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Items: 7

1.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF, Kousi M, van Woerden GM, Klein M, Bralten J, Mancini GMS, van Essen T, Proietti-Onori M, Smeets EEJ, van Gastel M, Stegmann APA, Stevens SJC, Lelieveld SH, Gilissen C, Pfundt R, Tan PL, Kleefstra T, Franke B, Elgersma Y, Katsanis N, Brunner HG.

Nat Commun. 2017 Oct 20;8(1):1052. doi: 10.1038/s41467-017-00933-6.

2.

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S.

BMC Med Genet. 2017 Jan 13;18(1):4. doi: 10.1186/s12881-016-0363-6.

3.

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.

Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, Yigit G, Wollnik B.

Am J Med Genet A. 2017 Jan;173(1):264-267. doi: 10.1002/ajmg.a.37999. Epub 2016 Oct 18.

PMID:
27753196
4.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB.

JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol.2016.0363.

5.

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.

Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM, Baxter RM, McPherson E, Tang S.

BMC Med Genet. 2015 Nov 5;16:102. doi: 10.1186/s12881-015-0240-8.

6.

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, Laing N, Cook M, Dawkins H, Goldblatt J.

Am J Med Genet A. 2015 Jul;167(7):1659-67. doi: 10.1002/ajmg.a.37070. Epub 2015 Apr 6.

PMID:
25851998
7.

Genetics: mutations in mTOR pathway linked to megalencephaly syndromes.

Striano P, Zara F.

Nat Rev Neurol. 2012 Oct;8(10):542-4. doi: 10.1038/nrneurol.2012.178. Epub 2012 Aug 21. No abstract available.

PMID:
22907262

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