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Journal Abstract Search

187 related items for PubMed ID: 2491012

  • 1. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.
    Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, van den Engh G, Collins FS, Nussbaum RL.
    Am J Hum Genet; 1989 Oct; 45(4):530-40. PubMed ID: 2491012
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  • 2. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.
    Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HH.
    Genomics; 1989 Jan; 4(1):41-6. PubMed ID: 2914708
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  • 5. DXS26 (HU16) is located in Xq21.1.
    Sankila EM, Bruns GA, Schwartz M, Nikoskelainen E, Niebuhr E, Hodgson SV, Wright AF, de la Chapelle A.
    Hum Genet; 1990 Jun; 85(1):117-20. PubMed ID: 2162804
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  • 7. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.
    Brunner HG, van Bennekom A, Lambermon EM, Oei TL, Cremers WR, Wieringa B, Ropers HH.
    Hum Genet; 1988 Dec; 80(4):337-40. PubMed ID: 2904400
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  • 8. Isolation of a candidate gene for choroideremia.
    Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum RL.
    Proc Natl Acad Sci U S A; 1992 Mar 15; 89(6):2135-9. PubMed ID: 1549574
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  • 19. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
    Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H.
    Genomics; 1999 Dec 15; 62(3):332-43. PubMed ID: 10644430
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