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Journal Abstract Search

169 related items for PubMed ID: 34110109

  • 1. Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.
    Acharya T, Firth HV, Dugar S, Grammatikopoulos T, Seabra L, Walters A, Crow YJ, Parker APJ.
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1708. PubMed ID: 34110109
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  • 2. 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; 182(9):2139-2144. PubMed ID: 32627942
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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. 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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  • 5. Novel biallelic missense mutations in CTC1 gene identified in a Chinese family with Coats plus syndrome.
    Lin H, Gong L, Zhan S, Wang Y, Liu A.
    J Neurol Sci; 2017 Nov 15; 382():142-145. PubMed ID: 29111009
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  • 6. A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.
    Takai H, Jenkinson E, Kabir S, Babul-Hirji R, Najm-Tehrani N, Chitayat DA, Crow YJ, de Lange T.
    Genes Dev; 2016 Apr 01; 30(7):812-26. PubMed ID: 27013236
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  • 9. 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 01; 261(10):1911-6. PubMed ID: 25034270
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  • 11. 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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  • 12. Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.
    Romaniello R, Arrigoni F, Citterio A, Tonelli A, Sforzini C, Rizzari C, Pessina M, Triulzi F, Bassi MT, Borgatti R.
    J Child Neurol; 2013 Dec 04; 28(12):1702-8. PubMed ID: 23220793
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  • 14. Cerebroretinal microangiopathy with calcifications and cysts: A case report.
    Xu W, Zhao J, Zhu Y, Zhang W.
    Medicine (Baltimore); 2017 Jan 04; 96(1):e5545. PubMed ID: 28072696
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  • 18. Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
    Riquelme J, Takada S, van Dijk T, Peña F, Boogaard MW, van Duyvenvoorde HA, Pico-Knijnenburg I, Wit JM, van der Burg M, Mericq V, Losekoot M.
    Horm Res Paediatr; 2021 Jan 04; 94(11-12):448-455. PubMed ID: 34706368
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  • 19. Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report.
    Peene G, Smets E, Legius E, Cassiman C.
    Ophthalmic Genet; 2018 Apr 04; 39(2):247-250. PubMed ID: 29161159
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