| 1 | DUP15QP, GABRB3, NDN, SNRPN, UBE3A
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| Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.
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| Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM.
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| J Med Genet 46(2):86-93. Epub 2008 Oct 7.
2009
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| 2 | GABRB3
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| Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
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| Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV.
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| Am J Hum Genet 82(6):1249-61. 2008
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| 3 | DUP15QP, GABRB3
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| Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder.
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| DeLorey TM, Sahbaie P, Hashemi E, Homanics GE, Clark JD.
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| Behav Brain Res ehav Brain Res. 2008
2008
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| 4 | GABRB3, PWS, AS, RTT, AUTS4
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| 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
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| Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.
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| Hum Mol Genet [Epub ahead of print] 2007
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| 5 | AS, AUTS4, GABRB3, MECP2, PWS, RTT, UBE3A
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| 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
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| Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.
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| Hum Mol Genet 16(6):691-703. Epub 2007 Mar 5.
2007
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| 6 | GABRB3
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| A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
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| Urak L, Feucht M, Fathi N, Hornik K, Fuchs K.
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| Hum Mol Genet 15(16):2533-41. Epub 2006 Jul 11. 2006
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| 7 | UBE3A, MECP2, GABRB3, RTT, AUTS4
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| Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.
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| Samaco RC, Hogart A, LaSalle JM.
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| Hum Mol Genet 14(4):483-92. Epub 2004 Dec 22. 2005
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| 8 | GABRB3, SCN2B, VAMP1, SYN2, CALM1, RAP2A, MAP2K4, YWHAZ, CDK5R1, RAB6A, SORT1, MAP1B, MAP2, HBB, CFHR1, ZNF238, FGF13
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| Gene regulation and DNA damage in the ageing human brain.
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| Lu T, Pan Y, Kao SY, Li C, Kohane I, Chan J, Yankner BA.
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| Nature 429(6994):883-91. Epub 2004 Jun 09. 2004
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| 9 | POU5F1, FOXD3, DNMT3B, FZD7, SDC4, GABRB3, GPC4, TERF1
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| Gene expression patterns in human embryonic stem cells and human pluripotent germ cell tumors.
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| Sperger JM, Chen X, Draper JS, Antosiewicz JE, Chon CH, Jones SB, Brooks JD, Andrews PW, Brown PO, Thomson JA.
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| Proc Natl Acad Sci U S A 100(23):13350-5. Epub 2003 Oct 31. 2003
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| 10 | GABRB3
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| Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism.
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| Salmon B, et al.
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| Am J Med Genet 88(5):551-556 1999
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| 11 | AUTS4, GABRB3
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| Genetic studies in autistic disorder and chromosome 15.
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| Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER, maddox LO, Vance JM, Abramson RK, Wright HH, Gilbert JR, Cuccaro ML, De Long GR, Pericak-Vance MA.
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| Neurogenetics 2 : 219-226. 1999
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| 12 | GABRB3, GABRA5
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| Structure and organization of GABRB3 and GABRA5.
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| Glatt K, et al.
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| Genomics 41 : 63-69. 1997
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| 13 | GABRA5, GABRB3, GABRG3, EJM2
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| Linkage analysis between idiopathic generalized epilepsies and the GABA(A) receptor alpha5, beta3 and gamma3 subunit gene cluster on chromosome 15.
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| Sander T, Kretz R, Williamson MP, Elmslie FV, Rees M, Hildmann T, Bianchi A, Bauer G, Sailer U, Scaramelli A, Schmitz B, Gardiner RM, Janz D, Beck-Mannagetta G.
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| Acta Neurol Scand 96(1):1-7. 1997
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| 14 | GABRA5, GABRB3
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| Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution.
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| LaSalle JM, et al.
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| Nat Genet 9 : 386-394. 1995
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| 15 | GABRB3, GABRA5
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| The human gamma-aminobutyric acid receptor subunit beta3 and alpha5 gene cluster in chromosome 15q11-q13 is rich in highly polymorphic (CA)n repeats.
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| Glatt K, et al.
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| Genomics 19 : 157-160. 1994
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| 16 | AS,GABRB3
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| Exclusion of the GABAa-receptor beta3 subunit gene as the Angelman's syndrome gene.
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| Reis A, et al.
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| Lancet 341 : 122-123. 1993
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| 17 | AS,GABRB3
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| Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAa receptor beta3 subunit gene.
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| Saitoh S, et al.
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| Lancet 339 : 366-367. 1992
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| 18 | GABRB3
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| Dinucleotide repeat polymorphism at the GABAa receptor beta3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.
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| Mutirangura A, et al.
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| Hum Mol Genet 1 : 67. 1992
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| 19 | GABRB3
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| Localization of the gene encoding the GABAa receptor beta-3 subunit to the Angelman/Prader-Willi region of human chromosome 15.
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| Wagstaff J, et al.
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| Am J Hum Genet 49 : 330-337. 1991
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| 20 | GABRB3
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| The GABAa receptor beta3 subunit gene : characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7.
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| Wagstaff J, et al.
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| Genomics 11 : 1071-1078 1991
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