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Journal Abstract Search

175 related items for PubMed ID: 30317357

  • 1. Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case.
    Metlo A, Rehan A, Akmal M, Iqbal U, Jamali M.
    J Pak Med Assoc; 2018 Oct; 68(10):1531-1534. PubMed ID: 30317357
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  • 2. Xeroderma pigmentosum-Cockayne syndrome complex.
    Natale V, Raquer H.
    Orphanet J Rare Dis; 2017 Apr 04; 12(1):65. PubMed ID: 28376890
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  • 5. Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.
    Cleaver JE, Volpe JP, Charles WC, Thomas GH.
    Prenat Diagn; 1994 Oct 04; 14(10):921-8. PubMed ID: 7534923
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  • 6. Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
    Kondo D, Noguchi A, Tamura H, Tsuchida S, Takahashi I, Kubota H, Yano T, Oyama C, Sawaishi Y, Moriwaki S, Takahashi T.
    Tohoku J Exp Med; 2016 Jul 04; 239(3):231-5. PubMed ID: 27396511
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  • 7. Characterisation of a novel missense mutation in the ERCC5 gene leading to group G xeroderma pigmentosum/Cockayne syndrome overlap.
    Stehnach WC, Cantor A, Bongiorno M.
    BMJ Case Rep; 2023 Oct 17; 16(10):. PubMed ID: 37848274
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  • 8. Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association.
    Singh UR, Asif S, Kommu PP, D'Souza P.
    Indian J Hum Genet; 2012 Jan 17; 18(1):125-6. PubMed ID: 22754238
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  • 10. Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
    Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH.
    Ophthalmology; 2013 Jul 17; 120(7):1324-36. PubMed ID: 23601806
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  • 12. Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome.
    Itoh T.
    J Dermatol Sci; 2006 Feb 17; 41(2):87-96. PubMed ID: 16325378
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  • 13. Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells.
    Dianov GL, Houle JF, Iyer N, Bohr VA, Friedberg EC.
    Nucleic Acids Res; 1997 Sep 15; 25(18):3636-42. PubMed ID: 9278484
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  • 15. [Xeroderma pigmentosum and related syndromes].
    Berneburg M, Krutmann J.
    Hautarzt; 2003 Jan 15; 54(1):33-40. PubMed ID: 12567255
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  • 16. Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases.
    Lindenbaum Y, Dickson D, Rosenbaum P, Kraemer K, Robbins I, Rapin I.
    Eur J Paediatr Neurol; 2001 Jan 15; 5(6):225-42. PubMed ID: 11764181
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  • 19. Gamma-ray-enhanced reactivation of irradiated adenovirus in Xeroderma pigmentosum and Cockayne syndrome fibroblasts.
    Jeeves WP, Rainbow AJ.
    Radiat Res; 1983 Jun 15; 94(3):480-98. PubMed ID: 6856785
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  • 20. Comparative studies of host-cell reactivation, cellular capacity and enhanced reactivation of herpes simplex virus in normal, xeroderma pigmentosum and Cockayne syndrome fibroblasts.
    Ryan DK, Rainbow AJ.
    Mutat Res; 1986 Jul 15; 166(1):99-111. PubMed ID: 3014327
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