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Journal Abstract Search

274 related items for PubMed ID: 23869908

  • 1.
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  • 2. Molecular basis of telomere syndrome caused by CTC1 mutations.
    Chen LY, Majerská J, Lingner J.
    Genes Dev; 2013 Oct 01; 27(19):2099-108. PubMed ID: 24115768
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  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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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  • 8. 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
    [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 15; 171(5):445-9. PubMed ID: 25843205
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 28(12):1702-8. PubMed ID: 23220793
    [Abstract] [Full Text] [Related]

  • 11. Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
    Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R.
    J Exp Med; 2016 Jul 25; 213(8):1429-40. PubMed ID: 27432940
    [Abstract] [Full Text] [Related]

  • 12. 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 25; 42(1):79-83. PubMed ID: 33034244
    [Abstract] [Full Text] [Related]

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  • 14. [Infant with intracranial calcifications and retinopathy].
    Hidalgo-Sanz J, Perez-Delgado R, Garcia-Jimenez I, Lopez-Pison J, Castillo-Castejon O, Poch ML, Izquierdo-Alvarez S.
    Rev Neurol; 2019 Oct 01; 69(7):289-292. PubMed ID: 31559627
    [Abstract] [Full Text] [Related]

  • 15. 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 Oct 01; 94(11-12):448-455. PubMed ID: 34706368
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  • 17. CTC1-STN1 coordinates G- and C-strand synthesis to regulate telomere length.
    Gu P, Jia S, Takasugi T, Smith E, Nandakumar J, Hendrickson E, Chang S.
    Aging Cell; 2018 Aug 01; 17(4):e12783. PubMed ID: 29774655
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Coats Plus Syndrome.
    Collin A, Lecler A.
    JAMA Neurol; 2019 Apr 01; 76(4):501. PubMed ID: 30688973
    [No Abstract] [Full Text] [Related]

  • 20. Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
    Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA.
    J Pediatr; 2021 Mar 01; 230():55-61.e4. PubMed ID: 32971146
    [Abstract] [Full Text] [Related]

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