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Journal Abstract Search

171 related items for PubMed ID: 8075632

  • 1.
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  • 2. 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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  • 3. 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.
    Nat Genet; 1993 Dec 01; 5(4):392-6. PubMed ID: 8298649
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  • 5. 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 01; 110(6):561-7. PubMed ID: 12107442
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  • 6. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.
    Carmi R, Elbedour K, Stone EM, Sheffield VC.
    Am J Med Genet; 1995 Nov 06; 59(2):199-203. PubMed ID: 8588586
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  • 7. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
    Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG.
    Eur J Hum Genet; 2006 May 06; 14(5):543-8. PubMed ID: 16493448
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  • 8. 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 06; 15(2):173-8. PubMed ID: 17106446
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  • 11. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.
    Børglum AD, Balslev T, Haagerup A, Birkebaek N, Binderup H, Kruse TA, Hertz JM.
    Eur J Hum Genet; 2001 Oct 06; 9(10):753-7. PubMed ID: 11781686
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  • 12. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.
    Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, de la Chapelle A.
    Nat Genet; 1994 Jun 06; 7(2):201-4. PubMed ID: 7920642
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  • 13. 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 06; 28(2):188-91. PubMed ID: 11381270
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  • 14. 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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  • 15. Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene.
    Biancalana V, Trivier E, Weber C, Weissenbach J, Rowe PS, O'Riordan JL, Partington MW, Heyberger S, Oudet C, Hanauer A.
    Genomics; 1994 Aug 01; 22(3):617-25. PubMed ID: 8001973
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  • 17. 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
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  • 18. 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
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  • 19. Bardet-Biedl syndrome: a case report.
    Karaman A.
    Dermatol Online J; 2008 Jan 15; 14(1):9. PubMed ID: 18319026
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  • 20. 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 15; 65(6):1672-9. PubMed ID: 10577921
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