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Items: 1 to 20 of 43

1.

Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient.

Pei Y, Li W, Du L, Wei F.

Fetal Pediatr Pathol. 2018 Dec 21:1-4. doi: 10.1080/15513815.2018.1497113. [Epub ahead of print]

PMID:
30572772
2.

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.

Cowley MJ, Liu YC, Oliver KL, Carvill G, Myers CT, Gayevskiy V, Delatycki M, Vlaskamp DRM, Zhu Y, Mefford H, Buckley MF, Bahlo M, Scheffer IE, Dinger ME, Roscioli T.

Hum Mutat. 2018 Dec 17. doi: 10.1002/humu.23699. [Epub ahead of print]

PMID:
30556619
3.

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
4.

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.

5.

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
6.

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.

7.

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.

8.

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.

9.

Prevalence and architecture of de novo mutations in developmental disorders.

Deciphering Developmental Disorders Study.

Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.

10.

DE NOVO MUTATIONS IN AUTISM IMPLICATE THE SYNAPTIC ELIMINATION NETWORK.

Ram Venkataraman G, O'Connell C, Egawa F, Kashef-Haghighi D, Wall DP.

Pac Symp Biocomput. 2017;22:521-532. doi: 10.1142/9789813207813_0048.

11.

Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.

Berryer MH, Chattopadhyaya B, Xing P, Riebe I, Bosoi C, Sanon N, Antoine-Bertrand J, Lévesque M, Avoli M, Hamdan FF, Carmant L, Lamarche-Vane N, Lacaille JC, Michaud JL, Di Cristo G.

Nat Commun. 2016 Nov 9;7:13340. doi: 10.1038/ncomms13340.

12.

Prioritizing the development of mouse models for childhood brain disorders.

Ogden KK, Ozkan ED, Rumbaugh G.

Neuropharmacology. 2016 Jan;100:2-16. doi: 10.1016/j.neuropharm.2015.07.029. Epub 2015 Jul 29. Review.

13.

SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.

von Stülpnagel C, Funke C, Haberl C, Hörtnagel K, Jüngling J, Weber YG, Staudt M, Kluger G.

Neuropediatrics. 2015 Aug;46(4):287-91. doi: 10.1055/s-0035-1554098. Epub 2015 Jun 25.

PMID:
26110312
14.

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, Mohammed S, Vasudevan PC, Park SM, Benoit V, Lederer D, Maystadt I, Study D, FitzPatrick DR.

Am J Med Genet A. 2015 Oct;167A(10):2231-7. doi: 10.1002/ajmg.a.37189. Epub 2015 Jun 15.

15.

Dietary glycemic index modulates the behavioral and biochemical abnormalities associated with autism spectrum disorder.

Currais A, Farrokhi C, Dargusch R, Goujon-Svrzic M, Maher P.

Mol Psychiatry. 2016 Mar;21(3):426-36. doi: 10.1038/mp.2015.64. Epub 2015 Jun 9.

PMID:
26055422
16.

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

Kozol RA, Cukier HN, Zou B, Mayo V, De Rubeis S, Cai G, Griswold AJ, Whitehead PL, Haines JL, Gilbert JR, Cuccaro ML, Martin ER, Baker JD, Buxbaum JD, Pericak-Vance MA, Dallman JE.

Hum Mol Genet. 2015 Jul 15;24(14):4006-23. doi: 10.1093/hmg/ddv138. Epub 2015 Apr 16.

17.

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

Tan CA, Topper S, Del Gaudio D, Nelakuditi V, Shchelochkov O, Nowaczyk MJM, Zeesman S, Brady L, Russell L, Meeks N, Sastry S, Arndt K, Kobiernicki F, Shaw R, Das S.

Clin Genet. 2016 Apr;89(4):478-483. doi: 10.1111/cge.12575. Epub 2015 Mar 15.

PMID:
25693842
18.

Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly.

Aceti M, Creson TK, Vaissiere T, Rojas C, Huang WC, Wang YX, Petralia RS, Page DT, Miller CA, Rumbaugh G.

Biol Psychiatry. 2015 May 1;77(9):805-15. doi: 10.1016/j.biopsych.2014.08.001. Epub 2014 Aug 13.

19.

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE.

Nat Commun. 2014 Nov 24;5:5595. doi: 10.1038/ncomms6595.

20.

Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders.

Santini E, Klann E.

Sci Signal. 2014 Oct 28;7(349):re10. doi: 10.1126/scisignal.2005832. Review.

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