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Page 1
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: searby cc. Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865. Hum Mol Genet. 2001. PMID: 11285252
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: searby cc. Nat Genet. 2001 Jun;28(2):188-91. doi: 10.1038/88925. Nat Genet. 2001. PMID: 11381270
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: searby cc. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118255
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: searby cc. 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.
103 results