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Page 1
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Lüleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: sheffield vc. Am J Hum Genet. 2003 Feb;72(2):429-37. doi: 10.1086/346172. Epub 2003 Jan 10. Am J Hum Genet. 2003. PMID: 12524598 Free PMC article.
Mutations in MKKS cause Bardet-Biedl syndrome.
Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Slavotinek AM, et al. Among authors: sheffield vc. Nat Genet. 2000 Sep;26(1):15-6. doi: 10.1038/79116. Nat Genet. 2000. PMID: 10973238
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: sheffield vc. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118255
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.
Héon E, Westall C, Carmi R, Elbedour K, Panton C, Mackeen L, Stone EM, Sheffield VC. Héon E, et al. Among authors: sheffield vc. Am J Med Genet A. 2005 Jan 30;132A(3):283-7. doi: 10.1002/ajmg.a.30466. Am J Med Genet A. 2005. PMID: 15690372
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC. Fath MA, et al. Among authors: sheffield vc. Hum Mol Genet. 2005 May 1;14(9):1109-18. doi: 10.1093/hmg/ddi123. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772095
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC. Chiang AP, et al. Among authors: sheffield vc. Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6287-92. doi: 10.1073/pnas.0600158103. Epub 2006 Apr 10. Proc Natl Acad Sci U S A. 2006. PMID: 16606853 Free PMC article.
360 results