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There are 11397 results for: content related to: New clinico-genetic classification of trichothiodystrophy

  1. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

    Human Mutation

    Volume 29, Issue 10, October 2008, Pages: 1194–1208, Jennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, Kyoko Imoto, Deborah Tamura, Jared Jagdeo, Sikandar G. Khan, Carine Nadem, John J. DiGiovanna and Kenneth H. Kraemer

    Version of Record online : 9 MAY 2008, DOI: 10.1002/humu.20768

  2. Genotype–phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 438–445, Elena Botta, Tiziana Nardo, Donata Orioli, Roberta Guglielmino, Roberta Ricotti, Sergio Bondanza, Francesco Benedicenti, Giovanna Zambruno and Miria Stefanini

    Version of Record online : 9 DEC 2008, DOI: 10.1002/humu.20912

  3. The Transcription/DNA Repair Factor TFIIH

    Standard Article

    eLS

    Laura Radu, Anne Maglott-Roth and Arnaud Poterszman

    Published Online : 15 FEB 2013, DOI: 10.1002/9780470015902.a0024192

  4. Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development

    Clinical Genetics

    Volume 77, Issue 4, April 2010, Pages: 365–373, R Moslehi, C Signore, D Tamura, JL Mills, JJ DiGiovanna, MA Tucker, J Troendle, T Ueda, J Boyle, SG Khan, K-S Oh, AM Goldstein and KH Kraemer

    Version of Record online : 10 DEC 2009, DOI: 10.1111/j.1399-0004.2009.01336.x

  5. You have free access to this content
    Trichothiodystrophy group A: A first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene

    The Journal of Dermatology

    Volume 41, Issue 8, August 2014, Pages: 705–708, Shinichi Moriwaki, Hiroshi Saruwatari, Tamotsu Kanzaki, Takuro Kanekura and Shinsei Minoshima

    Version of Record online : 2 JUL 2014, DOI: 10.1111/1346-8138.12549

  6. High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies

    Prenatal Diagnosis

    Volume 31, Issue 11, November 2011, Pages: 1046–1053, Deborah Tamura, Melissa Merideth, John J. DiGiovanna, Xiaolong Zhou, Margaret A. Tucker, Alisa M. Goldstein, Brian P. Brooks, Sikandar G. Khan, Kyu-Seon Oh, Takahiro Ueda, Jennifer Boyle, Roxana Moslehi and Kenneth H. Kraemer

    Version of Record online : 29 JUL 2011, DOI: 10.1002/pd.2829

  7. Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Alan D. Irvine, Peter H. Hoeger, Albert C. Yan, Pages: 135.1–135.24, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch135

  8. Xeroderma Pigmentosum, Cockayne Syndrome, Trichothiodystrophy – Defects in DNA Repair and Carcinogenesis

    Hereditary Tumors: From Genes to Clinical Consequences

    Heike Allgayer, Helga Rehder, Simone Fulda, Pages: 421–439, 2009

    Published Online : 21 AUG 2009, DOI: 10.1002/9783527627523.ch25

  9. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype–phenotype relationships

    Human Mutation

    Volume 28, Issue 1, January 2007, Pages: 92–96, Elena Botta, Judith Offman, Tiziana Nardo, Roberta Ricotti, Giovanna Zambruno, Daniela Sansone, Paolo Balestri, Anja Raams, Wim J. Kleijer, Nicolaas G.J. Jaspers, Alain Sarasin, Alan R. Lehmann and Miria Stefanini

    Version of Record online : 14 SEP 2006, DOI: 10.1002/humu.20419

  10. A new function of TFIIH explains the neurological symptoms in trichothiodystrophy

    Clinical Genetics

    Volume 73, Issue 4, April 2008, Pages: 316–318, DE Ehrnhoefer

    Version of Record online : 5 FEB 2008, DOI: 10.1111/j.1399-0004.2008.00962_2.x

  11. DNA Repair Disorders with Cutaneous Features

    Standard Article

    Rook's Textbook of Dermatology, Ninth Edition

    Hiva Fassihi

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0079

  12. Identification of ICR170-induced XPD mutations in UV-sensitive CHO cells

    Environmental and Molecular Mutagenesis

    Volume 38, Issue 2-3, 2001, Pages: 111–117, Robert S. Tebbs, Edmund P. Salazar and Larry H. Thompson

    Version of Record online : 26 OCT 2001, DOI: 10.1002/em.1060

  13. You have free access to this content
    Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH

    The EMBO Journal

    Volume 18, Issue 5, March 1, 1999, Pages: 1357–1366, Frédéric Coin, Etienne Bergmann, Alexandre Tremeau-Bravard and Jean-Marc Egly

    Version of Record online : 1 MAR 1999, DOI: 10.1093/emboj/18.5.1357

  14. You have free access to this content
    Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia

    Clinical & Experimental Immunology

    Volume 126, Issue 3, December 2001, Pages: 511–518, L. Racioppi, C. Cancrini, M. L. Romiti, F. Angelini, S. Di Cesare, E. Bertini, S. Livadiotti, M. G. Gambarara, G. Matarese, F. Lago Paz, M. Stefanini and P. Rossi

    Version of Record online : 12 JAN 2002, DOI: 10.1046/j.1365-2249.2001.01625.x

  15. What’s new in trichothiodystrophy

    Journal of the European Academy of Dermatology and Venereology

    Volume 15, Issue 1, January 2001, Pages: 1–4, A Richetta, S Giustini, A Rossi and S Calvieri

    Version of Record online : 7 JUL 2008, DOI: 10.1046/j.1468-3083.2001.00218.x

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    A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity

    Environmental and Molecular Mutagenesis

    Volume 53, Issue 7, August 2012, Pages: 505–514, Tzipora C. Falik-Zaccai, Reut Erel-Segal, Liran Horev, Ora Bitterman-Deutsch, Sivan Koka, Sara Chaim, Zohar Keren, Limor Kalfon, Bella Gross, Zvi Segal, Shlomi Orgal, Yishay Shoval, Hanoch Slor, Graciela Spivak and Philip C. Hanawalt

    Version of Record online : 23 JUL 2012, DOI: 10.1002/em.21716

  17. A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype–phenotype relationship

    The Journal of Dermatology

    Volume 39, Issue 12, December 2012, Pages: 1016–1021, Davut Pehlivan, Kivanc Cefle, Anja Raams, Sukru Ozturk, Can Baykal, Wim J. Kleijer, Sukru Palanduz and Nicolaas G. J. Jaspers

    Version of Record online : 5 OCT 2012, DOI: 10.1111/j.1346-8138.2012.01662.x

  18. A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

    Human Mutation

    Volume 14, Issue 1, 1999, Pages: 9–22, James E. Cleaver, Larry H. Thompson, Audrey S. Richardson and J. Christopher States

    Version of Record online : 1 JUL 1999, DOI: 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6

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    TFIIH: from transcription to clinic

    FEBS Letters

    Volume 498, Issue 2-3, June 08, 2001, Pages: 124–128, Jean-Marc Egly

    Version of Record online : 12 JUN 2001, DOI: 10.1016/S0014-5793(01)02458-9

  20. You have free access to this content
    Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH

    The EMBO Journal

    Volume 16, Issue 5, March 1, 1997, Pages: 1093–1102, Jean-Christophe Marinoni, Richard Roy, Wim Vermeulen, Pierre Miniou, Yves Lutz, Geert Weeda, Thierry Seroz, Denise Molina Gomez, Jan H. J. Hoeijmakers and Jean-Marc Egly

    Version of Record online : 1 MAR 1997, DOI: 10.1093/emboj/16.5.1093