Citations for
1CNOT6, CYFIP1, EDIL3, FDFT1, GATA4, GJA5, HAND2, NEIL2, NIPA1, NIPA2, TUBGCP5
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.
Am J Hum Genet 91(3):489-501. Epub 2012 Aug 30. 2012
2NIPA2
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.
Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H, Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P, Wu X.
Hum Genet 131(7):1217-24. Epub 2012 Feb 26. 2012
3CYFIP1, DEL15Q11, NIPA1, NIPA2, TUBGCP5
15q11.2 microdeletion - Seven new patients with delayed development and/or behavioural problems.
von der Lippe C, Rustad C, Heimdal K, Rødningen OK.
Eur J Med Genet 54(3):357-60. Epub 2010 Dec 25. 2011
4NIPA2
Molecular identification of ancient and modern mammalian magnesium transporters.
Quamme GA.
Am J Physiol Cell Physiol 298(3):C407-29. Epub 2009 Nov 25. Review. 2010
5CYFiP1, DEL15Q11, NIPA1, NIPA2, PWS, TUBGCP5
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM.
Eur J Med Genet 52(2-3):108-15. Epub 2009 Mar 27. 2009
6CYFIP1, GOLGA8EP, GOLGA8F, NIPA2, PWS, WHDC1L1
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for from the proximal breakpoint region.
Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork C, Shaffer LG, Beaudet AL.
BMC Genomics 9(1):50 [Epub ahead of print] 2008
7NIPA2
Functional characterization of NIPA2, a selective Mg2+ transporter.
Goytain A, Hines RM, Quamme GA.
Am J Physiol Cell Physiol 295(4):C944-53. Epub 2008 Jul 30. 2008
8CYFIP1, DEL15Q11, NIPA2, PWS
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.
Bittel DC, Kibiryeva N, Butler MG.
Pediatrics 118(4):e1276-83. Epub 2006 Sep 18. 2006
9NIPA2
Gene expression profiling predicts clinical outcome of prostate cancer.
Glinsky GV, Glinskii AB, Stephenson AJ, Hoffman RM, Gerald WL.
J Clin Invest 113(6):913-23. 2004
10AS, BUD5SL, CYFIP1, NIPA1, NIPA2, PWS, TUBGCP5
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.
Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD.
Am J Hum Genet 73(4):898-925. Epub 2003 Sep 23. 2003