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Items: 1 to 20 of 94


Plausibility of the zebrafish embryos/larvae as an alternative animal model for autism: A comparison study of transcriptome changes.

Lee S, Chun HS, Lee J, Park HJ, Kim KT, Kim CH, Yoon S, Kim WK.

PLoS One. 2018 Sep 4;13(9):e0203543. doi: 10.1371/journal.pone.0203543. eCollection 2018.


22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.

Ponson L, Gomot M, Blanc R, Barthelemy C, Roux S, Munnich A, Romana S, Aguillon-Hernandez N, Malan V, Bonnet-Brilhault F.

Transl Psychiatry. 2018 Aug 8;8(1):146. doi: 10.1038/s41398-018-0212-9. Erratum in: Transl Psychiatry. 2019 Feb 28;9(1):101.


SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature.

Kanani F, Study D, Balasubramanian M.

Clin Dysmorphol. 2018 Oct;27(4):113-115. doi: 10.1097/MCD.0000000000000232. Review.


Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL Jr, Betancur C, Buxbaum JD, Kolevzon A.

Mol Autism. 2018 Apr 27;9:31. doi: 10.1186/s13229-018-0205-9. eCollection 2018.


Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.

Kiyota K, Yoshiura KI, Houbara R, Miyahara H, Korematsu S, Ihara K.

Eur J Med Genet. 2018 Oct;61(10):631-633. doi: 10.1016/j.ejmg.2018.04.008. Epub 2018 Apr 17.


Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.

Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL Jr, Bi W.

Am J Med Genet A. 2018 Apr;176(4):973-979. doi: 10.1002/ajmg.a.38622. Epub 2018 Feb 9.


Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder.

Qiu S, Li Y, Li Y, Zhong W, Shi M, Zhao Q, Zhang K, Wang Y, Lu M, Zhu X, Jiang H, Yu Y, Cheng Y, Liu Y.

Gene. 2018 Apr 20;651:100-105. doi: 10.1016/j.gene.2018.01.078. Epub 2018 Feb 7.


Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.

Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A.

Eur J Hum Genet. 2018 Mar;26(3):293-302. doi: 10.1038/s41431-017-0042-x. Epub 2018 Jan 22.


Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism.

Koberstein JN, Poplawski SG, Wimmer ME, Porcari G, Kao C, Gomes B, Risso D, Hakonarson H, Zhang NR, Schultz RT, Abel T, Peixoto L.

Sci Signal. 2018 Jan 16;11(513). pii: eaan6500. doi: 10.1126/scisignal.aan6500.


Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium.

Egger JIM, Verhoeven WMA, Groenendijk-Reijenga R, Kant SG.

BMJ Case Rep. 2017 Sep 28;2017. pii: bcr-2017-220778. doi: 10.1136/bcr-2017-220778.


Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development.

Kathuria A, Nowosiad P, Jagasia R, Aigner S, Taylor RD, Andreae LC, Gatford NJF, Lucchesi W, Srivastava DP, Price J.

Mol Psychiatry. 2018 Mar;23(3):735-746. doi: 10.1038/mp.2017.185. Epub 2017 Sep 26.


A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.

Terrone G, Vitiello G, Genesio R, D'Amico A, Imperati F, Ugga L, Giugliano T, Piluso G, Nitsch L, Brunetti-Pierri N, Del Giudice E.

Eur J Paediatr Neurol. 2017 Nov;21(6):902-906. doi: 10.1016/j.ejpn.2017.07.006. Epub 2017 Jul 20.


Clinical characterization of novel chromosome 22q13 microdeletions.

Ha JF, Ahmad A, Lesperance MM.

Int J Pediatr Otorhinolaryngol. 2017 Apr;95:121-126. doi: 10.1016/j.ijporl.2016.12.008. Epub 2016 Dec 23.


Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy.

Coci EG, Auhuber A, Langenbach A, Mrasek K, Riedel J, Leenen A, Lücke T, Liehr T.

Cytogenet Genome Res. 2017;151(4):171-178. doi: 10.1159/000471501. Epub 2017 May 10.


Investigation of SHANK3 in schizophrenia.

de Sena Cortabitarte A, Degenhardt F, Strohmaier J, Lang M, Weiss B, Roeth R, Giegling I, Heilmann-Heimbach S, Hofmann A, Rujescu D, Fischer C, Rietschel M, Nöthen MM, Rappold GA, Berkel S.

Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):390-398. doi: 10.1002/ajmg.b.32528. Epub 2017 Mar 28.


Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.

Pfaender S, Sauer AK, Hagmeyer S, Mangus K, Linta L, Liebau S, Bockmann J, Huguet G, Bourgeron T, Boeckers TM, Grabrucker AM.

Sci Rep. 2017 Mar 27;7:45190. doi: 10.1038/srep45190.


Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.

Guo H, Peng Y, Hu Z, Li Y, Xun G, Ou J, Sun L, Xiong Z, Liu Y, Wang T, Chen J, Xia L, Bai T, Shen Y, Tian Q, Hu Y, Shen L, Zhao R, Zhang X, Zhang F, Zhao J, Zou X, Xia K.

Sci Rep. 2017 Mar 10;7:44155. doi: 10.1038/srep44155.


SHANK proteins: roles at the synapse and in autism spectrum disorder.

Monteiro P, Feng G.

Nat Rev Neurosci. 2017 Mar;18(3):147-157. doi: 10.1038/nrn.2016.183. Epub 2017 Feb 9. Review.


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