American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 December 2003

Volume 123A, Issue 2

Pages 123–209

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letter
    7. Research Letters
    8. Review Articles
    9. Book Reviews
    10. Erratum
    1. Preliminary data on changes in neural tube defect prevalence rates after folic acid fortification in South America (pages 123–128)

      Eduardo E. Castilla, Iêda M. Orioli, Jorge S. Lopez-Camelo, Maria da Graça Dutra and Julio Nazer-Herrera

      Version of Record online: 12 SEP 2003 | DOI: 10.1002/ajmg.a.20230

    2. MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype–genotype correlation (pages 129–139)

      Marie Gomot, Chantal Gendrot, Alain Verloes, Martine Raynaud, Albert David, Helger G. Yntema, Sabine Dessay, Vera Kalscheuer, Suzanne Frints, Philippe Couvert, Sylvain Briault, Sophie Blesson, Annick Toutain, Jamel Chelly, Vincent Desportes and Claude Moraine

      Version of Record online: 29 MAY 2003 | DOI: 10.1002/ajmg.a.20247

    3. A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families (pages 140–147)

      Diego F. Wyszynski, Hasan Albacha-Hejazi, Mohammed Aldirani, Moustafa Hammod, Hikmat Shkair, Ahmed Karam, Jehad Alashkar, Taura N. Holmes, Elizabeth W. Pugh, Kimberly F. Doheny, Iain McIntosh, Terri H. Beaty and Joan E. Bailey-Wilson

      Version of Record online: 16 JUN 2003 | DOI: 10.1002/ajmg.a.20283

    4. Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients (pages 148–152)

      Lucina Bobabilla-Morales, Alfredo Corona-Rivera, J. Román Corona-Rivera, C. Buenrostro, Teresa A. García-Cobián, Enrique Corona-Rivera, José María Cantú-Garza and Diana García-Cruz

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20341

    5. Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases (pages 153–163)

      Melita Irving, Helen Hanson, Peter Turnpenny, Carole Brewer, Caroline Mackie Ogilvie, Angela Davies and Jonathan Berg

      Version of Record online: 23 MAY 2003 | DOI: 10.1002/ajmg.a.20220

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letter
    7. Research Letters
    8. Review Articles
    9. Book Reviews
    10. Erratum
    1. Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q (pages 164–168)

      Nataša Marčun Varda, N. Kokalj Vokač, Z. Kanič, K. Bračič, A. Erjavec, B. Zagradišnik and A. Gregorič

      Version of Record online: 3 JUN 2003 | DOI: 10.1002/ajmg.a.20295

    2. Novel mutation in the 5′ splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome (pages 169–171)

      Bozena Marszalek, Slawomir A. Wisniewski, Piotr Wojcicki, Kazimierz Kobus and Wieslaw H. Trzeciak

      Version of Record online: 3 JUN 2003 | DOI: 10.1002/ajmg.a.20312

  3. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letter
    7. Research Letters
    8. Review Articles
    9. Book Reviews
    10. Erratum
    1. Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis (pages 172–178)

      Fernando Scaglia, Hannes Vogel, Edith P. Hawkins, Georgirene D. Vladutiu, Ling-Ling Liu and Lee-Jun C. Wong

      Version of Record online: 16 JUN 2003 | DOI: 10.1002/ajmg.a.20315

  4. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letter
    7. Research Letters
    8. Review Articles
    9. Book Reviews
    10. Erratum
    1. Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: A clarification (pages 179–182)

      Malgorzata J.M. Nowaczyk, Susan Zeesman, Donald T. Whelan, Victoria Wright and Sally A. Feather

      Version of Record online: 29 SEP 2003 | DOI: 10.1002/ajmg.a.20215

    2. Crisponi syndrome: Report of a further patient (pages 183–185)

      P. Accorsi, L. Giordano and F. Faravelli

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20292

    3. Werner mesomelic dysplasia with Hirschsprung disease (pages 186–189)

      Alice Goldenberg, Mathieu Milh, Pascal de Lagausie, Renaud Mesnage, Fatiha Benarif, Marie-Christine De Blois, Arnold Munnich, Stanislas Lyonnet and Valérie Cormier-Daire

      Version of Record online: 29 MAY 2003 | DOI: 10.1002/ajmg.a.20285

  5. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letter
    7. Research Letters
    8. Review Articles
    9. Book Reviews
    10. Erratum
    1. A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T [RIGHTWARDS ARROW] C in African- and European-Americans (pages 190–192)

      Cyrus P. Zabetian, Roberto Romero, David Robertson, Surendra Sharma, James F. Padbury, Helena Kuivaniemi, Kwang-Soo Kim, Chun-Hyung Kim, Michael D. Köhnke, Henry R. Kranzler, Joel Gelernter and Joseph F. Cubells

      Version of Record online: 18 JUN 2003 | DOI: 10.1002/ajmg.a.20300

  6. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letter
    7. Research Letters
    8. Review Articles
    9. Book Reviews
    10. Erratum
    1. Mutation screen of the gene encoding GABRB3 in Chinese patients with childhood absence epilepsy (pages 197–200)

      Jianjun Lu, Hong Pan, Yucai Chen, Yuehua Zhang, Xiaoyan Liu, Yuwu Jiang, Xinhua Bao, Xiru Wu, Yan Shen, Husheng Wu and Keming Xu

      Version of Record online: 18 AUG 2003 | DOI: 10.1002/ajmg.a.20286

    2. Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation (pages 201–203)

      D. Concolino, M.A. Iembo, R. Marotta, E. Rossi, M.T. Moricca, S. Giglio and P. Strisciuglio

      Version of Record online: 24 JUN 2003 | DOI: 10.1002/ajmg.a.20299

  7. Review Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letter
    7. Research Letters
    8. Review Articles
    9. Book Reviews
    10. Erratum
    1. Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome (pages 204–207)

      Laurence Faivre, Hélène Dollfus, Stanislas Lyonnet, Yves Alembik, André Mégarbané, John Samples, Robert J. Gorlin, Abdulrahman Alswaid, Josué Feingold, Martine Le Merrer, Arnold Munnich and Valérie Cormier-Daire

      Version of Record online: 3 JUN 2003 | DOI: 10.1002/ajmg.a.20289

  8. Book Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letter
    7. Research Letters
    8. Review Articles
    9. Book Reviews
    10. Erratum
  9. Erratum

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letter
    7. Research Letters
    8. Review Articles
    9. Book Reviews
    10. Erratum
    1. You have free access to this content
      Erratum (page 209)

      Version of Record online: 29 OCT 2003 | DOI: 10.1002/ajmg.a.20529

SEARCH

SEARCH BY CITATION