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Journal Abstract Search

135 related items for PubMed ID: 3438052

  • 1.
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  • 2. Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.
    Hodgson SV, Robertson ME, Fear CN, Goodship J, Malcolm S, Jay B, Bobrow M, Pembrey ME.
    Hum Genet; 1987 Mar; 75(3):286-90. PubMed ID: 3030927
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  • 3. Choroideremia in interstitial deletion of the X chromosome.
    Rosenberg T, Schwartz M, Niebuhr E, Yang HM, Sardemann H, Andersen O, Lundsteen C.
    Ophthalmic Paediatr Genet; 1986 Dec; 7(3):205-10. PubMed ID: 2882458
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  • 4. 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. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.
    Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA, Ledbetter DH.
    Proc Natl Acad Sci U S A; 1987 Sep; 84(18):6521-5. PubMed ID: 3476958
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  • 7. A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.
    Liang S, Jiang N, Li S, Jiang X, Yu D.
    Mol Cytogenet; 2017 Sep; 10():23. PubMed ID: 28630650
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  • 9. 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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  • 10. Choroideremia, obesity, and congenital deafness.
    Ayazi S.
    Am J Ophthalmol; 1981 Jul; 92(1):63-9. PubMed ID: 7258279
    [No Abstract] [Full Text] [Related]

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  • 12. Deletion of the DXS165 locus in patients with classical choroideremia.
    Cremers FP, Brunsmann F, van de Pol TJ, Pawlowitzki IH, Paulsen K, Wieringa B, Ropers HH.
    Clin Genet; 1987 Dec; 32(6):421-3. PubMed ID: 3481306
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  • 13. Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.
    Schwartz M, Yang HM, Niebuhr E, Rosenberg T, Page DC.
    Hum Genet; 1988 Feb; 78(2):156-60. PubMed ID: 3422216
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  • 14. Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus.
    Lesko JG, Lewis RA, Nussbaum RL.
    Am J Hum Genet; 1987 Apr; 40(4):303-11. PubMed ID: 2883887
    [Abstract] [Full Text] [Related]

  • 15. The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.
    Sims KB, Lebo RV, Benson G, Shalish C, Schuback D, Chen ZY, Bruns G, Craig IW, Golbus MS, Breakefield XO.
    Hum Mol Genet; 1992 May; 1(2):83-9. PubMed ID: 1301161
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  • 17. Molecular characterization of a deleted X chromosome (Xq13.3-Xq21.31) exhibiting random X inactivation.
    Migeon BR, Stetten G, Tuck-Muller C, Axelman J, Jani M, Dungy D.
    Somat Cell Mol Genet; 1995 Mar; 21(2):113-20. PubMed ID: 7570183
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  • 18. Choroideremia-locus maps between DXS3 and DXS11 on Xq.
    Gal A, Brunsmann F, Hogenkamp D, Rüther K, Ahlert D, Wienker TF, Hammerstein W, Pawlowitzki IH.
    Hum Genet; 1986 Jun; 73(2):123-6. PubMed ID: 3755117
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  • 19. Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24.
    Lewis RA, Nussbaum RL, Ferrell R.
    Ophthalmology; 1985 Jun; 92(6):800-6. PubMed ID: 4034175
    [Abstract] [Full Text] [Related]

  • 20. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.
    Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, Gimenez A, Infantes F, Ramos C, Garcia-Sandoval B, Ayuso C.
    Ophthalmic Genet; 2000 Sep; 21(3):185-9. PubMed ID: 11035551
    [Abstract] [Full Text] [Related]

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