMID: 21954287
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA. Nowaczyk MJ, et al. Among authors: moog u. Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2. Clin Genet. 2014. PMID: 23379592 Free PMC article.
PIK3R1 mutations in SHORT syndrome.
Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Döbler-Neumann M, Wieser S, Moog U, Tzschach A. Schroeder C, et al. Among authors: moog u. Clin Genet. 2014 Sep;86(3):292-4. doi: 10.1111/cge.12263. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 23980586
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM. Alcantara D, et al. Among authors: moog u. Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203. Brain. 2017. PMID: 28969385 Free PMC article.
142 results