| 1 | DUP17P13, YWHAE
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| Regulation of neuronal morphogenesis by 14-3-3epsilon (Ywhae) via the microtubule binding protein, doublecortin.
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| Cornell B, Wachi T, Zhukarev V, Toyo-Oka K.
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| Hum Mol Genet 25(20):4405-4418. doi: 10.1093/hmg/ddw270. Erratum in: Hum Mol Genet. 2016 Oct 15;25(20):4610.
2016
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| 2 | BHLHA9, DUP17P13, SHFM10
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| Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.
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| Petit F, Andrieux J, Demeer B, Collet LM, Copin H, Boudry-Labis E, Escande F, Manouvrier-Hanu S, Mathieu-Dramard M.
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| Eur J Med Genet 56(2):88-92. doi: 10.1016/j.ejmg.2012.11.002. Epub 2012 Nov 30.
2013
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| 3 | DUP17P13
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| 17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.
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| Coutton C, Devillard F, Vieville G, Amblard F, Lopez G, Jouk PS, Satre V.
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| Am J Med Genet A 158A(10):2564-70. doi: 10.1002/ajmg.a.35553. Epub 2012 Aug 17.
2012
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| 4 | BHLHA9, DUP17P13, SHFM10
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| Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
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| Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S.
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| J Med Genet 49(2):119-25. Epub 2011 Dec 6.
2012
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| 5 | DUP17P13, PAFAH1B1, YWHAE
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| A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
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| Hyon C, Marlin S, Chantot-Bastaraud S, Mabboux P, Beaujard MP, Al Ageeli E, Vazquez MP, Picard A, Siffroi JP, Portnoï MF.
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| Eur J Med Genet 54(3):287-91. Epub 2010 Dec 31.
2011
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| 6 | DUP17P13, PAFAH1B1
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| A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene.
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| Avela K, Aktan-Collan K, Horelli-Kuitunen N, Knuutila S, Somer M.
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| Am J Med Genet A 155(4):875-9. doi: 10.1002/ajmg.a.33944. Epub 2011 Mar 15. No abstract available.
2011
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| 7 | BHLHA9, DUP17P13, SHFM10
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| 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
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| Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE.
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| Eur J Hum Genet 19(11):1144-51. doi: 10.1038/ejhg.2011.97. Epub 2011 Jun 1.
2011
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| 8 | DEL17P13, DEL17P13D, DUP17P13, MDS, PAFAH1B1, YWHAE
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| Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
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| Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.
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| J Med Genet 47(5):299-311.PMID: 20452996 2010
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| 9 | CMT1A, DUP17P11, DUP17P13
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| Genomic and clinical characteristics of microduplications in chromosome 17.
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| Shchelochkov OA, Cheung SW, Lupski JR.
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| Am J Med Genet A 152A(5):1101-10.PMID: 20425816 2010
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| 10 | DUP17P13, LIS1, MDS, PAFAH1B1
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| Increased LIS1 expression affects human and mouse brain development.
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| Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O.
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| Nat Genet 41(2):168-77. Epub 2009 Jan 11. 2009
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| 11 | DUP17P13, MDS, PAFAH1B1
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| A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.
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| Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M.
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| J Med Genet 46:703-710 2009
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| 12 | DUP17P13, LIS1, PAFAH1B1
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| High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.
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| Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R.
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| J Med Genet 45(6):355-361. Epub 2008 Feb 19. 2008
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