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There are 20841 results for: content related to: Mutations in the C7orf11 ( TTDN1 ) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype–phenotype relationships

  1. You have free access to this content
    New clinico-genetic classification of trichothiodystrophy

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 2020–2030, Fanny Morice-Picard, Muriel Cario-André, Hamid Rezvani, Didier Lacombe, Alain Sarasin and Alain Taïeb

    Version of Record online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32902

  2. 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

  3. 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

  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. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. You have free access to this content
    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

  11. 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

  12. 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

  13. 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

  14. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome

    Human Mutation

    Volume 27, Issue 11, November 2006, Pages: 1092–1103, Kyu-Seon Oh, Sikandar G. Khan, N.G.J. Jaspers, Anja Raams, Takahiro Ueda, Alan Lehmann, Peter S. Friedmann, Steffen Emmert, Alexi Gratchev, Katherine Lachlan, Anneke Lucassan, Carl C. Baker and Kenneth H. Kraemer

    Version of Record online : 31 AUG 2006, DOI: 10.1002/humu.20392

  15. 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

  16. Hot news: temperature-sensitive humans explain hereditary disease

    BioEssays

    Volume 23, Issue 8, August 2001, Pages: 671–673, Errol C. Friedberg

    Version of Record online : 25 JUL 2001, DOI: 10.1002/bies.1094

  17. Inherited Disorders of Cornification

    Standard Article

    Rook's Textbook of Dermatology

    Vinzenz Oji, Dieter Metze and Heiko Traupe

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0066

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    High-latitude forcing of interior ocean δ13C

    Paleoceanography

    Volume 21, Issue 2, June 2006, Randye L. Rutberg and Synte L. Peacock

    Version of Record online : 17 MAY 2006, DOI: 10.1029/2005PA001226

  19. DNA Repair Disorders with Cutaneous Features

    Standard Article

    Rook's Textbook of Dermatology

    Hiva Fassihi

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

  20. You have free access to this content
    Human anti-FcϵRIα autoantibodies isolated from healthy donors cross-react with tetanus toxoid

    European Journal of Immunology

    Volume 29, Issue 4, April 1999, Pages: 1139–1148, Michael P. Horn, Tamara Gerster, Brigitte Ochensberger, Tanja Derer, Franz Kricek, Marie-Hélène Jouvin, Jean-Pierre Kinet, Thomas Tschernig, Monique Vogel, Beda M. Stadler and Sylvia M. Miescher

    Version of Record online : 6 JUL 1999, DOI: 10.1002/(SICI)1521-4141(199904)29:04<1139::AID-IMMU1139>3.0.CO;2-J