American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 February 2003

Volume 116A, Issue 4

Pages 315–415

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
  2. Invited Comment

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
    1. Hypomelanosis, immunity, central nervous system: No more “and”, not the end (pages 334–337)

      Philippe Bahadoran, Robert Ballotti and Jean-Paul Ortonne

      Article first published online: 26 DEC 2002 | DOI: 10.1002/ajmg.a.10066

  3. Research Articles

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
    1. Speech characteristics in the Kabuki syndrome (pages 338–341)

      Sheila Upton, Carmella S. Stadter, Pat Landis and Eric A. Wulfsberg

      Article first published online: 11 DEC 2002 | DOI: 10.1002/ajmg.a.10039

    2. Parental consanguinity and congenital heart malformations in a developing country (pages 342–347)

      Mona M. Nabulsi, Hala Tamim, Maha Sabbagh, Mounir Y. Obeid, Khaled A. Yunis and Fadi F. Bitar

      Article first published online: 5 OCT 2001 | DOI: 10.1002/ajmg.a.10020

    3. Gaucher disease associated with parkinsonism: Four further case reports (pages 348–351)

      Judit Várkonyi, Hanna Rosenbaum, Nicole Baumann, Jennifer J. MacKenzie, Zsuzsa Simon, Judith Aharon-Peretz, Jamie M. Walker, Nahid Tayebi and Ellen Sidransky

      Article first published online: 5 NOV 2002 | DOI: 10.1002/ajmg.a.10028

  4. Clinical Report

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
    1. Apparent encephalocele in twin fetus papyraceus with twin-reversal arterial perfusion (pages 352–355)

      Enid Gilbert-Barness, John M. Opitz, Gabriel Chamyan and Diane Debich-Spicer

      Article first published online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10734

    2. Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy (pages 356–359)

      Mazin B. Qumsiyeh, Syed K. Rafi, Catherine Sarri, Maria Grigoriadou, Jolanda Gyftodimou, Effie Pandelia, Hara Laskari and Michael B. Petersen

      Article first published online: 11 NOV 2002 | DOI: 10.1002/ajmg.a.10050

  5. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
    1. Clinical variability of type II sialidosis by C808T mutation (pages 368–371)

      G. Rodríguez Criado, A.V. Pshezhetsky, A. Rodríguez Becerra and I. Gómez de Terreros

      Article first published online: 8 JAN 2003 | DOI: 10.1002/ajmg.a.10710

  6. Clinical Report

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
  7. Research Letters

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
    1. Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): Confirmation of the Mowat-Wilson syndrome (pages 385–388)

      L. Garavelli, A. Donadio, C. Zanacca, G. Banchini, E. Della Giustina, G. Bertani, G. Albertini, C. Del Rossi, A. Rauch, C. Zweier, M. Zollino and G. Neri

      Article first published online: 7 OCT 2002 | DOI: 10.1002/ajmg.a.10855

  8. Research Letter

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
    1. Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 Gene (pages 389–390)

      Anna Sarkozy, Giorgia Esposito, Antonio Pizzuti, Bruno Dallapiccola, Emanuela Conti, Rita Mingarelli, Bruno Marino, Maria Cristina Digilio and Vincenzo Paoletti

      Article first published online: 8 JAN 2003 | DOI: 10.1002/ajmg.a.10036

  9. Clinical/Pathologic Conference

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
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      15-Month-old infant with failure to thrive, hepatomegaly, increased liver enzymes, hypoproteinemia, and seizures (pages 391–398)

      Lewis A. Barness, Robert F. Patterson, Enid Gilbert Barness, Frederick E. Nora, Gabriel Chamyan, Atilano Lacson and Herbert H. Pomerance

      Article first published online: 19 NOV 2002 | DOI: 10.1002/ajmg.a.10071

  10. Historical Review

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
    1. You have free access to this content
  11. Book Review

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
  12. Correspondence

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
    1. Comment on Elejalde syndrome and relationship with Griscelli syndrome (pages 408–409)

      Philippe Bahadoran, Jean-Paul Ortonne, Robert Ballotti and Geneviève de Saint-Basile

      Article first published online: 26 DEC 2002 | DOI: 10.1002/ajmg.a.10065

    2. You have free access to this content
      CFC syndrome (page 410)

      Giovanni Neri, Maria Ines Kavamura, Marcella Zollino and John M. Opitz

      Article first published online: 24 SEP 2001 | DOI: 10.1002/ajmg.a.10012

  13. Editor's Note

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
    1. You have free access to this content
  14. Correspondence

    1. Top of page
    2. Research Articles
    3. Invited Comment
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Letters
    9. Research Letter
    10. Clinical/Pathologic Conference
    11. Historical Review
    12. Book Review
    13. Correspondence
    14. Editor's Note
    15. Correspondence
    1. Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in hispanic populations (pages 414–415)

      Huiping Zhu, Wade M. Junker, Richard H. Finnell, Stephen Brown, Gary M. Shaw, Edward J. Lammer, Mark Canfield and Kate Hendricks

      Article first published online: 18 DEC 2002 | DOI: 10.1002/ajmg.a.10032

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