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A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.
Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS. Young TL, et al. Among authors: davidson ws. Am J Hum Genet. 1999 Mar;64(3):900-4. doi: 10.1086/302301. Am J Hum Genet. 1999. PMID: 10053027 Free PMC article. No abstract available.
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: davidson ws. 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.
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR. Fan Y, et al. Among authors: davidson ws. Nat Genet. 2004 Sep;36(9):989-93. doi: 10.1038/ng1414. Epub 2004 Aug 15. Nat Genet. 2004. PMID: 15314642
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.
Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS. Moore SJ, et al. Among authors: davidson ws. Am J Med Genet A. 2005 Feb 1;132A(4):352-60. doi: 10.1002/ajmg.a.30406. Am J Med Genet A. 2005. PMID: 15637713 Free PMC article.
326 results