American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 April 2005

Volume 134A, Issue 1

Pages 1–115

  1. Invited Comments

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Editorial Comments
    8. Corrigenda
    9. Correspondence
    10. Errata
  2. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Editorial Comments
    8. Corrigenda
    9. Correspondence
    10. Errata
    1. Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher–Schinzel (3C) syndrome (pages 3–11)

      Cheryl DeScipio, Lori Schneider, Terri L. Young, Nora Wasserman, Dinah Yaeger, Fengmin Lu, Patricia G. Wheeler, Marc S. Williams, Lynn Bason, Lori Jukofsky, Ammini Menon, Ryan Geschwindt, Albert E. Chudley, Jorge Saraiva, Albert A. G. L. Schinzel, Agnes Guichet, William E. Dobyns, Annick Toutain, Nancy B. Spinner and Ian D. Krantz

      Version of Record online: 9 FEB 2005 | DOI: 10.1002/ajmg.a.30573

    2. An interstitial deletion of chromosome 7 at band q21: A case report and review (pages 12–23)

      Winnie Courtens, Stefan Vermeulen, Wim Wuyts, Ludwine Messiaen, Jan Wauters, Lieve Nuytinck, Nils Peeters, Katrien Storm, Frank Speleman and Markus M. Nöthen

      Version of Record online: 24 FEB 2005 | DOI: 10.1002/ajmg.a.30106

    3. Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation (pages 39–44)

      N. Philip, L. Colleaux, S. Sigaudy, T. Attié-Bitach, C. Missirian, A. Moncla, M.G. Mattei and G. Bollini

      Version of Record online: 24 FEB 2005 | DOI: 10.1002/ajmg.a.30468

    4. Sex and congenital malformations: An international perspective (pages 49–57)

      Alessandra Lisi, Lorenzo D. Botto, Monica Rittler, Eduardo Castilla, Fabrizio Bianchi, Beverley Botting, Hermien De Walle, J. David Erickson, Miriam Gatt, Catherine De Vigan, Lorentz Irgens, William Johnson, Paul Lancaster, Paul Merlob, Osvaldo M. Mutchinick, Annukka Ritvanen, Elisabeth Robert, Gioacchino Scarano, Claude Stoll and Pierpaolo Mastroiacovo

      Version of Record online: 9 FEB 2005 | DOI: 10.1002/ajmg.a.30514

    5. Characterization of the symptoms associated with dural ectasia in the Marfan patient (pages 58–65)

      Jared R.H. Foran, Reed E. Pyeritz, Harry C. Dietz and Paul D. Sponseller

      Version of Record online: 2 FEB 2005 | DOI: 10.1002/ajmg.a.30525

  3. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Editorial Comments
    8. Corrigenda
    9. Correspondence
    10. Errata
    1. Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63 (pages 74–76)

      Juan Carlos Zenteno, Valeria Berdón-Zapata, Susana Kofman-Alfaro and Osvaldo M. Mutchinick

      Version of Record online: 25 FEB 2005 | DOI: 10.1002/ajmg.a.30277

    2. Partial trisomy 2q: Report of a patient with dup (2)(q33.1q35) (pages 80–83)

      Courtney Drake Sebold, Susan Romie, Jadwiga Szymanska, Wilfredo Torres-Martinez, Virginia Thurston, Catherine Muesing and Gail H. Vance

      Version of Record online: 2 FEB 2005 | DOI: 10.1002/ajmg.a.30463

    3. Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation (pages 84–87)

      Robert Dobrovolný, Lenka Dvořáková, Jana Ledvinová, Sudheera Magage, Jan Bultas, Jean C. Lubanda, Helena Poupětová, Milan Elleder, Debora Karetová and Martin Hřebíček

      Version of Record online: 14 FEB 2005 | DOI: 10.1002/ajmg.a.30533

    4. Chromosome 18 aberrations and epilepsy: A review (pages 88–94)

      S. Grosso, L. Pucci, R.M. Di Bartolo, G. Gobbi, G. Bartalini, C. Anichini, R. Scarinci, M. Balestri, M.A. Farnetani, M. Cioni, G. Morgese and P. Balestri

      Version of Record online: 2 FEB 2005 | DOI: 10.1002/ajmg.a.30575

  4. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Editorial Comments
    8. Corrigenda
    9. Correspondence
    10. Errata
    1. Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease (pages 95–96)

      Mirella Filocamo, Serena Grossi, Marina Stroppiano, Paolo Tortori-Donati, Stefano Regis, Anna Allegri and Maja Di Rocco

      Version of Record online: 2 FEB 2005 | DOI: 10.1002/ajmg.a.30316

    2. Equal proportion of adult male and female homozygous for the 677C [RIGHTWARDS ARROW] T mutation in the methylenetetrahydrofolate reductase polymorphism (pages 97–99)

      Cheryl A.M. Anderson, Arne Lund Jorgensen, Samir Deeb, Dale McLerran, Shirley A.A. Beresford and Arno G. Motulsky

      Version of Record online: 9 FEB 2005 | DOI: 10.1002/ajmg.a.30391

    3. Myhre's syndrome in a girl with normal intelligence (pages 100–102)

      Immacolata Rulli, Giovanni Battista Ferrero, Elga Belligni, Angelo Giovanni Delmonaco, Claudio Defilippi and Margherita Silengo

      Version of Record online: 18 FEB 2005 | DOI: 10.1002/ajmg.a.30444

  5. Research Reviews

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Editorial Comments
    8. Corrigenda
    9. Correspondence
    10. Errata
  6. Editorial Comments

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Editorial Comments
    8. Corrigenda
    9. Correspondence
    10. Errata
  7. Corrigenda

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Editorial Comments
    8. Corrigenda
    9. Correspondence
    10. Errata
    1. You have free access to this content
  8. Correspondence

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Editorial Comments
    8. Corrigenda
    9. Correspondence
    10. Errata
    1. Baller–Gerold syndrome after fetal exposure to sodium valproate (page 113)

      Ricardo Santos de Oliveira, Elizabeth Lajeunie, Eric Arnaud, Andrew Greensmith and Dominique Renier

      Version of Record online: 24 FEB 2005 | DOI: 10.1002/ajmg.a.30385

  9. Errata

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Editorial Comments
    8. Corrigenda
    9. Correspondence
    10. Errata
    1. You have free access to this content
      Double trisomy (Am J Med Genet 124A: 96–98) (page 115)

      Shibo Li, Susan Hassed, John J. Mulvihill, Ambika K. Nair and Deborah J. Hopcus

      Version of Record online: 17 MAR 2005 | DOI: 10.1002/ajmg.a.30607

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