American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 September 2002

Volume 111, Issue 4

Pages 345–461

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 Letter
    5. Correspondence
    1. HFE based re-evaluation of heterozygous hemochromatosis (pages 356–361)

      Romain Moirand, Dominique Guyader, Michel Henry Mendler, Anne Marie Jouanolle, Jean Yves Le Gall, Véronique David, Pierre Brissot and Yves Deugnier

      Article first published online: 13 JUN 2002 | DOI: 10.1002/ajmg.10547

    2. Behavioral phenotypes in four mental retardation syndromes: Fetal alcohol syndrome, Prader-Willi syndrome, fragile X syndrome, and tuberosis sclerosis (pages 381–387)

      Hans-Christoph Steinhausen, Alexander von Gontard, Hans-Ludwig Spohr, Berthold P. Hauffa, Urs Eiholzer, Margitta Backes, Judith Willms and Zeno Malin

      Article first published online: 7 AUG 2002 | DOI: 10.1002/ajmg.10627

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      Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years (pages 388–391)

      Andreas Zankl, Lukas Eberle, Luciano Molinari and Albert Schinzel

      Article first published online: 16 JUL 2002 | DOI: 10.1002/ajmg.10472

  2. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Correspondence
    1. Tetrasomy Y by structural rearrangement: Clinical report (pages 401–404)

      Martin DesGroseilliers, Emmanuelle Lemyre, Louis Dallaire and Nicole Lemieux

      Article first published online: 11 JUN 2002 | DOI: 10.1002/ajmg.10591

    2. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient (pages 405–408)

      Jean-Michel Dupont, Laurence Cuisset, Maryse Cartigny, Dominique Le Tessier, Christian Vasseur, Didier Rabineau and Marc Jeanpierre

      Article first published online: 28 JUN 2002 | DOI: 10.1002/ajmg.10570

    3. Velo-cardio-facial syndrome: Clinical report of a 70-year-old woman (pages 409–411)

      W.M.A. Verhoeven, S. Tuinier, J.J.M. Engelen, H.T.M. Hollanders-Crombach and L.M.G. Curfs

      Article first published online: 21 JUN 2002 | DOI: 10.1002/ajmg.10623

    4. Primary hypothyroidism and osteopenia associated with Neuhauser syndrome (pages 412–414)

      Anna Sarkozy, Rita Mingarelli, Francesco Brancati and Bruno Dallapiccola

      Article first published online: 7 JUN 2002 | DOI: 10.1002/ajmg.10577

    5. Early detection of severe cholestatic hepatopathy in COACH syndrome (pages 429–434)

      Dirk Foell, Christian August, Michael Frosch, Erik Harms and Klaus-Peter Zimmer

      Article first published online: 19 JUN 2002 | DOI: 10.1002/ajmg.10614

    6. Cyst-like cerebral lesions in tuberous sclerosis (pages 435–439)

      Hans-Dieter Rott, Beate Lemcke, Martin Zenker, Walter Huk, Jürgen Horst and Karin Mayer

      Article first published online: 26 JUN 2002 | DOI: 10.1002/ajmg.10637

  3. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Correspondence
    1. Estimate of prevalence of proximal 15q duplication syndrome (pages 440–442)

      John B. Moeschler, T.K. Mohandas, Arnold B. Hawk and Walter W. Noll

      Article first published online: 13 AUG 2002 | DOI: 10.1002/ajmg.10419

    2. Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23 (pages 443–445)

      Bert B.A. de Vries, Guido J. Breedveld, Wouter H. Deelen, Martijn H. Breuning, Martinus F. Niermeijer and Peter Heutink

      Article first published online: 18 JUN 2002 | DOI: 10.1002/ajmg.10576

    3. Transmission of the mitochondrial t8993c mutation in a new family (pages 446–447)

      Haggit Hurvitz, Yaron Naveh, David Shoseyov, Aharon Klar, Avraham Shaag and Orly Elpeleg

      Article first published online: 13 AUG 2002 | DOI: 10.1002/ajmg.10613

    4. Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome (pages 448–449)

      Ercan Mıhçı, Sükran Taçoy, Senay Haspolat and Kamil Karaali

      Article first published online: 8 JUL 2002 | DOI: 10.1002/ajmg.10573

    5. Does a Jewish type of Cohen syndrome truly exist? (pages 453–454)

      K.E. Chandler and Jill Clayton-Smith

      Article first published online: 26 JUN 2002 | DOI: 10.1002/ajmg.10611

    6. Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects (pages 455–456)

      Ph. Debeer, T.J.L. de Ravel, K. Devriendt, J.-P. Fryns, C. Huysmans and W.J.M. Van de Ven

      Article first published online: 19 JUN 2002 | DOI: 10.1002/ajmg.10583

  4. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Correspondence
    1. Reply to correspondence from Winter (page 458)

      Richard S. Olney and H. Eugene Hoyme

      Article first published online: 15 JUL 2002 | DOI: 10.1002/ajmg.10504

    2. Onset age of Parkinson disease (pages 459–460)

      Rivka Inzelberg, Edna Schechtman and Diana Paleacu

      Article first published online: 26 JUN 2002 | DOI: 10.1002/ajmg.10586

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