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ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.
Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X. Zak J, et al. Among authors: pretorius p. Cell Death Differ. 2016 Dec;23(12):1973-1984. doi: 10.1038/cdd.2016.76. Epub 2016 Jul 22. Cell Death Differ. 2016. PMID: 27447114 Free PMC article.
A rare cause of Horner syndrome.
Costello D, Salmon J, Milford C, Pretorius P. Costello D, et al. Among authors: pretorius p. J Laryngol Otol. 2010 Aug;124(8):925-7. doi: 10.1017/S0022215109992544. Epub 2010 Jan 6. J Laryngol Otol. 2010. PMID: 20053310
Infantile neuroaxonal dystrophy caused by uniparental disomy.
Solomons J, Ridgway O, Hardy C, Kurian MA, Jayawant S, Hughes S, Pretorius P, Németh AH. Solomons J, et al. Among authors: pretorius p. Dev Med Child Neurol. 2014 Apr;56(4):386-9. doi: 10.1111/dmcn.12327. Epub 2013 Nov 15. Dev Med Child Neurol. 2014. PMID: 24628589 Free article.
Transcallosal resection of hypothalamic hamartoma for gelastic epilepsy.
Andrew M, Parr JR, Stacey R, Rosenfeld JV, Hart Y, Pretorius P, Nijhawan S, Zaiwalla Z, McShane MA. Andrew M, et al. Among authors: pretorius p. Childs Nerv Syst. 2008 Feb;24(2):275-9. doi: 10.1007/s00381-007-0448-9. Epub 2007 Sep 9. Childs Nerv Syst. 2008. PMID: 17828541
Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation.
Morris KA, Golding JF, Axon PR, Afridi S, Blesing C, Ferner RE, Halliday D, Jena R, Pretorius PM; UK NF2 Research group; Evans DG, McCabe MG, Parry A. Morris KA, et al. Neurooncol Pract. 2016 Dec;3(4):281-289. doi: 10.1093/nop/npv065. Epub 2016 Jan 7. Neurooncol Pract. 2016. PMID: 29692918 Free PMC article.
278 results