American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 June 2003

Volume 119A, Issue 3

Pages 251–400

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence
  2. Research Article

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence
    1. Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B (pages 257–265)

      Meredith Wilson, David Mowat, Florence Dastot-Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton-Smith, Sharron Townshend, Cynthia Curry, Michael Gattas, Stephen Braddock, Bronwyn Kerr, Salim Aftimos, Harry Zehnwirth, Catherine Barrey and Michel Goossens

      Version of Record online: 18 MAR 2003 | DOI: 10.1002/ajmg.a.20053

  3. Research Articles

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence
    1. Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing (pages 266–272)

      Litanja Lodder, Petra G. Frets, R. Willem Trijsburg, Jan G.M. Klijn, Caroline Seynaeve, Madeleine M.A. Tilanus, Carina C.M. Bartels, E Johanna Meijers-Heijboer, Leon C. Verhoog and Martinus F. Niermeijer

      Version of Record online: 11 DEC 2002 | DOI: 10.1002/ajmg.a.10168

    2. Prevalence of myotonic dystrophy in Israeli Jewish communities: Inter-community variation and founder premutations (pages 273–278)

      Reeval Segel, Shira Silverstein, Israela Lerer, Esther Kahana, Rachel Meir, Michal Sagi, Nelly Zilber, Amos D. Korczyn, Yehuda Shapira, Zohar Argov and Dvorah Abeliovich

      Version of Record online: 11 APR 2003 | DOI: 10.1002/ajmg.a.20177

    3. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease (pages 279–282)

      L. Djoussé, B. Knowlton, M. Hayden, E.W. Almqvist, R. Brinkman, C. Ross, R. Margolis, A. Rosenblatt, A. Durr, C. Dode, P.J. Morrison, A. Novelletto, M. Frontali, R.J.A. Trent, E. McCusker, E. Gómez-Tortosa, D. Mayo, R. Jones, A. Zanko, M. Nance, R. Abramson, O. Suchowersky, J. Paulsen, M. Harrison, Q. Yang, L.A. Cupples, J.F. Gusella, M.E. MacDonald and R.H. Myers

      Version of Record online: 23 APR 2003 | DOI: 10.1002/ajmg.a.20190

    4. Deletion of the SHOX gene in patients with short stature of unknown cause (pages 293–296)

      E. Morizio, L. Stuppia, V. Gatta, D. Fantasia, P. Guanciali Franchi, MM Rinaldi, G. Scarano, D. Concolino, A. Giannotti, A. Verrotti, F. Chiarelli, G. Calabrese and G. Palka

      Version of Record online: 14 APR 2003 | DOI: 10.1002/ajmg.a.20198

    5. Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB (pages 324–339)

      Mohammed Tredano, Matthias Griese, Jacques de Blic, Tifenn Lorant, Claude Houdayer, Silja Schumacher, François Cartault, Frédérique Capron, Liliane Boccon-Gibod, Thierry Lacaze-Masmonteil, Sylvain Renolleau, Bertrand Delaisi, Jacques Elion, Rémy Couderc and Michel Bahuau

      Version of Record online: 11 MAR 2003 | DOI: 10.1002/ajmg.a.20058

  4. Articles

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence
    1. Understanding why negative genetic test results sometimes fail to reassure (pages 340–347)

      Susan Michie, Jonathan A. Smith, Victoria Senior and Theresa M. Marteau

      Version of Record online: 8 APR 2003 | DOI: 10.1002/ajmg.a.20200

  5. Research Articles

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence
    1. Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk Brazilian patients (pages 348–351)

      Cristina D. Castilhos, Alexandre S. Mello, Maira G. Burin, Régis R. Guidobono, Silvane Gotardo, Roberto Giugliani and Janice C. Coelho

      Version of Record online: 14 APR 2003 | DOI: 10.1002/ajmg.a.20203

  6. Clinical Report

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence
    1. A new autosomal recessive syndrome with Zellweger-like manifestations (pages 352–355)

      Joe K. Ahn, Dorit Lev, Esther Leshinsky-Silver, Mira Ginzberg and Tally Lerman-Sagie

      Version of Record online: 21 MAR 2003 | DOI: 10.1002/ajmg.a.20124

  7. Clinical Reports

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence
    1. New variant of acro-renal field defect (pages 360–362)

      Oded Scheuerman, Gadi Horev and Paul Merlob

      Version of Record online: 8 APR 2003 | DOI: 10.1002/ajmg.a.20193

    2. Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene (pages 367–374)

      Suzanna G.M. Frints, Lin Jun, Jean-Pierre Fryns, Koen Devriendt, Rudi Teulingkx, Lut Van den Berghe, Bernice De Vos, Martine Borghgraef, Jamel Chelly, Vincent Des Portes, Hans Van Bokhoven, Ben Hamel, Hans-Hilger Ropers, Vera Kalscheuer, Martine Raynaud, Claude Moraine, Peter Marynen and Guy Froyen

      Version of Record online: 28 APR 2003 | DOI: 10.1002/ajmg.a.20195

    3. Alport syndrome with diffuse leiomyomatosis (pages 381–385)

      Martina C. Anker, Joachim Arnemann, Katrin Neumann, Peter Ahrens, Helga Schmidt and Rainer König

      Version of Record online: 23 JAN 2003 | DOI: 10.1002/ajmg.a.20019

  8. Clinical Report

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence
    1. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) (pages 386–390)

      Athanasios I. Tsirikos, Dan E. Mason, Charles I. Scott Jr and Wei-Ning Chang

      Version of Record online: 25 FEB 2003 | DOI: 10.1002/ajmg.a.20061

  9. Research Letters

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence
    1. Mandibuloacral dysplasia with absent breast development (pages 391–392)

      Özgür Cogulu, Cumhur Gunduz, Remide Arkun, Sukran Darcan, Bengü Kadioglu, Ferda Ozkinay and Cihangir Ozkinay

      Version of Record online: 6 MAY 2003 | DOI: 10.1002/ajmg.a.10169

    2. Otocephaly and holoprosencephaly in only one monozygotic twin (pages 395–396)

      Petra Reinecke, Christian Figge, Frank Majewski and Franz Borchard

      Version of Record online: 2 APR 2003 | DOI: 10.1002/ajmg.a.20073

  10. Genetic Drift

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence
    1. You have free access to this content
      A few moments (pages 397–399)

      Nathaniel H. Robin

      Version of Record online: 15 JAN 2003 | DOI: 10.1002/ajmg.a.10213

  11. Correspondence

    1. Top of page
    2. Review Articles
    3. Research Article
    4. Research Articles
    5. Articles
    6. Research Articles
    7. Clinical Report
    8. Clinical Reports
    9. Clinical Report
    10. Research Letters
    11. Genetic Drift
    12. Correspondence

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