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Items: 1 to 20 of 111

1.

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A.

Jiang YH, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL.

Am J Med Genet A. 2004 Nov 15;131(1):1-10.

PMID:
15389703
2.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
3.
4.

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.

Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT.

Autism Res. 2013 Aug;6(4):268-79. doi: 10.1002/aur.1284. Epub 2013 Mar 14.

5.

Mutation screening of the UBE3A/E6-AP gene in autistic disorder.

Veenstra-VanderWeele J, Gonen D, Leventhal BL, Cook EH Jr.

Mol Psychiatry. 1999 Jan;4(1):64-7.

PMID:
10089011
6.

Autism and maternally derived aberrations of chromosome 15q.

Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE.

Am J Med Genet. 1998 Apr 1;76(4):327-36.

PMID:
9545097
7.
8.

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.

Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, Folstein SE, Haines JL, Sutcliffe JS.

Genomics. 2001 Sep;77(1-2):105-13.

PMID:
11543639
9.

The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.

Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL.

Genome Res. 1997 Apr;7(4):368-77.

10.

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.

Guffanti G, Strik Lievers L, Bonati MT, Marchi M, Geronazzo L, Nardocci N, Estienne M, Larizza L, Macciardi F, Russo S.

Psychiatry Res. 2011 Jan 30;185(1-2):33-8. doi: 10.1016/j.psychres.2010.04.057. Epub 2010 Jul 6.

PMID:
20609483
11.

An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.

Yi JJ, Berrios J, Newbern JM, Snider WD, Philpot BD, Hahn KM, Zylka MJ.

Cell. 2015 Aug 13;162(4):795-807. doi: 10.1016/j.cell.2015.06.045. Epub 2015 Aug 6.

12.

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL.

Nat Genet. 1997 Jan;15(1):74-7.

PMID:
8988172
13.

Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes.

Baron CA, Tepper CG, Liu SY, Davis RR, Wang NJ, Schanen NC, Gregg JP.

Hum Mol Genet. 2006 Mar 15;15(6):853-69. Epub 2006 Jan 30.

PMID:
16446308
14.

UBE3A/E6-AP mutations cause Angelman syndrome.

Kishino T, Lalande M, Wagstaff J.

Nat Genet. 1997 Jan;15(1):70-3. Erratum in: Nat Genet 1997 Apr;15(4):411.

PMID:
8988171
15.

Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.

Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM.

J Med Genet. 2009 Feb;46(2):86-93. doi: 10.1136/jmg.2008.061580. Epub 2008 Oct 7.

16.

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E.

Am J Hum Genet. 1997 Apr;60(4):928-34.

17.

The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL.

Hum Mol Genet. 2008 Jan 1;17(1):111-8. Epub 2007 Oct 16.

PMID:
17940072
18.

Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice.

Smith SE, Zhou YD, Zhang G, Jin Z, Stoppel DC, Anderson MP.

Sci Transl Med. 2011 Oct 5;3(103):103ra97. doi: 10.1126/scitranslmed.3002627.

19.

The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.

Herzing LB, Kim SJ, Cook EH Jr, Ledbetter DH.

Am J Hum Genet. 2001 Jun;68(6):1501-5. Epub 2001 May 11.

20.

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.

Clin Genet. 2006 Feb;69(2):124-34.

PMID:
16433693

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