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Items: 6

1.

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P.

Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct.

2.

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.

Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003160. doi: 10.1101/mcs.a003160. Print 2018 Oct.

3.

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.

Hickey SE, Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW.

Am J Med Genet A. 2013 Sep;161A(9):2294-9. doi: 10.1002/ajmg.a.36034. Epub 2013 Jul 29.

PMID:
23897859
4.

Differential effects of 5-HT2C receptor activation by WAY 161503 on nicotine-induced place conditioning and locomotor activity in rats.

Hayes DJ, Mosher TM, Greenshaw AJ.

Behav Brain Res. 2009 Feb 11;197(2):323-30. doi: 10.1016/j.bbr.2008.08.034. Epub 2008 Sep 2.

PMID:
18805442
5.

Cell-type specific induction of tryptophan hydroxylase-2 transcription by calcium mobilization.

Remes Lenicov F, Lemonde S, Czesak M, Mosher TM, Albert PR.

J Neurochem. 2007 Dec;103(5):2047-57. Epub 2007 Sep 14.

6.

Aversive stimulus properties of the 5-HT2C receptor agonist WAY 161503 in rats.

Mosher TM, Smith JG, Greenshaw AJ.

Neuropharmacology. 2006 Sep;51(3):641-50. Epub 2006 Jul 14.

PMID:
16844150

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