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Items: 1 to 20 of 114

1.

Sleeping beauty transposon-mediated poly(A)-trapping and insertion mutagenesis in mouse embryonic stem cells.

Zhao Y, Song G, Ren J, Li Q, Zhong S, Cui Z.

Environ Mol Mutagen. 2018 Oct;59(8):687-697. doi: 10.1002/em.22234. Epub 2018 Oct 2.

PMID:
30280432
2.

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant.

Sabatini PJB, Ejaz R, Stavropoulos DJ, Mendoza-Londono R, Joseph-George AM.

Mol Cytogenet. 2018 Aug 28;11:50. doi: 10.1186/s13039-018-0394-0. eCollection 2018.

3.

Chronic treatment with a MEK inhibitor reverses enhanced excitatory field potentials in Syngap1+/- mice.

Kopanitsa MV, Gou G, Afinowi NO, Bayés À, Grant SGN, Komiyama NH.

Pharmacol Rep. 2018 Aug;70(4):777-783. doi: 10.1016/j.pharep.2018.02.021. Epub 2018 Jun 23.

PMID:
29940508
4.

Impact of diet-induced obesity on the mouse brain phosphoproteome.

Siino V, Amato A, Di Salvo F, Caldara GF, Filogamo M, James P, Vasto S.

J Nutr Biochem. 2018 Aug;58:102-109. doi: 10.1016/j.jnutbio.2018.04.015. Epub 2018 May 1.

PMID:
29886190
5.

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, Gupta S, Webster R, Procopis PG, Menezes MP, Antony J, Ardern-Holmes S, Dale RC, Christodoulou J, Gill D, Bennetts B.

Seizure. 2018 Jul;59:132-140. doi: 10.1016/j.seizure.2018.05.005. Epub 2018 May 28.

PMID:
29852413
6.

Importance of Functional Loss of FUS in FTLD/ALS.

Ishigaki S, Sobue G.

Front Mol Biosci. 2018 May 3;5:44. doi: 10.3389/fmolb.2018.00044. eCollection 2018. Review.

7.

Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

Oates S, Tang S, Rosch R, Lear R, Hughes EF, Williams RE, Larsen LHG, Hao Q, Dahl HA, Møller RS, Pal DK.

NPJ Genom Med. 2018 May 10;3:13. doi: 10.1038/s41525-018-0052-9. eCollection 2018.

8.

Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.

Kilinc M, Creson T, Rojas C, Aceti M, Ellegood J, Vaissiere T, Lerch JP, Rumbaugh G.

Mol Cell Neurosci. 2018 Sep;91:140-150. doi: 10.1016/j.mcn.2018.03.008. Epub 2018 Mar 24. Review.

PMID:
29580901
9.

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.

Weldon M, Kilinc M, Lloyd Holder J Jr, Rumbaugh G.

J Neurodev Disord. 2018 Feb 5;10(1):6. doi: 10.1186/s11689-018-9225-1. Review.

10.

Ulk4 regulates GABAergic signaling and anxiety-related behavior.

Liu M, Fitzgibbon M, Wang Y, Reilly J, Qian X, O'Brien T, Clapcote S, Shen S, Roche M.

Transl Psychiatry. 2018 Feb 2;8(1):43. doi: 10.1038/s41398-017-0091-5.

11.

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.

Rim JH, Kim SH, Hwang IS, Kwon SS, Kim J, Kim HW, Cho MJ, Ko A, Youn SE, Kim J, Lee YM, Chung HJ, Lee JS, Kim HD, Choi JR, Lee ST, Kang HC.

BMC Med Genomics. 2018 Feb 1;11(1):6. doi: 10.1186/s12920-018-0320-7.

12.

Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

Kimura Y, Akahira-Azuma M, Harada N, Enomoto Y, Tsurusaki Y, Kurosawa K.

Congenit Anom (Kyoto). 2018 Jan 30. doi: 10.1111/cga.12273. [Epub ahead of print]

PMID:
29381230
13.

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

Ortega-Moreno L, Giráldez BG, Soto-Insuga V, Losada-Del Pozo R, Rodrigo-Moreno M, Alarcón-Morcillo C, Sánchez-Martín G, Díaz-Gómez E, Guerrero-López R, Serratosa JM; Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI).

PLoS One. 2017 Nov 30;12(11):e0188978. doi: 10.1371/journal.pone.0188978. eCollection 2017.

14.

3'UTR Length-Dependent Control of SynGAP Isoform α2 mRNA by FUS and ELAV-like Proteins Promotes Dendritic Spine Maturation and Cognitive Function.

Yokoi S, Udagawa T, Fujioka Y, Honda D, Okado H, Watanabe H, Katsuno M, Ishigaki S, Sobue G.

Cell Rep. 2017 Sep 26;20(13):3071-3084. doi: 10.1016/j.celrep.2017.08.100.

15.

Tau exacerbates excitotoxic brain damage in an animal model of stroke.

Bi M, Gladbach A, van Eersel J, Ittner A, Przybyla M, van Hummel A, Chua SW, van der Hoven J, Lee WS, Müller J, Parmar J, Jonquieres GV, Stefen H, Guccione E, Fath T, Housley GD, Klugmann M, Ke YD, Ittner LM.

Nat Commun. 2017 Sep 7;8(1):473. doi: 10.1038/s41467-017-00618-0.

16.

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, Rivière JB, Fombonne E, O'Roak BJ.

Am J Hum Genet. 2017 Sep 7;101(3):369-390. doi: 10.1016/j.ajhg.2017.07.016. Epub 2017 Aug 31.

17.

Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1.

Okazaki T, Saito Y, Hiraiwa R, Saitoh S, Kai M, Adachi K, Nishimura Y, Nanba E, Maegaki Y.

Epileptic Disord. 2017 Sep 1;19(3):339-344. doi: 10.1684/epd.2017.0922.

18.

Synaptic GAP and GEF Complexes Cluster Proteins Essential for GTP Signaling.

Wilkinson B, Li J, Coba MP.

Sci Rep. 2017 Jul 13;7(1):5272. doi: 10.1038/s41598-017-05588-3.

19.

Autism spectrum disorder: neuropathology and animal models.

Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD, Hof PR.

Acta Neuropathol. 2017 Oct;134(4):537-566. doi: 10.1007/s00401-017-1736-4. Epub 2017 Jun 5. Review.

20.

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

Prchalova D, Havlovicova M, Sterbova K, Stranecky V, Hancarova M, Sedlacek Z.

BMC Med Genet. 2017 Jun 2;18(1):62. doi: 10.1186/s12881-017-0425-4.

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