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Journal Abstract Search

217 related items for PubMed ID: 9754170

  • 1. A practical diagnostic test for choroideremia.
    MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC.
    Ophthalmology; 1998 Sep; 105(9):1637-40. PubMed ID: 9754170
    [Abstract] [Full Text] [Related]

  • 2. Mutational analysis of patients with the diagnosis of choroideremia.
    McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM.
    Hum Mutat; 2002 Sep; 20(3):189-96. PubMed ID: 12203991
    [Abstract] [Full Text] [Related]

  • 3. Mutation analysis in Canadian families with choroideremia.
    Nesslinger N, Mitchell G, Strasberg P, MacDonald IM.
    Ophthalmic Genet; 1996 Jun; 17(2):47-52. PubMed ID: 8832720
    [Abstract] [Full Text] [Related]

  • 4. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
    van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FP.
    Hum Mutat; 1997 Jun; 9(2):110-7. PubMed ID: 9067750
    [Abstract] [Full Text] [Related]

  • 5. Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.
    Beaufrère L, Rieu S, Hache JC, Dumur V, Claustres M, Tuffery S.
    Curr Eye Res; 1998 Jul; 17(7):726-9. PubMed ID: 9678418
    [Abstract] [Full Text] [Related]

  • 6. A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma.
    Hotta Y, Fujiki K, Hayakawa M, Kohno N, Kitagawa H, Doi R, Kanai A.
    Graefes Arch Clin Exp Ophthalmol; 1997 Oct; 235(10):653-5. PubMed ID: 9349950
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetic diagnostic techniques in choroideremia.
    Furgoch MJ, Mewes-Arès J, Radziwon A, Macdonald IM.
    Mol Vis; 2014 Oct; 20():535-44. PubMed ID: 24791138
    [Abstract] [Full Text] [Related]

  • 8. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients.
    Hayakawa M, Fujiki K, Hotta Y, Ito R, Ohki J, Ono J, Saito A, Nakayasu K, Kanai A, Ishidoh K, Kominami E, Yoshida K, Kim KC, Ohashi H.
    Ophthalmic Genet; 1999 Jun; 20(2):107-15. PubMed ID: 10420196
    [Abstract] [Full Text] [Related]

  • 9. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
    van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP.
    Hum Genet; 2003 Aug; 113(3):268-75. PubMed ID: 12827496
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  • 16. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.
    van Bokhoven H, Schwartz M, Andréasson S, van den Hurk JA, Bogerd L, Jay M, Rüther K, Jay B, Pawlowitzki IH, Sankila EM.
    Hum Mol Genet; 1994 Jul; 3(7):1047-51. PubMed ID: 7981671
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  • 17. New type of mutations in three spanish families with choroideremia.
    Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2008 Apr; 49(4):1315-21. PubMed ID: 18385043
    [Abstract] [Full Text] [Related]

  • 18. Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.
    Moosajee M, Tulloch M, Baron RA, Gregory-Evans CY, Pereira-Leal JB, Seabra MC.
    Invest Ophthalmol Vis Sci; 2009 Jun; 50(6):3009-16. PubMed ID: 19117920
    [Abstract] [Full Text] [Related]

  • 19. Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
    Francis PJ, Fishman GA, Trzupek KM, MacDonald IM, Stone EM, Weleber RG.
    Arch Ophthalmol; 2005 Aug; 123(8):1146-9. PubMed ID: 16087855
    [No Abstract] [Full Text] [Related]

  • 20. No missense mutation in choroideremia patients analyzed to date.
    Beaufrère L, Claustres M, Tuffery S.
    Ophthalmic Genet; 1999 Jun; 20(2):89-93. PubMed ID: 10420193
    [Abstract] [Full Text] [Related]

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