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There are 27296 results for: content related to: Trichothiodystrophy Without Retardation: One Patient Exhibiting Transient Combined Immunodeficiency Syndrome

  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. Trichothiodystrophy and Associated Anomalies: A Variant of SIBIDS or New Symptom Complex?

    Pediatric Dermatology

    Volume 10, Issue 2, June 1993, Pages: 117–122, Joseph H. Hersh, Laura R. Klein, Margie R. Joyce, Maria K. Hordinsky, Michael Y. Tsai, Amy Pafler, Resa Hyzer and Robert H. Zax

    Article first published online : 20 MAR 2008, DOI: 10.1111/j.1525-1470.1993.tb00034.x

  4. 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

  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

    Article first published 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. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

    Article first published online : 14 SEP 2006, DOI: 10.1002/humu.20419

  15. 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

  16. Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D

    American Journal of Medical Genetics

    Volume 52, Issue 2, 15 August 1994, Pages: 227–230, Dr. Wim J. Kleijer, Frits A. Beemer and Bart W. Boom

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320520220

  17. 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

  18. 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

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

  19. Hereditary and Congenital Nail Disorders

    Baran and Dawber's Diseases of the Nails and their Management, Third Edition

    L. Juhlin, R. Baran, Pages: 370–424, 2008

    Published Online : 16 APR 2008, DOI: 10.1002/9780470694947.ch9

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    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