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Items: 1 to 20 of 90

1.

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
2.
3.

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.

4.

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
5.

Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1.

Germain ND, Chen PF, Plocik AM, Glatt-Deeley H, Brown J, Fink JJ, Bolduc KA, Robinson TM, Levine ES, Reiter LT, Graveley BR, Lalande M, Chamberlain SJ.

Mol Autism. 2014 Aug 20;5:44. doi: 10.1186/2040-2392-5-44. eCollection 2014.

6.

Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.

LaSalle JM, Reiter LT, Chamberlain SJ.

Epigenomics. 2015 Oct;7(7):1213-28. doi: 10.2217/epi.15.70. Epub 2015 Nov 20. Review.

7.

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.

Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E.

Am J Med Genet A. 2010 Aug;152A(8):1925-32. doi: 10.1002/ajmg.a.33447.

PMID:
20575009
8.

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

Noor A, Dupuis L, Mittal K, Lionel AC, Marshall CR, Scherer SW, Stockley T, Vincent JB, Mendoza-Londono R, Stavropoulos DJ.

Hum Mutat. 2015 Jul;36(7):689-93. doi: 10.1002/humu.22800.

PMID:
25884337
9.

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.

10.

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
11.

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.

12.
13.

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.

Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cook EH Jr.

Biol Psychiatry. 2008 Jun 15;63(12):1111-7. doi: 10.1016/j.biopsych.2008.01.009. Epub 2008 Mar 28.

14.

Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.

Meguro-Horike M, Yasui DH, Powell W, Schroeder DI, Oshimura M, Lasalle JM, Horike S.

Hum Mol Genet. 2011 Oct 1;20(19):3798-810. doi: 10.1093/hmg/ddr298. Epub 2011 Jul 1.

15.

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.

Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL.

BMC Genomics. 2008 Jan 28;9:50. doi: 10.1186/1471-2164-9-50.

16.

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
17.

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
18.

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
19.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
20.

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.

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