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There are 24283 results for: content related to: Trichothiodystrophy and Associated Anomalies: A Variant of SIBIDS or New Symptom Complex?

  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

    Article first published online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32902

  2. 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

    Article first published online : 29 JUL 2011, DOI: 10.1002/pd.2829

  3. 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

    Article first published online : 9 MAY 2008, DOI: 10.1002/humu.20768

  4. 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

  5. A New Variant of Trichothiodystrophy with Recurrent Infections, Failure to Thrive, and Death

    Pediatric Dermatology

    Volume 15, Issue 1, January-February 1998, Pages: 31–34, James H. Petrin, Kenneth A. Meckler and Virginia P. Sybert

    Article first published online : 16 MAR 2009, DOI: 10.1111/j.1525-1470.1998.tb01265.x

  6. Behavioural aspects of Pollitt syndrome: a 32-year follow-up of a case described by R. J. Pollitt and colleagues in 1968

    Journal of Intellectual Disability Research

    Volume 46, Issue 3, March 2002, Pages: 273–278, K. L. Murrin and D. J. Clarke

    Article first published online : 15 MAR 2002, DOI: 10.1046/j.1365-2788.2002.00369.x

  7. 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

    Article first published online : 10 DEC 2009, DOI: 10.1111/j.1399-0004.2009.01336.x

  8. 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

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

  9. Trichothiodystrophy: Update

    Pediatric Dermatology

    Volume 9, Issue 4, December 1992, Pages: 369–370, Vera H. Price

    Article first published online : 20 MAR 2008, DOI: 10.1111/j.1525-1470.1992.tb00633.x

  10. Hair shaft abnormalities: Part II

    Australasian Journal of Dermatology

    Volume 37, Issue 1, February 1996, Pages: 1–11, Maureen Rogers

    Article first published online : 28 JUN 2007, DOI: 10.1111/j.1440-0960.1996.tb00987.x

  11. 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

  12. 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

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

  13. 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

    Article first published online : 9 DEC 2008, DOI: 10.1002/humu.20912

  14. 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

    Article first published online : 2 JUL 2014, DOI: 10.1111/1346-8138.12549


    Australasian Journal of Dermatology

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

    Article first published online : 28 JUN 2007, DOI: 10.1111/j.1440-0960.1988.tb00369.x

  16. You have free access to this content
    Cuticle cell defects in lamellar ichthyosis hair and anomalous hair shaft syndromes visualized after detergent extraction

    The Anatomical Record

    Volume 246, Issue 4, December 1996, Pages: 433–441, Robert H. Rice, Viviana J. Wong, Vera H. Price, Daniel Hohl and Kent E. Pinkerton

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1097-0185(199612)246:4<433::AID-AR2>3.0.CO;2-W

  17. 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

    Article first published online : 7 JUL 2008, DOI: 10.1046/j.1468-3083.2001.00218.x

  18. 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

    Article first published online : 5 OCT 2012, DOI: 10.1111/j.1346-8138.2012.01662.x

  19. 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

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1525-1470.1997.tb00219.x

  20. You have free access to this content
    Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease

    British Journal of Dermatology

    Volume 161, Issue 6, December 2009, Pages: 1379–1383, S. Cheng, J. Stone and D. De Berker

    Article first published online : 15 SEP 2009, DOI: 10.1111/j.1365-2133.2009.09403.x