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Items: 1 to 20 of 98

1.

Maternal UBE3A in Angelman syndrome: "the rest is silence"?

Dan B.

Eur J Paediatr Neurol. 2012 Nov;16(6):760-1. doi: 10.1016/j.ejpn.2012.03.010. No abstract available.

PMID:
22552181
2.

Spatial and temporal silencing of the human maternal UBE3A gene.

Daily J, Smith AG, Weeber EJ.

Eur J Paediatr Neurol. 2012 Nov;16(6):587-91. doi: 10.1016/j.ejpn.2012.03.006.

3.

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

Meng L, Ward AJ, Chun S, Bennett CF, Beaudet AL, Rigo F.

Nature. 2015 Feb 19;518(7539):409-12. doi: 10.1038/nature13975.

4.

Mutation Update for UBE3A variants in Angelman syndrome.

Sadikovic B, Fernandes P, Zhang VW, Ward PA, Miloslavskaya I, Rhead W, Rosenbaum R, Gin R, Roa B, Fang P.

Hum Mutat. 2014 Dec;35(12):1407-17. doi: 10.1002/humu.22687.

PMID:
25212744
5.

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.

Low D, Chen KS.

Eur J Hum Genet. 2010 Nov;18(11):1228-35. doi: 10.1038/ejhg.2010.95.

6.

Gene symbol: UBE3A. Disease: Angelman syndrome.

Mueller OT, Coovadia A.

Hum Genet. 2008 Jun;123(5):538. No abstract available.

PMID:
20960605
7.

Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.

Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant M, Noebels J, Beaudet AL.

PLoS One. 2010 Aug 20;5(8):e12278. doi: 10.1371/journal.pone.0012278.

8.

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

Silva-Santos S, van Woerden GM, Bruinsma CF, Mientjes E, Jolfaei MA, Distel B, Kushner SA, Elgersma Y.

J Clin Invest. 2015 May;125(5):2069-76. doi: 10.1172/JCI80554.

9.

[Angelman syndrome--diagnosis and therapy of genomic imprinting disorders].

Saito S.

No To Hattatsu. 2009 May;41(3):208-13. Review. Japanese. No abstract available.

PMID:
19517792
10.

Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans.

Landers M, Calciano MA, Colosi D, Glatt-Deeley H, Wagstaff J, Lalande M.

Nucleic Acids Res. 2005 Jul 18;33(13):3976-84.

11.

Gene symbol: UBE3A. Disease: Angelman syndrome.

Mueller OT, Coovadia A.

Hum Genet. 2008 Oct;124(3):304. No abstract available.

PMID:
18846633
12.

Angelman syndrome: how many genes to remain silent?

Rougeulle C, Lalande M.

Neurogenetics. 1998 Aug;1(4):229-37. Review.

PMID:
10732796
13.

Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.

Tzagkaraki E, Christalena S, Helen F, Argyris D, Ariadni M, Emmanuel K.

Hum Genet. 2009 Aug;126(2):331. No abstract available.

PMID:
19693993
14.

Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP.

Williams C.

J Child Neurol. 2009 Jul;24(7):904-8. doi: 10.1177/0883073809332767.

PMID:
19617463
15.

Molecular epigenetics of Angelman syndrome.

Lalande M, Calciano MA.

Cell Mol Life Sci. 2007 Apr;64(7-8):947-60. Review.

PMID:
17347796
16.

UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis.

Rapakko K, Kokkonen H, Leisti J.

Am J Med Genet A. 2004 Apr 30;126A(3):248-52.

PMID:
15054837
17.

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

Meng L, Person RE, Beaudet AL.

Hum Mol Genet. 2012 Jul 1;21(13):3001-12. doi: 10.1093/hmg/dds130.

18.

Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.

Boyes L, Wallace AJ, Krajewska-Walasek M, Chrzanowska KH, Clayton-Smith J, Ramsden S.

Eur J Med Genet. 2006 Nov-Dec;49(6):472-80.

PMID:
16740422
19.

[From pathogenesis to treatment of genetic intellectual disabilities: a lesson from Angelman syndrome research].

Saitoh S.

Nihon Shinkei Seishin Yakurigaku Zasshi. 2013 Jun;33(3):127-30. Review. Japanese.

PMID:
25069246
20.

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.

Piard J, Depienne C, Keren B, F├ędirko E, Trouillard O, Charles P, Heron D.

Am J Med Genet A. 2011 Dec;155A(12):3170-3. doi: 10.1002/ajmg.a.34334. No abstract available.

PMID:
22065487

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