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Journal Abstract Search

178 related items for PubMed ID: 8298649

  • 1. 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; 5(4):392-6. PubMed ID: 8298649
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  • 3. 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; 7(1):108-12. PubMed ID: 8075632
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  • 6. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.
    Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC.
    Hum Mol Genet; 1995 Jan; 4(1):9-13. PubMed ID: 7711739
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  • 7. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.
    Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL, Stone EM.
    Hum Mol Genet; 1994 Aug; 3(8):1331-5. PubMed ID: 7987310
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  • 8. 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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  • 9. Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs.
    Croft JB, Swift M.
    Am J Med Genet; 1990 May 15; 36(1):37-42. PubMed ID: 2333905
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  • 10. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
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  • 13. 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 17; 110(6):561-7. PubMed ID: 12107442
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  • 18. Linkage and potential association of obesity-related phenotypes with two genes on chromosome 12q24 in a female dizygous twin cohort.
    Wilson SG, Adam G, Langdown M, Reneland R, Braun A, Andrew T, Surdulescu GL, Norberg M, Dudbridge F, Reed PW, Sambrook PN, Kleyn PW, Spector TD.
    Eur J Hum Genet; 2006 Mar 17; 14(3):340-8. PubMed ID: 16391564
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  • 19. 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 17; 9(10):753-7. PubMed ID: 11781686
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  • 20. Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
    Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Jul 17; 41(8):2080-6. PubMed ID: 10892847
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