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De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
Cell Rep. 2014 Oct 9;9(1):16-23. doi: 10.1016/j.celrep.2014.08.068. Epub 2014 Oct 2.
Cell Rep. 2014.
PMID: 25284784
Free PMC article.
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW.
Sanders SJ, et al. Among authors: dicola m.
Neuron. 2011 Jun 9;70(5):863-85. doi: 10.1016/j.neuron.2011.05.002.
Neuron. 2011.
PMID: 21658581
Free PMC article.
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Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome.
Davis BR, Dicola MJ, Prokopishyn NL, Rosenberg JB, Moratto D, Muul LM, Candotti F, Michael Blaese R.
Davis BR, et al. Among authors: dicola mj.
Blood. 2008 May 15;111(10):5064-7. doi: 10.1182/blood-2007-06-095299. Epub 2008 Mar 10.
Blood. 2008.
PMID: 18332229
Free PMC article.
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Mode of action of RNA/DNA oligonucleotides: progress in the development of gene repair as a therapy for alpha(1)-antitrypsin deficiency.
Metz R, DiCola M, Kurihara T, Bailey A, Frank B, Roecklein B, Blaese M.
Metz R, et al. Among authors: dicola m.
Chest. 2002 Mar;121(3 Suppl):91S-97S. doi: 10.1378/chest.121.3_suppl.91s.
Chest. 2002.
PMID: 11893721
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