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Journal Abstract Search

184 related items for PubMed ID: 32557569

  • 1. Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
    Baer S, Obringer C, Julia S, Chelly J, Capri Y, Gras D, Baujat G, Felix TM, Doray B, Sanchez Del Pozo J, Ramos LM, Burglen L, Laugel V, Calmels N.
    Clin Genet; 2020 Sep; 98(3):251-260. PubMed ID: 32557569
    [Abstract] [Full Text] [Related]

  • 2. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
    Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, Cavau A, Digeon B, Doco-Fenzy M, Doray B, Feillet F, Gardeazabal J, Gener B, Julia S, Llano-Rivas I, Mazur A, Michot C, Renaldo-Robin F, Rossi M, Sabouraud P, Keren B, Depienne C, Muller J, Mandel JL, Laugel V.
    Orphanet J Rare Dis; 2016 Mar 22; 11():26. PubMed ID: 27004399
    [Abstract] [Full Text] [Related]

  • 3. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
    Graham JM, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG.
    Am J Hum Genet; 2001 Aug 22; 69(2):291-300. PubMed ID: 11443545
    [Abstract] [Full Text] [Related]

  • 4. COFS type 3 in an Indian family with antenatally detected arthrogryposis.
    Panigrahi I, Shankar Prasad BA, Kaur H, Kalra J.
    Am J Med Genet A; 2021 Feb 22; 185(2):631-635. PubMed ID: 33219753
    [Abstract] [Full Text] [Related]

  • 5. Heterogeneity and overlaps in nucleotide excision repair disorders.
    Ferri D, Orioli D, Botta E.
    Clin Genet; 2020 Jan 22; 97(1):12-24. PubMed ID: 30919937
    [Abstract] [Full Text] [Related]

  • 6. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
    Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.
    Hum Mutat; 2008 Oct 22; 29(10):1194-208. PubMed ID: 18470933
    [Abstract] [Full Text] [Related]

  • 7. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
    Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T.
    Am J Hum Genet; 2013 May 02; 92(5):807-19. PubMed ID: 23623389
    [Abstract] [Full Text] [Related]

  • 8. [The metabolic and molecular bases of Cockayne syndrome].
    Flores-Alvarado LJ, Ramirez-Garcia SA, Núñez-Reveles NY.
    Rev Invest Clin; 2010 May 02; 62(5):480-90. PubMed ID: 21416736
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  • 10. Xeroderma pigmentosum and molecular cloning of DNA repair genes.
    Boulikas T.
    Anticancer Res; 1996 May 02; 16(2):693-708. PubMed ID: 8687116
    [Abstract] [Full Text] [Related]

  • 11. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
    Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH.
    Hum Mutat; 2006 Nov 02; 27(11):1092-103. PubMed ID: 16947863
    [Abstract] [Full Text] [Related]

  • 12. Growth charts in Cockayne syndrome type 1 and type 2.
    Baer S, Tuzin N, Kang PB, Mohammed S, Kubota M, van Ierland Y, Busa T, Rossi M, Morel G, Michot C, Baujat G, Durand M, Obringer C, Le May N, Calmels N, Laugel V.
    Eur J Med Genet; 2021 Jan 02; 64(1):104105. PubMed ID: 33227433
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  • 15. TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
    Singh A, Compe E, Le May N, Egly JM.
    Am J Hum Genet; 2015 Feb 05; 96(2):194-207. PubMed ID: 25620205
    [Abstract] [Full Text] [Related]

  • 16. Laryngeal cancer risk and common single nucleotide polymorphisms in nucleotide excision repair pathway genes ERCC1, ERCC2, ERCC3, ERCC4, ERCC5 and XPA.
    Lu B, Li J, Gao Q, Yu W, Yang Q, Li X.
    Gene; 2014 May 25; 542(1):64-8. PubMed ID: 24582975
    [Abstract] [Full Text] [Related]

  • 17. 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 25; 239(3):231-5. PubMed ID: 27396511
    [Abstract] [Full Text] [Related]

  • 18. Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein.
    Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC.
    Biochemistry; 1996 Feb 20; 35(7):2157-67. PubMed ID: 8652557
    [Abstract] [Full Text] [Related]

  • 19. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.
    Lehmann AR.
    Biochimie; 2003 Nov 20; 85(11):1101-11. PubMed ID: 14726016
    [Abstract] [Full Text] [Related]

  • 20. Expression of nucleotide excision repair genes and the risk for squamous cell carcinoma of the head and neck.
    Cheng L, Sturgis EM, Eicher SA, Spitz MR, Wei Q.
    Cancer; 2002 Jan 15; 94(2):393-7. PubMed ID: 11900225
    [Abstract] [Full Text] [Related]

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