Citations for
1DUP17P13, YWHAE
Regulation of neuronal morphogenesis by 14-3-3epsilon (Ywhae) via the microtubule binding protein, doublecortin.
Cornell B, Wachi T, Zhukarev V, Toyo-Oka K.
Hum Mol Genet 25(20):4405-4418. doi: 10.1093/hmg/ddw270. Erratum in: Hum Mol Genet. 2016 Oct 15;25(20):4610. 2016
2BHLHA9, DUP17P13, SHFM10
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.
Petit F, Andrieux J, Demeer B, Collet LM, Copin H, Boudry-Labis E, Escande F, Manouvrier-Hanu S, Mathieu-Dramard M.
Eur J Med Genet 56(2):88-92. doi: 10.1016/j.ejmg.2012.11.002. Epub 2012 Nov 30. 2013
3DUP17P13
17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.
Coutton C, Devillard F, Vieville G, Amblard F, Lopez G, Jouk PS, Satre V.
Am J Med Genet A 158A(10):2564-70. doi: 10.1002/ajmg.a.35553. Epub 2012 Aug 17. 2012
4BHLHA9, DUP17P13, SHFM10
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
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, Mńkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S.
J Med Genet 49(2):119-25. Epub 2011 Dec 6. 2012
5DUP17P13, PAFAH1B1, YWHAE
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
Hyon C, Marlin S, Chantot-Bastaraud S, Mabboux P, Beaujard MP, Al Ageeli E, Vazquez MP, Picard A, Siffroi JP, Portno´ MF.
Eur J Med Genet 54(3):287-91. Epub 2010 Dec 31. 2011
6DUP17P13, PAFAH1B1
A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene.
Avela K, Aktan-Collan K, Horelli-Kuitunen N, Knuutila S, Somer M.
Am J Med Genet A 155(4):875-9. doi: 10.1002/ajmg.a.33944. Epub 2011 Mar 15. No abstract available. 2011
7BHLHA9, DUP17P13, SHFM10
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
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.
Eur J Hum Genet 19(11):1144-51. doi: 10.1038/ejhg.2011.97. Epub 2011 Jun 1. 2011
8DEL17P13, DEL17P13D, DUP17P13, MDS, PAFAH1B1, YWHAE
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
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, Borgstr÷m B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.
J Med Genet 47(5):299-311.PMID: 20452996 2010
9CMT1A, DUP17P11, DUP17P13
Genomic and clinical characteristics of microduplications in chromosome 17.
Shchelochkov OA, Cheung SW, Lupski JR.
Am J Med Genet A 152A(5):1101-10.PMID: 20425816 2010
10DUP17P13, LIS1, MDS, PAFAH1B1
Increased LIS1 expression affects human and mouse brain development.
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.
Nat Genet 41(2):168-77. Epub 2009 Jan 11. 2009
11DUP17P13, MDS, PAFAH1B1
A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.
Roos L, J°nch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Br°ndum-Nielsen K, Kirchhoff M.
J Med Genet 46:703-710 2009
12DUP17P13, LIS1, PAFAH1B1
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.
Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R.
J Med Genet 45(6):355-361. Epub 2008 Feb 19. 2008