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Journal Abstract Search

641 related items for PubMed ID: 11567139

  • 1. 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.
    Science; 2001 Sep 21; 293(5538):2256-9. PubMed ID: 11567139
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  • 2. 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.
    Nat Genet; 2002 Aug 21; 31(4):435-8. PubMed ID: 12118255
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  • 3. Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
    Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossée M, Dollfus H.
    Eur J Hum Genet; 2005 May 21; 13(5):607-16. PubMed ID: 15770229
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  • 4. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
    Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG.
    Hum Genet; 2002 Jun 21; 110(6):561-7. PubMed ID: 12107442
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  • 7. 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.
    Nat Genet; 2001 Jun 21; 28(2):188-91. PubMed ID: 11381270
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  • 8. 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.
    Hum Mol Genet; 2005 May 01; 14(9):1109-18. PubMed ID: 15772095
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  • 9. The oligogenic properties of Bardet-Biedl syndrome.
    Katsanis N.
    Hum Mol Genet; 2004 Apr 01; 13 Spec No 1():R65-71. PubMed ID: 14976158
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  • 11. Mutations in MKKS cause Bardet-Biedl syndrome.
    Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG.
    Nat Genet; 2000 Sep 01; 26(1):15-6. PubMed ID: 10973238
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  • 16. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
    White DR, Ganesh A, Nishimura D, Rattenberry E, Ahmed S, Smith UM, Pasha S, Raeburn S, Trembath RC, Rajab A, Macdonald F, Banin E, Stone EM, Johnson CA, Sheffield VC, Maher ER.
    Eur J Hum Genet; 2007 Feb 01; 15(2):173-8. PubMed ID: 17106446
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  • 17. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.
    Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA.
    J Med Genet; 1999 Jun 01; 36(6):437-46. PubMed ID: 10874630
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  • 18. Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.
    Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS.
    Genomics; 1999 Jan 01; 55(1):2-9. PubMed ID: 9888993
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  • 19. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
    Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR.
    Am J Hum Genet; 2001 Mar 01; 68(3):606-16. PubMed ID: 11179009
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  • 20. 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.
    Am J Hum Genet; 2003 Feb 01; 72(2):429-37. PubMed ID: 12524598
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