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Year | Number of Results |
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1993 | 1 |
2001 | 2 |
2004 | 1 |
2023 | 0 |
PubMed (OMIM) for id: 422453
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Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16588-93. doi: 10.1073/pnas.0405496101. Epub 2004 Nov 11.
Proc Natl Acad Sci U S A. 2004.
PMID: 15539463
Free PMC article.
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR.
Katsanis N, et al.
Science. 2001 Sep 21;293(5538):2256-9. doi: 10.1126/science.1063525.
Science. 2001.
PMID: 11567139
Item in Clipboard
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.
Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865.
Hum Mol Genet. 2001.
PMID: 11285252
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Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.
Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM, Sheffield VC.
Kwitek-Black AE, et al.
Nat Genet. 1993 Dec;5(4):392-6. doi: 10.1038/ng1293-392.
Nat Genet. 1993.
PMID: 8298649
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