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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 3
2001 2
2002 1
2003 1
2004 1
2005 5
2006 1
2007 2
2008 3
2010 1
2012 1
2017 1
2024 0

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PubMed (cited) for id: 604896

19 results

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Page 1
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A. Rachel RA, et al. J Clin Invest. 2012 Apr;122(4):1233-45. doi: 10.1172/JCI60981. Epub 2012 Mar 26. J Clin Invest. 2012. PMID: 22446187 Free PMC article.
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E. Billingsley G, et al. J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14. J Med Genet. 2010. PMID: 20472660
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H. Stoetzel C, et al. Am J Hum Genet. 2007 Jan;80(1):1-11. doi: 10.1086/510256. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160889 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. 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
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.
19 results