Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

359 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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
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.
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.
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
Davis RE, Swiderski RE, Rahmouni K, Nishimura DY, Mullins RF, Agassandian K, Philp AR, Searby CC, Andrews MP, Thompson S, Berry CJ, Thedens DR, Yang B, Weiss RM, Cassell MD, Stone EM, Sheffield VC. Davis RE, et al. Among authors: sheffield vc. Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19422-7. doi: 10.1073/pnas.0708571104. Epub 2007 Nov 21. Proc Natl Acad Sci U S A. 2007. PMID: 18032602 Free PMC article.
359 results