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Journal Abstract Search

217 related items for PubMed ID: 25843205

  • 1. Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.
    Bisserbe A, Tertian G, Buffet C, Turhan A, Lambotte O, Nasser G, Alvin P, Tardieu M, Riant F, Bergametti F, Tournier-Lasserve E, Denier C.
    Rev Neurol (Paris); 2015 May; 171(5):445-9. PubMed ID: 25843205
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  • 3. Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
    Netravathi M, Kumari R, Kapoor S, Dakle P, Dwivedi MK, Roy SD, Pandey P, Saini J, Ramakrishna A, Navalli D, Satishchandra P, Pal PK, Kumar A, Faruq M.
    BMC Med Genet; 2015 Feb 10; 16():5. PubMed ID: 25928698
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  • 4. Cerebroretinal microangiopathy with calcifications and cysts: A case report.
    Xu W, Zhao J, Zhu Y, Zhang W.
    Medicine (Baltimore); 2017 Jan 10; 96(1):e5545. PubMed ID: 28072696
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  • 8. Leukoencephalopathy, cerebral calcifications and cysts: a family study.
    Karlinger K, Tárnoki ÁD, Tárnoki DL, Polvi A, Lehesjoki AE, Kelemen A, Szegedi L, Turányi E, Kamondi A, Szűcs A.
    J Neurol; 2014 Oct 10; 261(10):1911-6. PubMed ID: 25034270
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  • 9. Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.
    Gu P, Chang S.
    Aging Cell; 2013 Dec 10; 12(6):1100-9. PubMed ID: 23869908
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  • 10. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease.
    Mansukhani S, Ho ML, Gavrilova RH, Mohney BG, Quiram PA, Brodsky MC.
    J AAPOS; 2017 Oct 10; 21(5):420-422. PubMed ID: 28864049
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  • 11. A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.
    Han E, Patel NA, Yannuzzi NA, Laura DM, Fan KC, Negron CI, Prakhunhungsit S, Thorson WL, Berrocal AM.
    Ophthalmic Genet; 2020 Aug 10; 41(4):363-367. PubMed ID: 32543263
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  • 13. Coats Plus Syndrome.
    Collin A, Lecler A.
    JAMA Neurol; 2019 Apr 01; 76(4):501. PubMed ID: 30688973
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  • 17. An Indian child with Coats plus syndrome due to mutations in STN1.
    Passi GR, Shamim U, Rathore S, Joshi A, Mathur A, Parveen S, Sharma P, Crow YJ, Faruq M.
    Am J Med Genet A; 2020 Sep 01; 182(9):2139-2144. PubMed ID: 32627942
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  • 19. Pathogenic CTC1 mutations cause global genome instabilities under replication stress.
    Wang Y, Chai W.
    Nucleic Acids Res; 2018 May 04; 46(8):3981-3992. PubMed ID: 29481669
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