American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 June 2004

Volume 127A, Issue 3

Pages 221–330

  1. Invited Comment

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
  2. Research Articles

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
    1. Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1 (pages 224–229)

      M.A. Blazo, R.A. Lewis, M.M. Chintagumpala, M. Frazier, C. McCluggage and S.E. Plon

      Version of Record online: 5 MAY 2004 | DOI: 10.1002/ajmg.a.20650

    2. DNA studies of mono- and pseudodicentric isochromosomes 18q (pages 230–233)

      Merete Bugge, Carsten A. Brandt and Michael B. Petersen

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30026

    3. Risk of sudden death in the Williams–Beuren syndrome (pages 234–237)

      Armin Wessel, Verena Gravenhorst, Reiner Buchhorn, Angela Gosch, Carl-Joachim Partsch and Rainer Pankau

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30012

    4. Psychotic disorders in Prader–Willi syndrome (pages 238–243)

      A. Vogels, M. De Hert, M.J. Descheemaeker, V. Govers, K. Devriendt, E. Legius, P. Prinzie and J.P. Fryns

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30004

    5. Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development (pages 249–257)

      Brigitte Royer-Pokora, Manfred Beier, Markus Henzler, Rita Alam, Valérie Schumacher, Angela Weirich and Vicki Huff

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30015

    6. Discordant phenotypes in first cousins with UBE3A frameshift mutation (pages 258–262)

      G.A. Molfetta, M.V.R. Muñoz, A.C. Santos, W.A. Silva, J. Wagstaff and J.M. Pina-Neto

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.20723

    7. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis (pages 263–267)

      Delphine Feldmann, Françoise Denoyelle, Pierre Chauvin, Eréa-Noël Garabédian, Rémy Couderc, Sylvie Odent, Alain Joannard, Sébastien Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Cédric Le Maréchal, Hélène Dollfus, Marie-Madeleine Eliot, Jean-Pierre Delaunoy, Albert David, Catherine Calais, Valérie Drouin-Garraud, Marie-Françoise Obstoy, Didier Bouccara, Olivier Sterkers, Patrice Tran Ba Huy, Cyril Goizet, Françoise Duriez, Florence Fellmann, Jocelyne Hélias, Jacqueline Vigneron, Bétina Montaut, Patricia Lewin, Christine Petit and Sandrine Marlin

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.20588

    8. CDKN1C mutation in Wiedemann–Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer (pages 268–276)

      Jocelyne M. Lew, Yan Ling Fei, Kirk Aleck, Benjamin J. Blencowe, Rosanna Weksberg and Paul D. Sadowski

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30020

    9. Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome (pages 277–287)

      Alain Verloes, Pierre Bitoun, Anne Heuskin, Dina Amrom, Hilde Van de Broeck, Sarah M. Nikkel, Albert E. Chudley, Asuri N. Prasad, Cristina Rusu, Mircea Covic, Annick Toutain, Claude Moraine, Melissa A. Parisi, Michael Patton, Jean-Jacques Martin and Marie-Noelle Van Thienen

      Version of Record online: 5 MAY 2004 | DOI: 10.1002/ajmg.a.20687

  3. Clinical Report

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
    1. Pontine hypoplasia in Carey–Fineman–Ziter (CFZ) syndrome (pages 288–290)

      Akhil Maheshwari, Darlene A. Calhoun, Atilano Lacson, Lourdes Pereda, Robert M. Nelson, Monisha D. Saste, Boris Kousseff and Maria Gieron-Korthals

      Version of Record online: 11 FEB 2004 | DOI: 10.1002/ajmg.a.20688

  4. Clinical Reports

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
  5. Editorial Comments

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
  6. Research Articles

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
    1. Unusual features in a patient with neurofibromatosis type 1: Multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney (pages 298–301)

      Cagatay Oktenli, Davut Gul, M. Salih Deveci, Mutlu Saglam, Meena Upadhyaya, Peter Thompson, Claudia Consoli, Ismail H. Kocar, Robert Pilarski, Xiao-Ping Zhou and Charis Eng

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30008

  7. Clinical Reports

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
    1. FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male (pages 302–306)

      M. Codina-Pascual, M. Oliver-Bonet, J. Navarro, H. Starke, T. Liehr, C. Gutiérrez-Mateo, J.F. Sánchez-García, O. Arango, J. Egozcue and J. Benet

      Version of Record online: 12 FEB 2004 | DOI: 10.1002/ajmg.a.30027

  8. Clinical Report

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
    1. Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: A new clinical entity? (pages 307–309)

      Mohsen Ghadami, Keyvan Majidzadeh-A, Saeid Morovvati, Elia Damavandi, Gen Nishimura, Kazuki Komatsu, Akira Kinoshita, Mohammad-Taghi Najafi, Norio Niikawa and Koh-ichiro Yoshiura

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30025

    2. Marfanoid habitus with abnormal situs (pages 310–312)

      Kenjiro Kosaki, Lynne M. Bird, Jun Maeda, Masataka Higuchi, Marilyn C. Jones and Morio Matsumoto

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30022

    3. Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome (pages 313–317)

      László Sztriha, Renzo Guerrini, Brian Harding, Fiona Stewart, Nora Chelloug and Johan G. Johansen

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30014

  9. Clinical Reports

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
    1. Two sibs with fibrochondrogenesis (pages 318–320)

      Brigitte Leeners, Andreas Funk, Christina L. Cotarelo and Itta Sauer

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.20620

  10. Research Letter

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
  11. Research Letters

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence
  12. Correspondence

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Clinical Report
    5. Clinical Reports
    6. Editorial Comments
    7. Research Articles
    8. Clinical Reports
    9. Clinical Report
    10. Clinical Reports
    11. Research Letter
    12. Research Letters
    13. Correspondence

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