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There are 14415 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

    Article first published 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

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

  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

    Article first published 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

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

  5. 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

  6. 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

  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

    Article first published 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. 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

  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

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

  11. 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

    Article first published online : 29 JUL 2006, DOI: 10.1111/j.1365-2133.1992.tb14845.x

  12. 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

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1365-2249.1992.tb06457.x

  13. 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

  14. 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

  15. 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

  16. Morphological and biochemical characteristics of trichothiodystrophy-variant hair are maintained after grafting of scalp specimens on to nude mice

    British Journal of Dermatology

    Volume 128, Issue 4, April 1993, Pages: 384–387, D.J.J. VAN NESTE, J.M. GILLESPIE, R.C. MARSHALL, A. TAIEB and B. DE BROUWER

    Article first published online : 29 JUL 2006, DOI: 10.1111/j.1365-2133.1993.tb00195.x

  17. 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

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

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

    Clinical Genetics

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

    Article first published online : 5 FEB 2008, DOI: 10.1111/j.1399-0004.2008.00962_2.x

  19. Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria

    Pediatric Dermatology

    Volume 14, Issue 6, November 1997, Pages: 441–445, J. Malvehy, J. Ferrando, J. Soler, A. Tuneu, F. Ballesta and T. Estrach

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1525-1470.1997.tb00685.x

  20. 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