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There are 151747 results for: content related to: Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings

  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. 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

  3. 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

  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. 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

  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. TRICHOTHIODYSTROPHY – BIOCHEMICAL AND CLINICAL STUDIES

    Australasian Journal of Dermatology

    Volume 29, Issue 2, August 1988, Pages: 85–93, J. Morton Gillespie, Robert C. Marshall and Maureen Rogers

    Version of Record online : 28 JUN 2007, DOI: 10.1111/j.1440-0960.1988.tb00369.x

  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. Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair

    British Journal of Dermatology

    Volume 127, Issue 5, November 1992, Pages: 485–491, A. SARASIN, C. BLANCHET-BARDON, G. RENAULT, A. LEHMANN, C. ARLETT and Y. DUMEZ

    Version of Record online : 29 JUL 2006, DOI: 10.1111/j.1365-2133.1992.tb14845.x

  10. 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

  11. You have free access to this content
    Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy

    Clinical & Experimental Immunology

    Volume 88, Issue 3, June 1992, Pages: 376–382, E. MARIANI, A. FACCHINI, M. C. HONORATI, E. LALLI, E. BERARDESCA, P. GHETTI, S. MARINONI, F. NUZZO, G. C. B. ASTALDI RICOTTI and M. STEFANINI

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1365-2249.1992.tb06457.x

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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

  13. 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

  14. 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

  15. Critical Assessment of the Time-to-Detection Method for Accurate Estimation of Microbial Growth Parameters

    Journal of Food Safety

    Volume 35, Issue 2, May 2015, Pages: 179–192, Maria Baka, Estefanía Noriega, Ioanna Stamati, Filip Logist and Jan F.M. Van Impe

    Version of Record online : 29 DEC 2014, DOI: 10.1111/jfs.12170

  16. A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation

    Pediatric Dermatology

    Volume 14, Issue 2, March 1997, Pages: 125–128, Carmelo Schepis, Maurizio Elia, Maddalena Siragusa and Mauro Barbareschi

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1525-1470.1997.tb00219.x

  17. You have full text access to this OnlineOpen article
    Comparing the Chemical Structure and Protein Content of ChEMBL, DrugBank, Human Metabolome Database and the Therapeutic Target Database

    Molecular Informatics

    Volume 32, Issue 11-12, December 2013, Pages: 881–897, Christopher Southan, Markus Sitzmann and Sorel Muresan

    Version of Record online : 11 DEC 2013, DOI: 10.1002/minf.201300103

  18. Prolonged p53 protein accumulation in trichothiodystrophy fibroblasts dependent on unrepaired pyrimidine dimers on the transcribed strands of cellular genes

    Molecular Carcinogenesis

    Volume 20, Issue 4, December 1997, Pages: 340–347, Nicolas Dumaz, Arlette Duthu, Jean-Claude Ehrhart, Christiane Drougard, Ettore Appella, Carl W. Anderson, Pierre May, Alain Sarasin and Leela Daya-Grosjean

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2744(199712)20:4<340::AID-MC3>3.0.CO;2-N

  19. DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

    Human Mutation

    Volume 9, Issue 6, 1997, Pages: 519–525, Kyoko Takayama, David M. Danks, Edmund P. Salazar, James E. Cleaver and Christine A. Weber

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X

  20. 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