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4. 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; 382():142-145. PubMed ID: 29111009 [TBL] [Abstract][Full Text] [Related]
6. 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; 261(10):1911-6. PubMed ID: 25034270 [TBL] [Abstract][Full Text] [Related]
7. 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; 39(2):247-250. PubMed ID: 29161159 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
10. 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; 16():5. PubMed ID: 25928698 [TBL] [Abstract][Full Text] [Related]
11. Cerebroretinal microangiopathy with calcifications and cysts: A case report. Xu W; Zhao J; Zhu Y; Zhang W Medicine (Baltimore); 2017 Jan; 96(1):e5545. PubMed ID: 28072696 [TBL] [Abstract][Full Text] [Related]
12. Retinopathy and bone marrow failure revealing Coats plus syndrome. Painho T; Conceição C; Kjöllerström P; Batalha S BMJ Case Rep; 2018 Mar; 2018():. PubMed ID: 29523622 [No Abstract] [Full Text] [Related]
13. Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report. Liang T; Zhang X; Xu Y; Zhao P Ophthalmic Genet; 2021 Feb; 42(1):79-83. PubMed ID: 33034244 [TBL] [Abstract][Full Text] [Related]
14. 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; 28(12):1702-8. PubMed ID: 23220793 [TBL] [Abstract][Full Text] [Related]
15. Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: an unusual cause of complex partial seizure. Dusak A; Seferoğlu M; Hakyemez B; Bora I; Parlak M Psychiatry Clin Neurosci; 2012 Aug; 66(5):460. PubMed ID: 22834668 [No Abstract] [Full Text] [Related]
16. 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; 12(6):1100-9. PubMed ID: 23869908 [TBL] [Abstract][Full Text] [Related]
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; 182(9):2139-2144. PubMed ID: 32627942 [TBL] [Abstract][Full Text] [Related]
18. 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; 30(7):812-26. PubMed ID: 27013236 [TBL] [Abstract][Full Text] [Related]
19. 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; 41(4):363-367. PubMed ID: 32543263 [TBL] [Abstract][Full Text] [Related]
20. A case of late-onset leukoencephalopathy, calcifications, and cysts presenting with intracerebral hemorrhage resembling a neoplasm. Banks GP; Weiss SA; Pisapia D; Willey JZ Cerebrovasc Dis; 2013; 35(4):396-7. PubMed ID: 23635489 [No Abstract] [Full Text] [Related] [Next] [New Search]