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Journal Abstract Search

197 related items for PubMed ID: 10420196

  • 1. 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]

  • 2. 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]

  • 3. REP-1 gene mutations in Japanese patients with choroideremia.
    Fujiki K, Hotta Y, Hayakawa M, Saito A, Mashima Y, Mori M, Yoshii M, Murakami A, Matsumoto M, Hayasaka S, Tagami N, Isashiki Y, Ohba N, Kanai A.
    Graefes Arch Clin Exp Ophthalmol; 1999 Sep; 237(9):735-40. PubMed ID: 10447648
    [Abstract] [Full Text] [Related]

  • 4. Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.
    Rudolph G, Preising M, Kalpadakis P, Haritoglou C, Lang GE, Lorenz B.
    Ophthalmic Genet; 2003 Dec; 24(4):203-14. PubMed ID: 14566650
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
    Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2017 Nov; 255(11):2099-2111. PubMed ID: 28752371
    [Abstract] [Full Text] [Related]

  • 8. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
    Guo H, Li J, Gao F, Li J, Wu X, Liu Q.
    BMC Ophthalmol; 2015 Jul 28; 15():85. PubMed ID: 26216097
    [Abstract] [Full Text] [Related]

  • 9. [Clinical and genetic features of choroideremia].
    Ohba N, Isashiki Y.
    Nippon Ganka Gakkai Zasshi; 1999 Nov 28; 103(11):773-81. PubMed ID: 10589235
    [Abstract] [Full Text] [Related]

  • 10. Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene.
    Itabashi T, Wada Y, Kawamura M, Sato H, Tamai M.
    Retina; 2004 Dec 28; 24(6):940-5. PubMed ID: 15579993
    [Abstract] [Full Text] [Related]

  • 11. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
    Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH.
    Ophthalmology; 2006 Nov 28; 113(11):2066.e1-10. PubMed ID: 16935340
    [Abstract] [Full Text] [Related]

  • 12. Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.
    Contestabile MT, Piane M, Cascone NC, Pasquale N, Ciarnella A, Recupero SM, Chessa L.
    Mol Vis; 2014 Nov 28; 20():325-33. PubMed ID: 24672218
    [Abstract] [Full Text] [Related]

  • 13. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
    Jacobson SG, Cideciyan AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EA, Roman AJ, Stone EM, MacDonald IM.
    Invest Ophthalmol Vis Sci; 2006 Sep 28; 47(9):4113-20. PubMed ID: 16936131
    [Abstract] [Full Text] [Related]

  • 14. Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.
    Skorczyk-Werner A, Wawrocka A, Kochalska N, Krawczynski MR.
    Orphanet J Rare Dis; 2018 Dec 12; 13(1):221. PubMed ID: 30541579
    [Abstract] [Full Text] [Related]

  • 15. Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia.
    Zhou Q, Liu L, Xu F, Li H, Sergeev Y, Dong F, Jiang R, MacDonald I, Sui R.
    Mol Vis; 2012 Dec 12; 18():309-16. PubMed ID: 22355242
    [Abstract] [Full Text] [Related]

  • 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 12; 3(7):1047-51. PubMed ID: 7981671
    [Abstract] [Full Text] [Related]

  • 17. 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 12; 50(6):3009-16. PubMed ID: 19117920
    [Abstract] [Full Text] [Related]

  • 18. Clinical findings in a carrier of a new mutation in the choroideremia gene.
    Potter MJ, Wong E, Szabo SM, McTaggart KE.
    Ophthalmology; 2004 Oct 12; 111(10):1905-9. PubMed ID: 15465555
    [Abstract] [Full Text] [Related]

  • 19. 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 12; 17(7):726-9. PubMed ID: 9678418
    [Abstract] [Full Text] [Related]

  • 20. Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.
    Ben Charfeddine I, Ben Lazreg T, Ben Rayana N, Amara A, Mamaï O, Knani L, Mili A, M'sakni A, Saad A, Ben Hadj Hamida F, Gribaa M.
    Ann Biol Clin (Paris); 2015 Jul 12; 73(4):469-73. PubMed ID: 26411914
    [Abstract] [Full Text] [Related]

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