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Results: 11

1.

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA.

Am J Hum Genet. 2014 Mar 6;94(3):470-8. doi: 10.1016/j.ajhg.2014.02.004.

PMID:
24607389
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV, Miano MG.

Am J Hum Genet. 2013 Jan 10;92(1):114-25. doi: 10.1016/j.ajhg.2012.11.008. Epub 2012 Dec 13.

PMID:
23246292
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Application of next-generation sequencing in clinical oncology to advance personalized treatment of cancer.

Guan YF, Li GR, Wang RJ, Yi YT, Yang L, Jiang D, Zhang XP, Peng Y.

Chin J Cancer. 2012 Oct;31(10):463-70. doi: 10.5732/cjc.012.10216. Epub 2012 Sep 17. Review.

PMID:
22980418
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Arf6-GEF BRAG1 regulates JNK-mediated synaptic removal of GluA1-containing AMPA receptors: a new mechanism for nonsyndromic X-linked mental disorder.

Myers KR, Wang G, Sheng Y, Conger KK, Casanova JE, Zhu JJ.

J Neurosci. 2012 Aug 22;32(34):11716-26. doi: 10.1523/JNEUROSCI.1942-12.2012.

PMID:
22915114
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Seizures and X-linked intellectual disability.

Stevenson RE, Holden KR, Rogers RC, Schwartz CE.

Eur J Med Genet. 2012 May;55(5):307-12. doi: 10.1016/j.ejmg.2012.01.017. Epub 2012 Feb 8. Review.

PMID:
22377486
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

Lin X, Tang W, Ahmad S, Lu J, Colby CC, Zhu J, Yu Q.

Hear Res. 2012 Jun;288(1-2):67-76. doi: 10.1016/j.heares.2012.01.004. Epub 2012 Jan 14. Review.

PMID:
22269275
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.

Voineagu I, Huang L, Winden K, Lazaro M, Haan E, Nelson J, McGaughran J, Nguyen LS, Friend K, Hackett A, Field M, Gecz J, Geschwind D.

Mol Psychiatry. 2012 Jan;17(1):4-7. doi: 10.1038/mp.2011.95. Epub 2011 Aug 9. No abstract available.

PMID:
21826058
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Exome sequencing identifies ZNF644 mutations in high myopia.

Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z.

PLoS Genet. 2011 Jun;7(6):e1002084. doi: 10.1371/journal.pgen.1002084. Epub 2011 Jun 9.

PMID:
21695231
[PubMed - indexed for MEDLINE]
Free PMC Article
9.
10.

ARF family G proteins and their regulators: roles in membrane transport, development and disease.

Donaldson JG, Jackson CL.

Nat Rev Mol Cell Biol. 2011 Jun;12(6):362-75. doi: 10.1038/nrm3117. Epub 2011 May 18. Review. Erratum in: Nat Rev Mol Cell Biol. 2011;12(8):533.

PMID:
21587297
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Another locus, a new method.

Singleton AB, Gibbs JR.

Brain. 2010 Dec;133(Pt 12):3492-3. doi: 10.1093/brain/awq331. No abstract available.

PMID:
21126992
[PubMed - indexed for MEDLINE]
Free PMC Article

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