American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 June 1994

Volume 51, Issue 2

Pages fmi–fmi, i–i, 93–185

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Announcement
    4. Articles
    5. Brief Clinical Report
    6. Brief Clinical Reports
    7. Articles
    8. Letters to the Editor
    9. Rapid Publications
    10. Books Received
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510201

  2. Announcement

    1. Top of page
    2. Masthead
    3. Announcement
    4. Articles
    5. Brief Clinical Report
    6. Brief Clinical Reports
    7. Articles
    8. Letters to the Editor
    9. Rapid Publications
    10. Books Received
    1. You have free access to this content
      Announcement (page i)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510202

  3. Articles

    1. Top of page
    2. Masthead
    3. Announcement
    4. Articles
    5. Brief Clinical Report
    6. Brief Clinical Reports
    7. Articles
    8. Letters to the Editor
    9. Rapid Publications
    10. Books Received
    1. Spontaneous abortion–high risk factor for neural tube defects in subsequent pregnancy (pages 93–97)

      R. Carmi, J. Gohar, I. Meizner and M. Katz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510203

    2. Acrocallosal syndrome in two African brothers born to consanguineous parents (pages 98–101)

      Dr. Arnold L. Christianson, Philip A. Venter, Joan L. Du Toit, Nancy Shipalana and George S. Gericke

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510204

    3. Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: A distinct late onset mitochondrial disorder (pages 114–120)

      Johan L. K. Van Hove, Sara Shanske, Federica Ciacci, Scott Ballinger, John S. Shoffner, Douglas C. Wallace, Takashi Hanioka, Karl Folkers, Edward H. Bossen, Peter S. Kussin, Jeffrey M. Kopita and Stephen G. Kahler

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510207

    4. Jackson-Weiss syndrome: Clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter (pages 121–130)

      Dr. L. C. Adès, J. C. Mulley, I. P. Senga, L. L. Morris, D. J. David and E. A. Haan

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510208

    5. Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome) (pages 131–136)

      Mark J. Stephan, Kenneth L. Brooks, Dan C. Moore, Edward J. Coll and Curt Goho

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510209

    6. Identification of the I507 deletion by site-directed mutagenesis (pages 137–139)

      Dr. Lorena Orozco, Kenneth Friedman, Margarita Chávez, José Luis Lezana, María Teresa Villarreal and Alessandra Carnevale

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510210

    7. Infant with multiple congenital anomalies and deletion (9)(q34.3) (pages 140–142)

      Lisa A. Schimmenti, Susan A. Berry, Mendel Tuchman and Betsy Hirsch

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510211

    8. Epidemiology of limb-body wall complex in Japan (pages 143–146)

      Kenji Kurosawa, Kiyoshi Imaizumi, Mitsuo Masuno and Yoshikazu Kuroki

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510212

    9. Distinct phenotype in maternal uniparental disomy of chromosome 14 (pages 147–149)

      Sue Healey, Fiona Powell, Miriam Battersby, Georgia Chenevix-Trench and James McGill

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510213

  4. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Announcement
    4. Articles
    5. Brief Clinical Report
    6. Brief Clinical Reports
    7. Articles
    8. Letters to the Editor
    9. Rapid Publications
    10. Books Received
    1. Deletion 5q35.3 (pages 150–152)

      Dr. Robert F. Stratton, Nancy A. Tedrowe, Janet A. Tolworthy, Robert M. Patterson, Stephen G. Ryan and Robert S. Young

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510214

  5. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Announcement
    4. Articles
    5. Brief Clinical Report
    6. Brief Clinical Reports
    7. Articles
    8. Letters to the Editor
    9. Rapid Publications
    10. Books Received
    1. Deletion (2) (q37) (pages 153–155)

      Dr. Robert F. Stratton, Janet A. Tolworthy and Robert S. Young

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510215

  6. Articles

    1. Top of page
    2. Masthead
    3. Announcement
    4. Articles
    5. Brief Clinical Report
    6. Brief Clinical Reports
    7. Articles
    8. Letters to the Editor
    9. Rapid Publications
    10. Books Received
    1. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent (pages 156–160)

      Francis Y. M. Choy, Chao Wei, Derek A. Applegarth and Barbara C. McGillivray

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510216

  7. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Announcement
    4. Articles
    5. Brief Clinical Report
    6. Brief Clinical Reports
    7. Articles
    8. Letters to the Editor
    9. Rapid Publications
    10. Books Received
    1. Allelic instability in mitosis can explain “genome imprinting” and other genetic phenomena in psoriasis (pages 163–164)

      Chang-Jiang Zheng, Glenys Thomson and Yong-Nian Peng

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510218

    2. Reduced renal excretion of uric acid in the Hirsutism–skeletal dysplasia–mental retardation syndrome (pages 165–167)

      Priv.-Doz. Dr. rer. nat Oskar Oster, Hans-Rudolf Wiedemann, I. A. Duley, H. A. Simmonds and M. B. McBride

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510219

    3. Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4 (page 168)

      Jean-Pierre Fryns, Eric Legius, Herman Van den Berghe, Philippe Moerman, Kamiel Vandenberghe and Pierre Maroteaux

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510220

  8. Rapid Publications

    1. Top of page
    2. Masthead
    3. Announcement
    4. Articles
    5. Brief Clinical Report
    6. Brief Clinical Reports
    7. Articles
    8. Letters to the Editor
    9. Rapid Publications
    10. Books Received
    1. Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q (pages 169–175)

      Y. Wang, K. Treat, R. J. Schroer, J. E. O'Brien, R. E. Stevenson and C. E. Schwartz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510221

    2. Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis (pages 176–184)

      Li Ni, Michael J. Wagner, William J. Kimberling, Marcus E. Pembrey, Kenneth M. Grundfast, Shrawan Kumar, Stephen P. Daiger, Dan E. Wells, Kristin Johnson and Richard J. H. Smith

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510222

  9. Books Received

    1. Top of page
    2. Masthead
    3. Announcement
    4. Articles
    5. Brief Clinical Report
    6. Brief Clinical Reports
    7. Articles
    8. Letters to the Editor
    9. Rapid Publications
    10. Books Received
    1. You have free access to this content
      Books received (page 185)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510223

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