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Journal Abstract Search

595 related items for PubMed ID: 9126487

  • 1. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
    Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF.
    Genomics; 1997 Apr 01; 41(1):93-9. PubMed ID: 9126487
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  • 2. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
    Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA.
    Nat Genet; 1994 May 01; 7(1):108-12. PubMed ID: 8075632
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  • 8. 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 01; 28(2):188-91. PubMed ID: 11381270
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  • 9. 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 01; 26(1):67-70. PubMed ID: 10973251
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  • 10. 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.
    Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR.
    Am J Hum Genet; 1999 Dec 01; 65(6):1672-9. PubMed ID: 10577921
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  • 14. 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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  • 15. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
    Finckh U, Xu S, Kumaramanickavel G, Schürmann M, Mukkadan JK, Fernandez ST, John S, Weber JL, Denton MJ, Gal A.
    Genomics; 1998 Mar 15; 48(3):341-5. PubMed ID: 9545639
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  • 17. The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.
    Gorman SW, Haider NB, Grieshammer U, Swiderski RE, Kim E, Welch JW, Searby C, Leng S, Carmi R, Sheffield VC, Duhl DM.
    Genomics; 1999 Jul 15; 59(2):150-60. PubMed ID: 10409426
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  • 18. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
    Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.
    Clin Genet; 2011 Mar 15; 79(3):273-81. PubMed ID: 20528890
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  • 19. 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 15; 72(2):429-37. PubMed ID: 12524598
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  • 20. 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 15; 14(11):1195-203. PubMed ID: 16823392
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