American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 May 2002

Volume 109, Issue 3

Pages 167–247

Currently known as: American Journal of Medical Genetics Part A

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Articles
    5. Clinical Report
    6. Research Letter
    7. Editor's Note
    8. Genetic Drift
    9. Correspondence
    1. You have free access to this content
      Performance of cochlear implant recipients with GJB2-related deafness (pages 167–170)

      Glenn E. Green, Daryl A. Scott, Joshua M. McDonald, Holly F.B. Teagle, Bruce J. Tomblin, Linda J. Spencer, George G. Woodworth, John F. Knutson, Bruce J. Gantz, Val C. Sheffield and Richard J.H. Smith

      Version of Record online: 16 APR 2002 | DOI: 10.1002/ajmg.10330

    2. Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the mediterranean area (pages 183–190)

      S. Lucchiari, I. Fogh, A. Prelle, R. Parini, N. Bresolin, D. Melis, L. Fiori, G. Scarlato and G. P. Comi

      Version of Record online: 16 APR 2002 | DOI: 10.1002/ajmg.10347

    3. Segregation analysis of Parkinson disease revealing evidence for a major causative gene (pages 191–197)

      N.E. Maher, L.J. Currie, A.M. Lazzarini, J.B. Wilk, C.A. Taylor, M.H. Saint-Hilaire, R.G. Feldman, L.I. Golbe, G.F. Wooten and R.H. Myers

      Version of Record online: 20 MAR 2002 | DOI: 10.1002/ajmg.10335

  2. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Articles
    5. Clinical Report
    6. Research Letter
    7. Editor's Note
    8. Genetic Drift
    9. Correspondence
  3. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Articles
    5. Clinical Report
    6. Research Letter
    7. Editor's Note
    8. Genetic Drift
    9. Correspondence
  4. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Articles
    5. Clinical Report
    6. Research Letter
    7. Editor's Note
    8. Genetic Drift
    9. Correspondence
    1. Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts (pages 206–210)

      Beyhan Tüysüz, Cenap Zeybek, Gazi Zorer, Özlem Sipahi and Savas Üngür

      Version of Record online: 16 APR 2002 | DOI: 10.1002/ajmg.10283

    2. Further clinical and sensorial delineation of Schinzel-Giedion syndrome: Report of two cases (pages 211–217)

      David Minn, Dominique Christmann, Anne De Saint-Martin, Yves Alembik, Mylène Eliot, Geneviève Mack, Michel Fischbach, Jacques Flament, Francis Veillon and Hélène Dollfus

      Version of Record online: 20 MAR 2002 | DOI: 10.1002/ajmg.10348

    3. Saethre-Chotzen syndrome: Notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation (pages 218–225)

      Hélène Dollfus, Partha Biswas, Govindsamy Kumaramanickavel, Corinne Stoetzel, Renaud Quillet, Jyotirmay Biswas, Elisabeth Lajeunie, Dominique Renier and Fabienne Perrin-Schmitt

      Version of Record online: 22 MAR 2002 | DOI: 10.1002/ajmg.10349

  5. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Articles
    5. Clinical Report
    6. Research Letter
    7. Editor's Note
    8. Genetic Drift
    9. Correspondence
    1. Two further patients with a precocious type of osteodysplasia (pages 231–233)

      Beate Albrecht, Gabriele Gillessen-Kaesbach, Elisabeth Fastnacht and Leonard O. Langer

      Version of Record online: 16 APR 2002 | DOI: 10.1002/ajmg.10329

    2. Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome (pages 234–237)

      Zoltán Maróti, Kerstin Kutsche, Marketa Sutajova, Andreas Gal, Hans Gerd Nothwang, Andrew E. Czeizel, László Tímár and Enikö Sólyom

      Version of Record online: 16 APR 2002 | DOI: 10.1002/ajmg.10314

  6. Editor's Note

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Articles
    5. Clinical Report
    6. Research Letter
    7. Editor's Note
    8. Genetic Drift
    9. Correspondence
    1. Editor's note (page 241)

      John C. Carey

      Version of Record online: 20 MAR 2002 | DOI: 10.1002/ajmg.10327

  7. Genetic Drift

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Articles
    5. Clinical Report
    6. Research Letter
    7. Editor's Note
    8. Genetic Drift
    9. Correspondence
    1. You have free access to this content
      Your father and I (page 242)

      Penny Kadmon

      Version of Record online: 20 MAR 2002 | DOI: 10.1002/ajmg.10326

  8. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Articles
    5. Clinical Report
    6. Research Letter
    7. Editor's Note
    8. Genetic Drift
    9. Correspondence
    1. Comment on SMN2 deletion in childhood-onset spinal muscular atrophy (pages 243–244)

      Shuji Ogino, Vivianna M.D. Van Deerlin and Robert B. Wilson

      Version of Record online: 21 FEB 2002 | DOI: 10.1002/ajmg.10277

    2. Reply to correspondence from Ogino et al.—“comment on SMN2 deletion in childhood-onset spinal muscular atrophy” (page 245)

      Sandhya Srivastava, Monisha Mukherjee, Inusha Panigrahi, Gouri Shankar Pandey, Balraj Mittal and Sunil Pradhan

      Version of Record online: 22 MAR 2002 | DOI: 10.1002/ajmg.10279

    3. SMN2 deletion in childhood-onset spinal muscular atrophy (page 246)

      J.M. Cobben and M. de Visser

      Version of Record online: 14 MAR 2002 | DOI: 10.1002/ajmg.10354

    4. Reply to correspondence from Cobben and de Visser– “SMN2-deletion in childhood-onset spinal muscular atrophy” (page 247)

      Sandhya Srivastava, Monisha Mukherjee, Inusha Panigrahi, Gouri Shankar Pandey, Balraj Mittal and Sunil Pradhan

      Version of Record online: 22 MAR 2002 | DOI: 10.1002/ajmg.10355

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