American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 November 2002

Volume 112, Issue 4

Pages 315–431

Currently known as: American Journal of Medical Genetics Part A

  1. Invited Comments

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

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Clinical Report
    9. Research Reviews
    10. Invited Comment
    11. Correspondence
    1. You have free access to this content
      Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria (pages 318–326)

      Richard I. Kelley, Donna Robinson, Erik G. Puffenberger, Kevin A. Strauss and D. Holmes Morton

      Article first published online: 7 JUN 2002 | DOI: 10.1002/ajmg.10529

    2. Analysis of craniofacial development in children with hypohidrotic ectodermal dysplasia (pages 327–334)

      Euphemia LaRee Johnson, Michael W. Roberts, Albert D. Guckes, L'Tanya J. Bailey, Ceib L. Phillips and J. Timothy Wright

      Article first published online: 17 JUL 2002 | DOI: 10.1002/ajmg.10654

    3. Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome (pages 335–337)

      M. L. Martínez-Frías, E. Rodríguez-Pinilla, E. Bermejo and L. Prieto

      Article first published online: 8 JUL 2002 | DOI: 10.1002/ajmg.10706

  3. Clinical Report

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Clinical Report
    9. Research Reviews
    10. Invited Comment
    11. Correspondence
    1. Kousseff syndrome caused by deletion of chromosome 22q11-13 (pages 338–342)

      Shawnia Forrester, Margaret J. Kovach, Randell E. Smith, Lisa Rimer, Melissa Wesson and Virginia E. Kimonis

      Article first published online: 8 JUL 2002 | DOI: 10.1002/ajmg.10625

  4. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Clinical Report
    9. Research Reviews
    10. Invited Comment
    11. Correspondence
    1. Male limited association of the dopamine receptor D2 gene TaqI a polymorphism and alcohol dependence (pages 343–346)

      Frédéric Limosin, Philip Gorwood, Jean-Yves Loze, Caroline Dubertret, Laurent Gouya, Jean-Charles Deybach and Jean Adès

      Article first published online: 7 AUG 2002 | DOI: 10.1002/ajmg.10712

    2. Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients with CLN2 mutations (pages 347–354)

      Robert Steinfeld, Peter Heim, Henning von Gregory, Kerstin Meyer, Kurt Ullrich, Hans H. Goebel and Alfried Kohlschütter

      Article first published online: 26 JUL 2002 | DOI: 10.1002/ajmg.10660

    3. Genetic loci for pathological myopia are not associated with juvenile myopia (pages 355–360)

      Donald O. Mutti, Elena Semina, Mary Marazita, Margaret Cooper, Jeffrey C. Murray and Karla Zadnik

      Article first published online: 17 JUL 2002 | DOI: 10.1002/ajmg.10683

    4. Clinical study and haplotype analysis in two brothers with Partington syndrome (pages 361–368)

      Suzanna G.M. Frints, Martine Borghgraef, Guy Froyen, Peter Marynen and Jean-Pierre Fryns

      Article first published online: 7 AUG 2002 | DOI: 10.1002/ajmg.10630

    5. The decision to continue: The experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly (pages 369–378)

      Krista Redlinger-Grosse, Barbara A. Bernhardt, Kate Berg, Maximilian Muenke and Barbara B. Biesecker

      Article first published online: 26 JUL 2002 | DOI: 10.1002/ajmg.10657

    6. Clinical and genetic heterogeneity of Seckel syndrome (pages 379–383)

      L. Faivre, M. Le Merrer, S. Lyonnet, H. Plauchu, N. Dagoneau, A.B. Campos-Xavier, J. Attia-Sobol, A. Verloes, A. Munnich and V. Cormier-Daire

      Article first published online: 9 JUL 2002 | DOI: 10.1002/ajmg.10677

  5. Clinical Report

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Clinical Report
    9. Research Reviews
    10. Invited Comment
    11. Correspondence
    1. Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation (pages 384–389)

      W. Michael McCormack , Jr., Joseph J. Shen, Stacey M. Curry, Sue Ann Berend, Catherine Kashork, Halit Pinar, Lorraine Potocki and Bassem A. Bejjani

      Article first published online: 17 JUL 2002 | DOI: 10.1002/ajmg.10659

    2. Two cases of the caudal duplication anomaly including a discordant monozygotic twin (pages 390–393)

      H.Y. Kroes, M. Takahashi, R.J. Zijlstra, J.A.L.L. Baert, K.A. Kooi, R.M.W. Hofstra and A.J. van Essen

      Article first published online: 6 AUG 2002 | DOI: 10.1002/ajmg.10594

    3. Trisomy 18 in a 20-year-old woman (pages 397–399)

      Michael Kelly, Bradley W. Robinson and John W. Moore

      Article first published online: 27 AUG 2002 | DOI: 10.1002/ajmg.10638

  6. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Clinical Report
    9. Research Reviews
    10. Invited Comment
    11. Correspondence
    1. TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment (pages 400–404)

      Marie Gomot, Nathalie Ronce, Sabine Dessay, Ramzi Zemni, Anne-Dominique Ayrault, Marie-Pierre Moizard, Annie Nivelon, Simone Gilgenkrantz, Julliette Dourlens, Vincent Des Portes, Jamel Chelly and Claude Moraine

      Article first published online: 7 AUG 2002 | DOI: 10.1002/ajmg.10564

  7. Clinical Report

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

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Clinical Report
    9. Research Reviews
    10. Invited Comment
    11. Correspondence
    1. Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review (pages 412–421)

      Inge D.C. Van Balkom, Mariel Alders, Judith Allanson, Carlo Bellini, Ulrich Frank, Greetje De Jong, Ingeborg Kolbe, Didier Lacombe, Stan Rockson, Peter Rowe, Frits Wijburg and Raoul C.M. Hennekam

      Article first published online: 7 OCT 2002 | DOI: 10.1002/ajmg.10707

  9. Invited Comment

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

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Clinical Report
    9. Research Reviews
    10. Invited Comment
    11. Correspondence
    1. Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome (pages 427–428)

      Suzanna G.M. Frints, Guy Froyen, Peter Marynen, Diane Willekens, Eric Legius and Jean-Pierre Fryns

      Article first published online: 22 APR 2003 | DOI: 10.1002/ajmg.10629

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