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Results: 13

1.

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CV, Marques W Jr, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N.

J Med Genet. 2014 Sep;51(9):605-13. doi: 10.1136/jmedgenet-2014-102535. Epub 2014 Jul 25.

PMID:
25062845
[PubMed - in process]
2.

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME.

Am J Hum Genet. 2014 Jun 5;94(6):870-83. doi: 10.1016/j.ajhg.2014.05.004.

PMID:
24906019
[PubMed - indexed for MEDLINE]
3.

Structural variation-associated expression changes are paralleled by chromatin architecture modifications.

Gheldof N, Witwicki RM, Migliavacca E, Leleu M, Didelot G, Harewood L, Rougemont J, Reymond A.

PLoS One. 2013 Nov 12;8(11):e79973. doi: 10.1371/journal.pone.0079973. eCollection 2013.

PMID:
24265791
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Complex epigenetic regulation of engrailed-2 (EN-2) homeobox gene in the autism cerebellum.

James SJ, Shpyleva S, Melnyk S, Pavliv O, Pogribny IP.

Transl Psychiatry. 2013 Feb 19;3:e232. doi: 10.1038/tp.2013.8.

PMID:
23423141
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, Jian M, Liu G, Greer D, Bhandari A, Wu W, Corominas R, Peoples A, Koren A, Gore A, Kang S, Lin GN, Estabillo J, Gadomski T, Singh B, Zhang K, Akshoomoff N, Corsello C, McCarroll S, Iakoucheva LM, Li Y, Wang J, Sebat J.

Cell. 2012 Dec 21;151(7):1431-42. doi: 10.1016/j.cell.2012.11.019.

PMID:
23260136
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE.

Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.

PMID:
22495309
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Epigenetic signatures of autism: trimethylated H3K4 landscapes in prefrontal neurons.

Shulha HP, Cheung I, Whittle C, Wang J, Virgil D, Lin CL, Guo Y, Lessard A, Akbarian S, Weng Z.

Arch Gen Psychiatry. 2012 Mar;69(3):314-24. doi: 10.1001/archgenpsychiatry.2011.151. Epub 2011 Nov 7.

PMID:
22065254
[PubMed - indexed for MEDLINE]
8.

Evolving role of MeCP2 in Rett syndrome and autism.

LaSalle JM, Yasui DH.

Epigenomics. 2009 Oct;1(1):119-30. doi: 10.2217/epi.09.13. Review.

PMID:
20473347
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.

Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM.

Hum Mol Genet. 2009 Feb 1;18(3):525-34. doi: 10.1093/hmg/ddn380. Epub 2008 Nov 10.

PMID:
19000991
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.

Parker-Katiraee L, Carson AR, Yamada T, Arnaud P, Feil R, Abu-Amero SN, Moore GE, Kaneda M, Perry GH, Stone AC, Lee C, Meguro-Horike M, Sasaki H, Kobayashi K, Nakabayashi K, Scherer SW.

PLoS Genet. 2007 May 4;3(5):e65. Epub 2007 Mar 12.

PMID:
17480121
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains.

Itoh M, Ide S, Takashima S, Kudo S, Nomura Y, Segawa M, Kubota T, Mori H, Tanaka S, Horie H, Tanabe Y, Goto Y.

J Neuropathol Exp Neurol. 2007 Feb;66(2):117-23.

PMID:
17278996
[PubMed - indexed for MEDLINE]
12.

Rett syndrome: a Rosetta stone for understanding the molecular pathogenesis of autism.

LaSalle JM, Hogart A, Thatcher KN.

Int Rev Neurobiol. 2005;71:131-65. Review. No abstract available.

PMID:
16512349
[PubMed - indexed for MEDLINE]
13.

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC.

Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.

PMID:
12690205
[PubMed - indexed for MEDLINE]
Free PMC Article

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