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Journal Abstract Search

201 related items for PubMed ID: 30690895

  • 21. 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
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  • 22. Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).
    Murro V, Mucciolo DP, Giorgio D, Sodi A, Passerini I, Bacci G, Bargiacchi S, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2019 Dec 12; 257(12):2655-2663. PubMed ID: 31654189
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  • 23. Novel non-contiguous exon duplication in choroideremia.
    Edwards TL, Williams J, Patrício MI, Simunovic MP, Shanks M, Clouston P, MacLaren RE.
    Clin Genet; 2018 Jan 12; 93(1):144-148. PubMed ID: 28369842
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  • 24. Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.
    de Castro-Miró M, Tonda R, Marfany G, Casaroli-Marano RP, Gonzàlez-Duarte R.
    Br J Ophthalmol; 2018 Oct 12; 102(10):1378-1386. PubMed ID: 29367200
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  • 26. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.
    Renner AB, Fiebig BS, Cropp E, Weber BH, Kellner U.
    Arch Ophthalmol; 2009 Jul 12; 127(7):907-12. PubMed ID: 19597113
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  • 27. Multimodal Imaging of Photoreceptor Structure in Choroideremia.
    Sun LW, Johnson RD, Williams V, Summerfelt P, Dubra A, Weinberg DV, Stepien KE, Fishman GA, Carroll J.
    PLoS One; 2016 Jul 12; 11(12):e0167526. PubMed ID: 27936069
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  • 30. Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.
    Torriano S, Erkilic N, Faugère V, Damodar K, Hamel CP, Roux AF, Kalatzis V.
    Hum Mol Genet; 2017 Sep 15; 26(18):3573-3584. PubMed ID: 28911202
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  • 32. HYPERREFLECTIVE FOCI AS A PATHOGENETIC BIOMARKER IN CHOROIDEREMIA.
    Romano F, Arrigo A, MacLaren RE, Charbel Issa P, Birtel J, Bandello F, Battaglia Parodi M.
    Retina; 2020 Aug 15; 40(8):1634-1640. PubMed ID: 31800458
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  • 33. 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 15; 17(6):7918-7924. PubMed ID: 29620233
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  • 38. 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 15; 20(2):107-15. PubMed ID: 10420196
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  • 39. VASCULAR ALTERATIONS REVEALED WITH OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN PATIENTS WITH CHOROIDEREMIA.
    Battaglia Parodi M, Arrigo A, MacLaren RE, Aragona E, Toto L, Mastropasqua R, Manitto MP, Bandello F.
    Retina; 2019 Jun 15; 39(6):1200-1205. PubMed ID: 29543633
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