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There are 18059 results for: content related to: Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D

  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. 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

  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

    Version of Record online : 9 MAY 2008, DOI: 10.1002/humu.20768

  4. 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

  5. Prenatal diagnosis of PIBIDS

    Prenatal Diagnosis

    Volume 11, Issue 11, November 1991, Pages: 859–866, J. B. Savary, F. Vasseur, D. Vinatier, S. Manouvrier, P. Thomas and M. M. Deminatti

    Version of Record online : 21 NOV 2005, DOI: 10.1002/pd.1970111107

  6. 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

  7. 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

  8. 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

  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

    Version of Record online : 9 DEC 2008, DOI: 10.1002/humu.20912

  10. 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

  11. 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

  12. Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: Confirmation of genotype-phenotype correlation

    American Journal of Medical Genetics

    Volume 110, Issue 3, 1 July 2002, Pages: 248–252, Takehiro Kobayashi, Makoto Uchiyama, Shuhei Fukuro and Kiyoji Tanaka

    Version of Record online : 10 MAY 2002, DOI: 10.1002/ajmg.10465

  13. 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

  14. Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk

    Prenatal Diagnosis

    Volume 27, Issue 12, 15 December 2007, Pages: 1133–1137, Wim J. Kleijer, Marianne L. T. van der Sterre, Victor H. Garritsen, Anja Raams and Nicolaas G. J. Jaspers

    Version of Record online : 20 SEP 2007, DOI: 10.1002/pd.1849

  15. Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings

    American Journal of Medical Genetics

    Volume 35, Issue 4, April 1990, Pages: 566–573, Serge Przedborski, Alina Ferster, Sylvie Goldman, Renée Wolter, Micheline Song, Tonne Tonnesen, Rodney J. Pollitt and Esther Vamos

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320350424

  16. PIBI(D)S: clinical and molecular characterization of a new case

    Journal of the European Academy of Dermatology and Venereology

    Volume 15, Issue 1, January 2001, Pages: 65–69, A Belloni Fortina, M Alaibac, S Piaserico and A Peserico

    Version of Record online : 7 JUL 2008, DOI: 10.1046/j.1468-3083.2001.00212.x

  17. DNA Repair Disorders with Cutaneous Features

    Standard Article

    Rook's Textbook of Dermatology, Ninth Edition

    Hiva Fassihi

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

  18. You have free access to this content
    A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity

    Environmental and Molecular Mutagenesis

    Volume 53, Issue 7, August 2012, Pages: 505–514, Tzipora C. Falik-Zaccai, Reut Erel-Segal, Liran Horev, Ora Bitterman-Deutsch, Sivan Koka, Sara Chaim, Zohar Keren, Limor Kalfon, Bella Gross, Zvi Segal, Shlomi Orgal, Yishay Shoval, Hanoch Slor, Graciela Spivak and Philip C. Hanawalt

    Version of Record online : 23 JUL 2012, DOI: 10.1002/em.21716

  19. 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

  20. Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 481–489, Daniela T. Soltys, Clarissa R. R. Rocha, Letícia K. Lerner, Tiago A. de Souza, Veridiana Munford, Fernanda Cabral, Tiziana Nardo, Miria Stefanini, Alain Sarasin, Januário B. Cabral-Neto and Carlos F. M. Menck

    Version of Record online : 17 JAN 2013, DOI: 10.1002/humu.22259