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150 related items for PubMed ID: 10447648

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 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 Sep; 9(2):110-7. PubMed ID: 9067750
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  • 8. 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]

  • 9. 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; 24(6):940-5. PubMed ID: 15579993
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. 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; 47(9):4113-20. PubMed ID: 16936131
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.
    Yip SP, Cheung TS, Chu MY, Cheung SC, Leung KW, Tsang KP, Lam ST, To CH.
    Mol Vis; 2007 Nov 27; 13():2183-93. PubMed ID: 18087237
    [Abstract] [Full Text] [Related]

  • 15. No missense mutation in choroideremia patients analyzed to date.
    Beaufrère L, Claustres M, Tuffery S.
    Ophthalmic Genet; 1999 Jun 27; 20(2):89-93. PubMed ID: 10420193
    [Abstract] [Full Text] [Related]

  • 16. 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 27; 20(3):189-96. PubMed ID: 12203991
    [Abstract] [Full Text] [Related]

  • 17. 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 Sep 27; 18():309-16. PubMed ID: 22355242
    [Abstract] [Full Text] [Related]

  • 18. The functional effect of pathogenic mutations in Rab escort protein 1.
    Sergeev YV, Smaoui N, Sui R, Stiles D, Gordiyenko N, Strunnikova N, Macdonald IM.
    Mutat Res; 2009 Jun 01; 665(1-2):44-50. PubMed ID: 19427510
    [Abstract] [Full Text] [Related]

  • 19. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.
    van den Hurk JA, Hendriks W, van de Pol DJ, Oerlemans F, Jaissle G, Rüther K, Kohler K, Hartmann J, Zrenner E, van Bokhoven H, Wieringa B, Ropers HH, Cremers FP.
    Hum Mol Genet; 1997 Jun 01; 6(6):851-8. PubMed ID: 9175730
    [Abstract] [Full Text] [Related]

  • 20. 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]

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