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Items: 1 to 20 of 109

1.

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.

Al-Mubarak B, Abouelhoda M, Omar A, AlDhalaan H, Aldosari M, Nester M, Alshamrani HA, El-Kalioby M, Goljan E, Albar R, Subhani S, Tahir A, Asfahani S, Eskandrani A, Almusaiab A, Magrashi A, Shinwari J, Monies D, Al Tassan N.

Sci Rep. 2017 Jul 18;7(1):5679. doi: 10.1038/s41598-017-06033-1.

2.

Strength of functional signature correlates with effect size in autism.

Ballouz S, Gillis J.

Genome Med. 2017 Jul 7;9(1):64. doi: 10.1186/s13073-017-0455-8.

3.

Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.

Ghasemi Firouzabadi S, Vameghi R, Kariminejad R, Darvish H, Banihashemi S, Firouzkouhi Moghaddam M, Jamali P, Farbod Mofidi Tehrani H, Dehghani H, Raeisoon MR, Narooie-Nejad M, Jamshidi J, Tafakhori A, Sadabadi S, Behjati F.

Int J Mol Cell Med. 2016 Fall;5(4):236-245. Epub 2016 Dec 5.

4.

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.

Hensel C, Vanzo R, Martin M, Dixon S, Lambert C, Levy B, Nelson L, Peiffer A, Ho KS, Rushton P, Serrano M, South S, Ward K, Wassman E.

PLoS Curr. 2017 Feb 27;9. pii: ecurrents.eogt.7d92ce775800ef3fbc72e3840fb1bc22. doi: 10.1371/currents.eogt.7d92ce775800ef3fbc72e3840fb1bc22.

5.

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.

Ho KS, Twede H, Vanzo R, Harward E, Hensel CH, Martin MM, Page S, Peiffer A, Mowery-Rushton P, Serrano M, Wassman ER.

Biomed Res Int. 2016;2016:3284534. Epub 2016 Nov 16.

6.

Trans-acting epigenetic effects of chromosomal aneuploidies: lessons from Down syndrome and mouse models.

Do C, Xing Z, Yu YE, Tycko B.

Epigenomics. 2017 Feb;9(2):189-207. doi: 10.2217/epi-2016-0138. Epub 2016 Dec 2. Review.

7.

A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.

Lin YC, Frei JA, Kilander MB, Shen W, Blatt GJ.

Front Cell Neurosci. 2016 Nov 17;10:263. eCollection 2016. Review.

8.

Copy number variations in Saudi family with intellectual disability and epilepsy.

Naseer MI, Chaudhary AG, Rasool M, Kalamegam G, Ashgan FT, Assidi M, Ahmed F, Ansari SA, Zaidi SK, Jan MM, Al-Qahtani MH.

BMC Genomics. 2016 Oct 17;17(Suppl 9):757.

9.

Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation.

Need AC, Goldstein DB.

Dialogues Clin Neurosci. 2016 Sep;18(3):237-252. Review.

10.

Subcellular organization of UBE3A in neurons.

Burette AC, Judson MC, Burette S, Phend KD, Philpot BD, Weinberg RJ.

J Comp Neurol. 2017 Feb 1;525(2):233-251. doi: 10.1002/cne.24063. Epub 2016 Jul 11.

PMID:
27339004
11.

Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics.

Kazdoba TM, Leach PT, Yang M, Silverman JL, Solomon M, Crawley JN.

Curr Top Behav Neurosci. 2016;28:1-52. doi: 10.1007/7854_2015_5003. Review.

12.

The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder.

Ziats MN, Rennert OM.

Front Genet. 2016 Apr 26;7:65. doi: 10.3389/fgene.2016.00065. eCollection 2016. Review.

13.

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

Isles AR, Ingason A, Lowther C, Walters J, Gawlick M, Stöber G, Rees E, Martin J, Little RB, Potter H, Georgieva L, Pizzo L, Ozaki N, Aleksic B, Kushima I, Ikeda M, Iwata N, Levinson DF, Gejman PV, Shi J, Sanders AR, Duan J, Willis J, Sisodiya S, Costain G, Werge TM, Degenhardt F, Giegling I, Rujescu D, Hreidarsson SJ, Saemundsen E, Ahn JW, Ogilvie C, Girirajan SD, Stefansson H, Stefansson K, O'Donovan MC, Owen MJ, Bassett A, Kirov G.

PLoS Genet. 2016 May 6;12(5):e1005993. doi: 10.1371/journal.pgen.1005993. eCollection 2016 May.

14.

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.

Wenger TL, Kao C, McDonald-McGinn DM, Zackai EH, Bailey A, Schultz RT, Morrow BE, Emanuel BS, Hakonarson H.

Sci Rep. 2016 Jan 19;6:19372. doi: 10.1038/srep19372.

15.

Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.

Naseer MI, Faheem M, Chaudhary AG, Kumosani TA, Al-Quaiti MM, Jan MM, Saleh Jamal H, Al-Qahtani MH.

BMC Genomics. 2015;16 Suppl 1:S10. doi: 10.1186/1471-2164-16-S1-S10. Epub 2015 Jan 15.

16.

16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.

Yang M, Mahrt EJ, Lewis F, Foley G, Portmann T, Dolmetsch RE, Portfors CV, Crawley JN.

Autism Res. 2015 Oct;8(5):507-21. doi: 10.1002/aur.1465. Epub 2015 Feb 7.

17.

Genomic sister-disorders of neurodevelopment: an evolutionary approach.

Crespi B, Summers K, Dorus S.

Evol Appl. 2009 Feb;2(1):81-100. doi: 10.1111/j.1752-4571.2008.00056.x. Epub 2009 Jan 7.

18.

Mouse Models of 22q11.2-Associated Autism Spectrum Disorder.

Hiroi N, Hiramoto T, Harper KM, Suzuki G, Boku S.

Autism Open Access. 2012;Suppl 1:001.

19.

Axonal localization of Ca2+-dependent activator protein for secretion 2 is critical for subcellular locality of brain-derived neurotrophic factor and neurotrophin-3 release affecting proper development of postnatal mouse cerebellum.

Sadakata T, Kakegawa W, Shinoda Y, Hosono M, Katoh-Semba R, Sekine Y, Sato Y, Saruta C, Ishizaki Y, Yuzaki M, Kojima M, Furuichi T.

PLoS One. 2014 Jun 12;9(6):e99524. doi: 10.1371/journal.pone.0099524. eCollection 2014.

20.

The genetics of microdeletion and microduplication syndromes: an update.

Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC.

Annu Rev Genomics Hum Genet. 2014;15:215-244. doi: 10.1146/annurev-genom-091212-153408. Epub 2014 Apr 16. Review.

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