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Journal Abstract Search

234 related items for PubMed ID: 30541579

  • 1. 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]

  • 2. 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]

  • 3. Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.
    Lin Y, Liu X, Luo L, Qu B, Jiang S, Yang H, Liang X, Ye S, Liu Y.
    Mol Vis; 2011 Jul 28; 17():2564-9. PubMed ID: 22025891
    [Abstract] [Full Text] [Related]

  • 4. Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
    Bae K, Song JS, Lee C, Kim NKD, Park WY, Kim BJ, Ki CS, Kim SJ.
    Ann Lab Med; 2017 Sep 28; 37(5):438-442. PubMed ID: 28643494
    [Abstract] [Full Text] [Related]

  • 5. Genetic analysis of choroideremia families in the Australian population.
    McLaren TL, De Roach JN, Montgomery H, Hoffmann L, Kap C, Lamey TM.
    Clin Exp Ophthalmol; 2015 Nov 28; 43(8):727-34. PubMed ID: 25912515
    [Abstract] [Full Text] [Related]

  • 6. 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 28; 113(3):268-75. PubMed ID: 12827496
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 28; 18():309-16. PubMed ID: 22355242
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 27; 20(2):107-15. PubMed ID: 10420196
    [Abstract] [Full Text] [Related]

  • 11. A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.
    Iino Y, Fujimaki T, Fujiki K, Murakami A.
    Jpn J Ophthalmol; 2008 Jun 27; 52(4):289-297. PubMed ID: 18773267
    [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 Jun 27; 20():325-33. PubMed ID: 24672218
    [Abstract] [Full Text] [Related]

  • 13. 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 Jun 27; 73(4):469-73. PubMed ID: 26411914
    [Abstract] [Full Text] [Related]

  • 14. Single-base substitutions in the CHM promoter as a cause of choroideremia.
    Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, G Birch D, Webster AR, MacDonald IM.
    Hum Mutat; 2017 Jun 27; 38(6):704-715. PubMed ID: 28271586
    [Abstract] [Full Text] [Related]

  • 15. A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
    Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, Sanchez-Bolivar N, Zurita O, Gimenez A, Villaverde C, Rodrigues-Jacy da Silva L, Corton M, Perez-Carro R, Torriano S, Kalatzis V, Rivolta C, Avila-Fernandez A, Lorda I, Trujillo-Tiebas MJ, Garcia-Sandoval B, Lopez-Molina MI, Blanco-Kelly F, Riveiro-Alvarez R, Ayuso C.
    PLoS One; 2016 Jun 27; 11(4):e0151943. PubMed ID: 27070432
    [Abstract] [Full Text] [Related]

  • 16. Novel CHM mutations identified in Chinese families with Choroideremia.
    Cai XB, Huang XF, Tong Y, Lu QK, Jin ZB.
    Sci Rep; 2016 Oct 14; 6():35360. PubMed ID: 27739455
    [Abstract] [Full Text] [Related]

  • 17. A practical diagnostic test for choroideremia.
    MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC.
    Ophthalmology; 1998 Sep 14; 105(9):1637-40. PubMed ID: 9754170
    [Abstract] [Full Text] [Related]

  • 18. A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.
    Ouyang P, Li Y, Zhang F, Zhu C, Zou B, Le J, Zhang L.
    Mol Med Rep; 2018 Jun 14; 17(6):7918-7924. PubMed ID: 29620233
    [Abstract] [Full Text] [Related]

  • 19. High-resolution images of retinal structure in patients with choroideremia.
    Syed R, Sundquist SM, Ratnam K, Zayit-Soudry S, Zhang Y, Crawford JB, MacDonald IM, Godara P, Rha J, Carroll J, Roorda A, Stepien KE, Duncan JL.
    Invest Ophthalmol Vis Sci; 2013 Feb 01; 54(2):950-61. PubMed ID: 23299470
    [Abstract] [Full Text] [Related]

  • 20. Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients.
    Zhou Q, Yao F, Han X, Li H, Yang L, Sui R.
    Exp Eye Res; 2017 Nov 01; 164():64-73. PubMed ID: 28774736
    [Abstract] [Full Text] [Related]

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