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Journal Abstract Search

151 related items for PubMed ID: 33034244

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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 15; 41(4):363-367. PubMed ID: 32543263
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 182(9):2139-2144. PubMed ID: 32627942
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  • 8. 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 15; 12(6):1100-9. PubMed ID: 23869908
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  • 9. [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]

  • 10. 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
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  • 12. 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 Jul 25; 94(11-12):448-455. PubMed ID: 34706368
    [Abstract] [Full Text] [Related]

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

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 21(5):420-422. PubMed ID: 28864049
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  • 18. 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]

  • 19. 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]

  • 20. 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 01; 39(2):247-250. PubMed ID: 29161159
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