Pamela R. Pretorius, Ph.D.

Affiliations: 
2010 Genetics University of Iowa, Iowa City, IA 
Area:
Genetics
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"Pamela Pretorius"
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Val C. Sheffield grad student 2010 University of Iowa
 (Elucidating a role for BBS3 in syndromic and non-syndromic retinal disease.)
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Publications

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Duffy EA, Pretorius PR, Lerach S, et al. (2015) Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A. American Journal of Medical Genetics. Part A. 167: 2674-83
Wright KJ, Baye LM, Olivier-Mason A, et al. (2011) An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes & Development. 25: 2347-60
Pretorius PR, Aldahmesh MA, Alkuraya FS, et al. (2011) Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Human Molecular Genetics. 20: 1625-32
Pretorius PR, Baye LM, Nishimura DY, et al. (2010) Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. Plos Genetics. 6: e1000884
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