BBS1

Bardet-Biedl syndrome 1, also known as BBS1, is a human gene.cite web | title = Entrez Gene: BBS1 Bardet-Biedl syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=582| accessdate = ]

PBB_Summary
section_title =
summary_text = Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.cite web | title = Entrez Gene: BBS1 Bardet-Biedl syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=582| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Beales PL, Warner AM, Hitman GA, "et al." |title=Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. |journal=J. Med. Genet. |volume=34 |issue= 2 |pages= 92–8 |year= 1997 |pmid= 9039982 |doi=
*cite journal | author=Katsanis N, Lewis RA, Stockton DW, "et al." |title=Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. |journal=Am. J. Hum. Genet. |volume=65 |issue= 6 |pages= 1672–9 |year= 2000 |pmid= 10577921 |doi=
*cite journal | author=Young TL, Woods MO, Parfrey PS, "et al." |title=A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. |journal=Am. J. Hum. Genet. |volume=65 |issue= 6 |pages= 1680–7 |year= 2000 |pmid= 10577922 |doi=
*cite journal | author=Beales PL, Reid HA, Griffiths MH, "et al." |title=Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. |journal=Nephrol. Dial. Transplant. |volume=15 |issue= 12 |pages= 1977–85 |year= 2001 |pmid= 11096143 |doi=
*cite journal | author=Mykytyn K, Nishimura DY, Searby CC, "et al." |title=Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. |journal=Nat. Genet. |volume=31 |issue= 4 |pages= 435–8 |year= 2002 |pmid= 12118255 |doi= 10.1038/ng935
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Mykytyn K, Nishimura DY, Searby CC, "et al." |title=Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). |journal=Am. J. Hum. Genet. |volume=72 |issue= 2 |pages= 429–37 |year= 2003 |pmid= 12524598 |doi=
*cite journal | author=Badano JL, Ansley SJ, Leitch CC, "et al." |title=Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. |journal=Am. J. Hum. Genet. |volume=72 |issue= 3 |pages= 650–8 |year= 2003 |pmid= 12567324 |doi=
*cite journal | author=Beales PL, Badano JL, Ross AJ, "et al." |title=Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. |journal=Am. J. Hum. Genet. |volume=72 |issue= 5 |pages= 1187–99 |year= 2003 |pmid= 12677556 |doi=
*cite journal | author=Badano JL, Kim JC, Hoskins BE, "et al." |title=Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1651–9 |year= 2003 |pmid= 12837689 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Fan Y, Esmail MA, Ansley SJ, "et al." |title=Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. |journal=Nat. Genet. |volume=36 |issue= 9 |pages= 989–93 |year= 2004 |pmid= 15314642 |doi= 10.1038/ng1414
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Fan Y, Green JS, Ross AJ, "et al." |title=Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval. |journal=Hum. Genet. |volume=116 |issue= 1-2 |pages= 62–71 |year= 2005 |pmid= 15517396 |doi= 10.1007/s00439-004-1184-9
*cite journal | author=Azari AA, Aleman TS, Cideciyan AV, "et al." |title=Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 11 |pages= 5004–10 |year= 2006 |pmid= 17065520 |doi= 10.1167/iovs.06-0517

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