American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 January 2003

Volume 116A, Issue 2

Pages 111–213

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
    1. Donepezil for the treatment of language deficits in adults with Down syndrome: A preliminary 24-week open trial (pages 111–116)

      James H. Heller, Gail A. Spiridigliozzi, Jennifer A. Sullivan, P. Murali Doraiswamy, Ranga R. Krishnan and Priya S. Kishnani

      Article first published online: 19 DEC 2002 | DOI: 10.1002/ajmg.a.10074

    2. Genetic testing for hereditary colorectal cancer in children: Long-term psychological effects (pages 117–128)

      Ann-Marie Codori, Kristin L. Zawacki, Gloria M. Petersen, Diana L. Miglioretti, Judith A. Bacon, Jill D. Trimbath, Susan V. Booker, Kimberly Picarello and Francis M. Giardiello

      Article first published online: 12 SEP 2002 | DOI: 10.1002/ajmg.a.10926

    3. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects (pages 129–135)

      Murat Derbent, Zerrin Yılmaz, Volkan Baltacı, Arda Saygılı, Birgül Varan and Kürşat Tokel

      Article first published online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10832

    4. Trisomy 8 mosaicism: Selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells (pages 144–146)

      Bonnie J. Hulley, Marybeth Hummel, Linda L. Cook, Brita K. Boyd and Sharon L. Wenger

      Article first published online: 5 SEP 2002 | DOI: 10.1002/ajmg.a.10651

    5. Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation (pages 147–151)

      M.W. Wessels, F.J. Los, I.M.E. Frohn-Mulder, M.F. Niermeijer, P.J. Willems and J.W. Wladimiroff

      Article first published online: 5 SEP 2002 | DOI: 10.1002/ajmg.a.10823

    6. Lack of association between Y chromosome haplogroups and male infertility in Japanese men (pages 152–158)

      Cláudia M.B. Carvalho, Masato Fujisawa, Toshiro Shirakawa, Akinobu Gotoh, Sadao Kamidono, Tatiana Freitas Paulo, Sidney E.B. Santos, Juliane Rocha, Sérgio D.J. Pena and Fabrício R. Santos

      Article first published online: 5 SEP 2002 | DOI: 10.1002/ajmg.a.10827

    7. Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a robertsonian translocation and isochromosome (pages 159–163)

      Ruma Bandyopadhyay, Christopher McCaskill, Cami Knox-Du Bois, Yaolin Zhou, Sue Ann Berend, Emilia Bijlsma and Lisa G. Shaffer

      Article first published online: 19 DEC 2002 | DOI: 10.1002/ajmg.a.10113

  2. New Syndrome?

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
  3. Clinical Reports

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
    1. Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype (pages 176–178)

      Heather J. Stalker, Kory L. Keller, Brian A. Gray and Roberto T. Zori

      Article first published online: 19 DEC 2002 | DOI: 10.1002/ajmg.a.10001

  4. Research Articles

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
    1. Documentation of anomalies not previously described in Fryns syndrome (pages 179–182)

      Sonya Rae Arnold, Diane Debich-Spicer D, John M. Opitz and Enid Gilbert-Barness

      Article first published online: 7 OCT 2002 | DOI: 10.1002/ajmg.a.10763

  5. Invited Comment

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
  6. Clinical Reports

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
  7. Clinical Report

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
  8. Clinical Reports

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
    1. 18q- syndrome and ectodermal dysplasia syndrome: Description of a child and his family (pages 192–199)

      R. Zannolli, M. Pierluigi, L. Pucci, N. Lagrasta, O. Gasparre, M.R. Matera, R.M. Di Bartolo, M.A. Mazzei, P. Sacco, C. Miracco, M.M. de Santi, P. Aitiani, S. Cavani, L. Pellegrini, M. Fimiani, C. Alessandrini, P. Galluzzi, W. Livi, S. Gonnelli, P. Terrosi-Vagnoli, M. Zappella and G. Morgese

      Article first published online: 19 DEC 2002 | DOI: 10.1002/ajmg.a.10069

  9. Research Letters

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
    1. Novel CNS syndrome and ectodermal dysplasia (pages 200–204)

      R. Zannolli, F. Macucci, R.M. Di Bartolo, L. Serracca, C. Miracco, M.M. de Santi, F. Giannini, A. Malandrini, P. Galluzzi, S. De Robertis, T. Hadjistilianou, R. Perotti, M. Fimiani, T. Doldo, R. Giorgetti, S. Cavani and M. Pierluigi

      Article first published online: 4 DEC 2002 | DOI: 10.1002/ajmg.a.10930

  10. Research Letter

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
    1. Del 22Q11.2 and hemophagocytic lymphohistiocytosis: A non-random association (pages 208–209)

      Simone Cesaro, Chiara Messina, Laura Sainati, Cesare Danesino and Maurizio Aricò

      Article first published online: 19 DEC 2002 | DOI: 10.1002/ajmg.a.10122

  11. Research Letters

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review
  12. Book Review

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Reports
    5. Research Articles
    6. Invited Comment
    7. Clinical Reports
    8. Clinical Report
    9. Clinical Reports
    10. Research Letters
    11. Research Letter
    12. Research Letters
    13. Book Review

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