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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL. Ross AJ, et al. Among authors: lupski jr. Nat Genet. 2005 Oct;37(10):1135-40. doi: 10.1038/ng1644. Epub 2005 Sep 18. Nat Genet. 2005. PMID: 16170314
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. Beales PL, et al. Among authors: lupski jr. Am J Hum Genet. 2001 Mar;68(3):606-16. doi: 10.1086/318794. Epub 2001 Feb 1. Am J Hum Genet. 2001. PMID: 11179009 Free PMC article.
An evaluation of the draft human genome sequence.
Katsanis N, Worley KC, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Nat Genet. 2001 Sep;29(1):88-91. doi: 10.1038/ng0901-88. Nat Genet. 2001. PMID: 11528399
Exploring the molecular basis of Bardet-Biedl syndrome.
Katsanis N, Lupski JR, Beales PL. Katsanis N, et al. Among authors: lupski jr. Hum Mol Genet. 2001 Oct 1;10(20):2293-9. doi: 10.1093/hmg/10.20.2293. Hum Mol Genet. 2001. PMID: 11673413 Review.
923 results