| 1 | DUP15QP
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| Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness.
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| Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, Kristinsson KT, le Roux L, Gustafsson O, Craddock N, Möller HJ, McQuillin A, Muglia P, Cichon S, Rietschel M, Ophoff RA, Djurovic S, Andreassen OA, Pietiläinen OP, Peltonen L, Dempster E, Collier DA, St Clair D, Rasmussen HB, Glenthøj BY, Kiemeney LA, Franke B, Tosato S, Bonetto C, Saemundsen E, Hreidarsson SJ; GROUP Investigators, Nöthen MM, Gurling H, O'Donovan MC, Owen MJ, Sigurdsson E, Petursson H, Stefansson H, Rujescu D, Stefansson K, Werge T.
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| Am J Psychiatry 168(4):408-17. Epub 2011 Feb 15.
2011
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| 2 | DUP15Q12, DUP15QP
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| Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification.
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| Bremer A, Giacobini M, Nordenskjöld M, Brøndum-Nielsen K, Mansouri M, Dahl N, Anderlid B, Schoumans J.
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| Am J Med Genet B Neuropsychiatr Genet 153B(1):280-5. 2010
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| 3 | DUP15QP
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| A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome.
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| Pacanaro AN, Christofolini DM, Kulikowski LD, Belangero SI, da Silva Bellucco FT, Varela MC, Koiffmann CP, Yoshimoto M, Squire JA, Schiavon AV, Heck B, Melaragno MI.
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| Am J Med Genet A 152A(3):753-8.PMID: 20186782 2010
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| 4 | DUP15Q12, DUP15QP
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| Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.
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| Piard J, Philippe C, Marvier M, Beneteau C, Roth V, Valduga M, Béri M, Bonnet C, Grégoire MJ, Jonveaux P, Leheup B.
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| Am J Med Genet A 152A(8):1933-41.PMID: 20635369 2010
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| 5 | DUP15QP
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| 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.
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| Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E.
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| Am J Med Genet A 152A(8):1925-32.PMID: 20575009 2010
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| 6 | 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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| 7 | 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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| 8 | DUP15QP
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| Atypical breakpoints generating mosaic interstitial duplication and triplication of chromosome 15q11-q13.
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| Parokonny AS, Wang NJ, Driscoll J, Cuccaro M, Wolpert C, Malone BM, Schanen NC.
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| Am J Med Genet A 143(20):2473-7. No abstract available. 2007
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| 9 | DUP15QP
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| 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.
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| Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.
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| Clin Genet 69(2):124-34. 2006
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| 10 | INVDUP15, DUP15QP
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| Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.
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| Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS.
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| Am J Med Genet A 140(5):434-41. 2006
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| 11 | DUP15QP, INVDUP15, AS, PWS
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| Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.
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| Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL.
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| Am J Med Genet A 139(2):106-13. 2005
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| 12 | DUP15QP
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| A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study.
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| Veltman MW, Thompson RJ, Craig EE, Dennis NR, Roberts SE, Moore V, Brown JA, Bolton PF.
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| J Autism Dev Disord 35(1):117-27. 2005
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| 13 | DUP15QP, PWS, AS, INVDUP15
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| High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.
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| Wang NJ, Liu D, Parokonny AS, Schanen NC.
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| Am J Hum Genet 75(2):267-81. Epub 2004 Jun 11. 2004
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| 14 | PWS, AS, DUP15QP, INVDUP15
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| BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.
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| Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, Eichler EE.
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| J Med Genet 41(3):175-82. 2004
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| 15 | DUP15QP
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| Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.
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| Vialard F, Mignon-Ravix C, Parain D, Depetris D, Portnoi MF, Moirot H, Mattei MG.
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| Am J Med Genet A 118(3):229-34. 2003
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| 16 | DUP15QP
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| Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment.
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| Thomas JA, Johnson J, Peterson Kraai TL, Wilson R, Tartaglia N, LeRoux J, Beischel L, McGavran L, Hagerman RJ.
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| Am J Med Genet A 119(2):111-20. 2003
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| 17 | DUP15QP
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| Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.
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| Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RS, Christian SL, Ledbetter DH.
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| J Med Genet 39(3):170-7. 2002
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| 18 | DUP15QP
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| Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.
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| Roberts SE, Dennis NR, Browne CE, Willatt L, Woods G, Cross I, Jacobs PA, Thomas S.
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| Hum Genet 110(3):227-34. Epub 2002 Feb 2. 2002
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| 19 | DUP15QP, NSMCE3, UBE3A
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| Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications.
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| Herzing LB, Cook EH Jr, Ledbetter DH.
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| Hum Mol Genet 11(15):1707-18. 2002
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| 20 | DUP15QP, INVDUP15
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| Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
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| Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH.
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| J Med Genet 38(1):26-34. 2001
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| 21 | DUP15QP
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| The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.
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| Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P.
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| Am J Med Genet 105(8):675-85. Review. 2001
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| 22 | DUP15QP
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| A family with a grand-maternally derived interstitial duplication of proximal 15q.
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| Boyar FZ, Whitney MM, Lossie AC, Gray BA, Keller KL, Stalker HJ, Zori RT, Geffken G, Mutch J, Edge PJ, Voeller KS, Williams CA, Driscoll DJ.
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| Clin Genet 60(6):421-30. 2001
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| 23 | AS, DUP15QP, INVDUP15
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| Rearrangements of chromosome 15 in epilepsy.
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| Torrisi L, Sangiorgi E, Russo L, Gurrieri F.
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| Am J Med Genet 106(2):125-8. 2001
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| 24 | DUP15QP
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| Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.
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| Mohandas TK, Park JP, Spellman RA, Filiano JJ, Mamourian AC, Hawk AB, Belloni DR, Noll WW, Moeschler JB.
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| Am J Med Genet 82(4):294-300. 1999
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| 25 | DUP15QP
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| Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.
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| Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH.
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| Am J Med Genet 79(2):82-9. 1998
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| 26 | DUP15QP, INVDUP15, NF1P1
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| Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q.
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| Barber JC, Cross IE, Douglas F, Nicholson JC, Moore KJ, Browne CE.
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| Hum Genet 103(5):600-7. 1998
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| 27 | DUP15QP, GABRA5L, IGHDOR15@, NF1L11
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| A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications.
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| Ritchie RJ, Mattei MG, Lalande M.
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| Hum Mol Genet 7(8):1253-60. 1998
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| 28 | DUP15QP
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| Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
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| Browne CE, Dennis NR, Maher E, Long FL, Nicholson JC, Sillibourne J, Barber JC.
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| Am J Hum Genet 61(6):1342-52. 1997
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| 29 | AUTS4, DUP15QP
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| Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.
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| Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E.
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| Am J Hum Genet 60(4):928-34. 1997
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| 30 | DUP15QP
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| Intrachromosomal triplication of 15q11-q13.
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| Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP.
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| J Med Genet 31(10):798-803. 1994
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| 31 | DUP15QP
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| Absence of predictable phenotypic expression in proximal 15q duplications.
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| Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM.
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| Clin Genet 40(3):194-201. 1991
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| 32 | DUP15QP
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| Proximal duplications of chromosome 15: clinical dilemmas.
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| Hood OJ, Rouse BM, Lockhart LH, Bodensteiner JB.
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| Clin Genet 29(3):234-40. 1986
|