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543 related items for PubMed ID: 10973238

  • 1. 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; 26(1):15-6. PubMed ID: 10973238
    [Abstract] [Full Text] [Related]

  • 2. 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; 110(6):561-7. PubMed ID: 12107442
    [Abstract] [Full Text] [Related]

  • 3. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
    Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR.
    Nat Genet; 2000 Sep; 26(1):67-70. PubMed ID: 10973251
    [Abstract] [Full Text] [Related]

  • 4. 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.
    J Med Genet; 2010 Jul; 47(7):453-63. PubMed ID: 20472660
    [Abstract] [Full Text] [Related]

  • 5. 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; 31(4):435-8. PubMed ID: 12118255
    [Abstract] [Full Text] [Related]

  • 6. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
    Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dollfus H.
    Eur J Hum Genet; 2006 Nov; 14(11):1195-203. PubMed ID: 16823392
    [Abstract] [Full Text] [Related]

  • 7. 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; 15(2):173-8. PubMed ID: 17106446
    [Abstract] [Full Text] [Related]

  • 8. A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
    Hulleman JD, Nguyen A, Ramprasad VL, Murugan S, Gupta R, Mahindrakar A, Angara R, Sankurathri C, Mootha VV.
    Mol Vis; 2016 Feb; 22():73-81. PubMed ID: 26900326
    [Abstract] [Full Text] [Related]

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  • 10. 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; 28(2):188-91. PubMed ID: 11381270
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 13(5):607-16. PubMed ID: 15770229
    [Abstract] [Full Text] [Related]

  • 13. Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
    Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS.
    J Med Genet; 2010 Apr 01; 47(4):236-41. PubMed ID: 19858128
    [Abstract] [Full Text] [Related]

  • 14. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
    Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Hellé S, Danse JM, Hamel C, Bitoun P, Goldenberg A, Finck S, Faivre L, Sigaudy S, Holder M, Vincent MC, Marion V, Bonneau D, Verloes A, Nisand I, Mandel JL, Dollfus H.
    Eur J Med Genet; 2011 Apr 01; 54(2):157-60. PubMed ID: 21044901
    [Abstract] [Full Text] [Related]

  • 15. Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
    Khan S, Ullah I, Irfanullah, Touseef M, Basit S, Khan MN, Ahmad W.
    Gene; 2013 Feb 15; 515(1):84-8. PubMed ID: 23219996
    [Abstract] [Full Text] [Related]

  • 16. Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
    Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K.
    Hum Mutat; 2010 Apr 15; 31(4):429-36. PubMed ID: 20120035
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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 21; 36(6):437-46. PubMed ID: 10874630
    [Abstract] [Full Text] [Related]

  • 19. The oligogenic properties of Bardet-Biedl syndrome.
    Katsanis N.
    Hum Mol Genet; 2004 Apr 01; 13 Spec No 1():R65-71. PubMed ID: 14976158
    [Abstract] [Full Text] [Related]

  • 20. Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.
    Hou JW.
    J Formos Med Assoc; 2004 Aug 01; 103(8):629-32. PubMed ID: 15340663
    [Abstract] [Full Text] [Related]

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